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PHLDB1 pleckstrin homology like domain family B member 1 [ Homo sapiens (human) ]

Gene ID: 23187, updated on 10-Dec-2024

Summary

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Official Symbol: PHLDB1provided by HGNC
Official Full Name: pleckstrin homology like domain family B member 1provided by HGNC
Primary source: HGNC:HGNC:23697
See related: Ensembl:ENSG00000019144 MIM:612834; AllianceGenome:HGNC:23697
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LL5A; OI23; LL5alpha
Summary: Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in several cellular components, including basal cortex; cytosol; and intercellular bridge. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

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See PHLDB1 in Genome Data Viewer

Location:: 11q23.3

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118606436..118658028)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118625712..118677249)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118477151..118528738)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
Title: Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
Title: Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.
Title: Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.
The rs6010620 (RTEL1), rs4977756 (CDKN2A/B), and rs498872 (PHLDB1) are associated with glioma risk in the Portuguese population. The GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39). In addition, the genotype AA of the rs498872 (PHLDB1) was associated with poor overall survival of gliomas patients (AA vs. GA, p = 0.037).
Title: Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients.
this paper shows that PHLDB1 gene polymorphism is associated with IgA nephropathy risk in Chinese Han population
Title: 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population.
findings suggest that genetic variation of PHLDB1 may be associated with the risk of nonfunctional pituitary adenoma
Title: A PHLDB1 variant associated with the nonfunctional pituitary adenoma.
The results indicate that liprin-alpha1, LL5 and ERC1 define a novel dynamic membrane-less compartment that regulates matrix degradation by affecting invadosome motility.
Title: Identification of a membrane-less compartment regulating invadosome function and motility.
The rs498872 PHLDB1 polymorphism was significantly associated with glioma risk in Chinese Han population.
Title: Pleckstrin homology-like domain family B member 1 rs498872 polymorphism and glioma risk in Chinese Han population.
Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
Title: Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
PHLDB1 rs498872 polymorphism was associated with increased risk of glioma.
Title: The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta, type 23 MedGen: C5882757 OMIM: 620639 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Chromosome 7p11.2 (EGFR) variation influences glioma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five susceptibility loci for glioma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2065 (e-PCR)
- UniSTS:34048

D11S2921 (e-PCR)
- UniSTS:152074

RH11874 (e-PCR)
- UniSTS:36450

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D11S614 (e-PCR)
- UniSTS:148619

D11S1364 (e-PCR), detects polymorphism
- UniSTS:10149

G62130 (e-PCR)
- UniSTS:139193

D11S2274E (e-PCR)
- UniSTS:56506

Clone Names

FLJ00141, FLJ90266, KIAA0638, MGC111531, DKFZp686H039, DKFZp686O24210

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in basal cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in basal cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: pleckstrin homology-like domain family B member 1

Names: protein LL5-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001144758.3 → NP_001138230.1 pleckstrin homology-like domain family B member 1 isoform a

See identical proteins and their annotated locations for NP_001138230.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AB014538, AI917888, AK074918, AK125783, BX489377

Consensus CDS

CCDS8401.1

UniProtKB/Swiss-Prot

B0YJ63, B0YJ64, O75133, Q4KMF8, Q86UU1, Q8TEQ2

UniProtKB/TrEMBL

Q5W9G0

Related

ENSP00000469820.1, ENST00000600882.6

Conserved Domains (6) summary

cd14673
Location:1255 → 1370

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1258 → 1365

PH; PH domain

pfam00498
Location:64 → 124

FHA; FHA domain

pfam14988
Location:728 → 931

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:469 → 552

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:715 → 812

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001144759.3 → NP_001138231.1 pleckstrin homology-like domain family B member 1 isoform b

See identical proteins and their annotated locations for NP_001138231.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and lacks two alternate in-frame exons in the coding region, compared to variant 1. The resulting isoform (b) lacks two internal segments, compared to isoform a.

Source sequence(s)

AB014538, AI917888, AK074918, AK125783, BX489377

Consensus CDS

CCDS44750.1

UniProtKB/TrEMBL

Q5W9G0

Related

ENSP00000348359.5, ENST00000356063.9

Conserved Domains (7) summary

COG1579
Location:726 → 930

COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]

cd14673
Location:1208 → 1312

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1211 → 1307

PH; PH domain

pfam00498
Location:64 → 124

FHA; FHA domain

pfam10473
Location:676 → 803

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:469 → 552

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:715 → 812

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_015157.4 → NP_055972.1 pleckstrin homology-like domain family B member 1 isoform a

See identical proteins and their annotated locations for NP_055972.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AB094090, AI917888, AK125783, AP000941

Consensus CDS

CCDS8401.1

UniProtKB/Swiss-Prot

B0YJ63, B0YJ64, O75133, Q4KMF8, Q86UU1, Q8TEQ2

UniProtKB/TrEMBL

Q5W9G0

Related

ENSP00000354498.2, ENST00000361417.6

Conserved Domains (6) summary

cd14673
Location:1255 → 1370

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1258 → 1365

PH; PH domain

pfam00498
Location:64 → 124

FHA; FHA domain

pfam14988
Location:728 → 931

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:469 → 552

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:715 → 812

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

118606436..118658028

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542709.3 → XP_011541011.1 pleckstrin homology-like domain family B member 1 isoform X8

See identical proteins and their annotated locations for XP_011541011.1

Conserved Domains (7) summary

cd14673
Location:1418 → 1533

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1421 → 1528

PH; PH domain

pfam00498
Location:64 → 124

FHA; FHA domain

pfam10473
Location:676 → 819

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:469 → 552

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:739 → 940

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:715 → 816

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_047426640.1 → XP_047282596.1 pleckstrin homology-like domain family B member 1 isoform X32

UniProtKB/TrEMBL

Q5W9G0
XM_047426637.1 → XP_047282593.1 pleckstrin homology-like domain family B member 1 isoform X30

UniProtKB/TrEMBL

Q5W9G0
XM_047426638.1 → XP_047282594.1 pleckstrin homology-like domain family B member 1 isoform X31
XM_047426639.1 → XP_047282595.1 pleckstrin homology-like domain family B member 1 isoform X32

UniProtKB/TrEMBL

Q5W9G0
XM_047426641.1 → XP_047282597.1 pleckstrin homology-like domain family B member 1 isoform X33

UniProtKB/TrEMBL

Q5W9G0
XM_011542708.4 → XP_011541010.1 pleckstrin homology-like domain family B member 1 isoform X8

See identical proteins and their annotated locations for XP_011541010.1

Conserved Domains (7) summary

cd14673
Location:1418 → 1533

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1421 → 1528

PH; PH domain

pfam00498
Location:64 → 124

FHA; FHA domain

pfam10473
Location:676 → 819

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:469 → 552

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:739 → 940

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:715 → 816

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005271474.6 → XP_005271531.3 pleckstrin homology-like domain family B member 1 isoform X29
XM_011542703.3 → XP_011541005.1 pleckstrin homology-like domain family B member 1 isoform X1

Conserved Domains (6) summary

cd14673
Location:1464 → 1579

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1467 → 1574

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl23750
Location:785 → 886

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_011542704.3 → XP_011541006.1 pleckstrin homology-like domain family B member 1 isoform X3

Conserved Domains (6) summary

cd14673
Location:1464 → 1568

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1467 → 1563

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl23750
Location:785 → 886

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_011542705.3 → XP_011541007.1 pleckstrin homology-like domain family B member 1 isoform X4

Conserved Domains (6) summary

cd14673
Location:1449 → 1564

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1452 → 1559

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl23750
Location:785 → 886

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_011542706.3 → XP_011541008.1 pleckstrin homology-like domain family B member 1 isoform X5

Conserved Domains (6) summary

cd14673
Location:1449 → 1553

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1452 → 1548

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl23750
Location:785 → 886

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_011542710.3 → XP_011541012.1 pleckstrin homology-like domain family B member 1 isoform X10

Conserved Domains (4) summary

PHA03307
Location:198 → 592

PHA03307; transcriptional regulator ICP4; Provisional

COG1196
Location:754 → 986

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00060
Location:85 → 180

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd14673
Location:1407 → 1522

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
XM_017017409.2 → XP_016872898.1 pleckstrin homology-like domain family B member 1 isoform X12
XM_006718797.4 → XP_006718860.1 pleckstrin homology-like domain family B member 1 isoform X9

Conserved Domains (7) summary

cd14673
Location:1416 → 1531

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1419 → 1526

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_017017408.2 → XP_016872897.1 pleckstrin homology-like domain family B member 1 isoform X11
XM_006718798.4 → XP_006718861.1 pleckstrin homology-like domain family B member 1 isoform X14

Conserved Domains (7) summary

cd14673
Location:1359 → 1474

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1362 → 1469

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006718799.4 → XP_006718862.1 pleckstrin homology-like domain family B member 1 isoform X15

Conserved Domains (7) summary

cd14673
Location:1344 → 1459

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1347 → 1454

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006718800.4 → XP_006718863.1 pleckstrin homology-like domain family B member 1 isoform X16

Conserved Domains (7) summary

cd14673
Location:1344 → 1448

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1347 → 1443

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006718801.4 → XP_006718864.1 pleckstrin homology-like domain family B member 1 isoform X18

Conserved Domains (7) summary

cd14673
Location:1312 → 1427

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1315 → 1422

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_047426632.1 → XP_047282588.1 pleckstrin homology-like domain family B member 1 isoform X21
XM_006718802.4 → XP_006718865.1 pleckstrin homology-like domain family B member 1 isoform X22

Conserved Domains (7) summary

cd14673
Location:1297 → 1412

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1300 → 1407

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006718803.4 → XP_006718866.1 pleckstrin homology-like domain family B member 1 isoform X24

Conserved Domains (7) summary

cd14673
Location:1297 → 1401

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1300 → 1396

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 865

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl02488
Location:785 → 986

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl19107
Location:761 → 862

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_011542707.3 → XP_011541009.1 pleckstrin homology-like domain family B member 1 isoform X6

Conserved Domains (8) summary

cd14673
Location:1421 → 1536

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1424 → 1531

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 849

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cd16269
Location:819 → 832

GBP_C; coiled coil [structural motif]

cl02488
Location:758 → 943

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:760 → 847

GBP_C; Guanylate-binding protein, C-terminal domain
XM_017017410.2 → XP_016872899.1 pleckstrin homology-like domain family B member 1 isoform X13
XM_005271468.4 → XP_005271525.1 pleckstrin homology-like domain family B member 1 isoform X17

Conserved Domains (6) summary

cd14673
Location:1316 → 1431

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1319 → 1426

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam14988
Location:774 → 977

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005271469.4 → XP_005271526.1 pleckstrin homology-like domain family B member 1 isoform X19

Conserved Domains (6) summary

cd14673
Location:1316 → 1420

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1319 → 1415

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam14988
Location:774 → 977

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005271470.4 → XP_005271527.1 pleckstrin homology-like domain family B member 1 isoform X20

Conserved Domains (6) summary

cd14673
Location:1301 → 1416

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1304 → 1411

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam14988
Location:774 → 977

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005271471.4 → XP_005271528.1 pleckstrin homology-like domain family B member 1 isoform X23

Conserved Domains (6) summary

cd14673
Location:1301 → 1405

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1304 → 1400

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam14988
Location:774 → 977

DUF4515; Domain of unknown function (DUF4515)

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005271472.4 → XP_005271529.1 pleckstrin homology-like domain family B member 1 isoform X26

Conserved Domains (7) summary

COG1579
Location:772 → 976

COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]

cd14673
Location:1269 → 1384

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1272 → 1379

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 849

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_047426634.1 → XP_047282590.1 pleckstrin homology-like domain family B member 1 isoform X44
XM_005271473.4 → XP_005271530.1 pleckstrin homology-like domain family B member 1 isoform X28

Conserved Domains (7) summary

COG1579
Location:772 → 976

COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]

cd14673
Location:1254 → 1369

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1257 → 1364

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:722 → 849

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:515 → 598

DUF4584; Domain of unknown function (DUF4584)

cl19107
Location:761 → 858

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005277680.4 → XP_005277737.1 pleckstrin homology-like domain family B member 1 isoform X2

Conserved Domains (6) summary

cd14673
Location:1463 → 1578

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:1466 → 1573

PH; PH domain

pfam00498
Location:110 → 170

FHA; FHA domain

pfam10473
Location:721 → 864

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam15223
Location:514 → 597

DUF4584; Domain of unknown function (DUF4584)

cl23750
Location:784 → 885

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_047426633.1 → XP_047282589.1 pleckstrin homology-like domain family B member 1 isoform X25
XM_017017407.2 → XP_016872896.1 pleckstrin homology-like domain family B member 1 isoform X7
XM_047426635.1 → XP_047282591.1 pleckstrin homology-like domain family B member 1 isoform X27
XM_047426636.1 → XP_047282592.1 pleckstrin homology-like domain family B member 1 isoform X45
XM_047426648.1 → XP_047282604.1 pleckstrin homology-like domain family B member 1 isoform X40
XM_005271475.4 → XP_005271532.1 pleckstrin homology-like domain family B member 1 isoform X41

Conserved Domains (2) summary

pfam00498
Location:110 → 170

FHA; FHA domain

pfam13863
Location:760 → 840

DUF4200; Domain of unknown function (DUF4200)
XM_017017411.2 → XP_016872900.1 pleckstrin homology-like domain family B member 1 isoform X41

Conserved Domains (2) summary

pfam00498
Location:110 → 170

FHA; FHA domain

pfam13863
Location:760 → 840

DUF4200; Domain of unknown function (DUF4200)
XM_011542714.3 → XP_011541016.1 pleckstrin homology-like domain family B member 1 isoform X42

Conserved Domains (2) summary

pfam00498
Location:110 → 170

FHA; FHA domain

pfam13863
Location:760 → 839

DUF4200; Domain of unknown function (DUF4200)
XM_047426645.1 → XP_047282601.1 pleckstrin homology-like domain family B member 1 isoform X37

UniProtKB/TrEMBL

Q5W9G0
XM_047426642.1 → XP_047282598.1 pleckstrin homology-like domain family B member 1 isoform X34

UniProtKB/TrEMBL

Q5W9G0
XM_047426647.1 → XP_047282603.1 pleckstrin homology-like domain family B member 1 isoform X39

UniProtKB/TrEMBL

Q5W9G0
XM_047426644.1 → XP_047282600.1 pleckstrin homology-like domain family B member 1 isoform X36

UniProtKB/TrEMBL

Q5W9G0

Related

ENST00000532517.5
XM_047426646.1 → XP_047282602.1 pleckstrin homology-like domain family B member 1 isoform X38

UniProtKB/TrEMBL

Q5W9G0
XM_047426643.1 → XP_047282599.1 pleckstrin homology-like domain family B member 1 isoform X35

UniProtKB/TrEMBL

Q5W9G0
XM_011542715.4 → XP_011541017.1 pleckstrin homology-like domain family B member 1 isoform X43

UniProtKB/TrEMBL

Q96D60

Related

ENST00000614369.4

Conserved Domains (3) summary

cd14673
Location:610 → 714

PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

pfam00169
Location:613 → 709

PH; PH domain

cl19107
Location:117 → 214

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RNA

XR_947813.3 RNA Sequence
XR_007062463.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

118625712..118677249

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368149.1 → XP_054224124.1 pleckstrin homology-like domain family B member 1 isoform X8
XM_054368173.1 → XP_054224148.1 pleckstrin homology-like domain family B member 1 isoform X30

UniProtKB/TrEMBL

Q5W9G0
XM_054368174.1 → XP_054224149.1 pleckstrin homology-like domain family B member 1 isoform X31
XM_054368175.1 → XP_054224150.1 pleckstrin homology-like domain family B member 1 isoform X32

UniProtKB/TrEMBL

Q5W9G0
XM_054368177.1 → XP_054224152.1 pleckstrin homology-like domain family B member 1 isoform X33

UniProtKB/TrEMBL

Q5W9G0
XM_054368148.1 → XP_054224123.1 pleckstrin homology-like domain family B member 1 isoform X8
XM_054368176.1 → XP_054224151.1 pleckstrin homology-like domain family B member 1 isoform X32

UniProtKB/TrEMBL

Q5W9G0
XM_054368171.1 → XP_054224146.1 pleckstrin homology-like domain family B member 1 isoform X29
XM_054368141.1 → XP_054224116.1 pleckstrin homology-like domain family B member 1 isoform X1
XM_054368143.1 → XP_054224118.1 pleckstrin homology-like domain family B member 1 isoform X3
XM_054368144.1 → XP_054224119.1 pleckstrin homology-like domain family B member 1 isoform X4
XM_054368145.1 → XP_054224120.1 pleckstrin homology-like domain family B member 1 isoform X5
XM_054368151.1 → XP_054224126.1 pleckstrin homology-like domain family B member 1 isoform X10
XM_054368153.1 → XP_054224128.1 pleckstrin homology-like domain family B member 1 isoform X12
XM_054368150.1 → XP_054224125.1 pleckstrin homology-like domain family B member 1 isoform X9
XM_054368152.1 → XP_054224127.1 pleckstrin homology-like domain family B member 1 isoform X11
XM_054368155.1 → XP_054224130.1 pleckstrin homology-like domain family B member 1 isoform X14
XM_054368156.1 → XP_054224131.1 pleckstrin homology-like domain family B member 1 isoform X15
XM_054368157.1 → XP_054224132.1 pleckstrin homology-like domain family B member 1 isoform X16
XM_054368159.1 → XP_054224134.1 pleckstrin homology-like domain family B member 1 isoform X18
XM_054368162.1 → XP_054224137.1 pleckstrin homology-like domain family B member 1 isoform X21
XM_054368163.1 → XP_054224138.1 pleckstrin homology-like domain family B member 1 isoform X22
XM_054368165.1 → XP_054224140.1 pleckstrin homology-like domain family B member 1 isoform X24
XM_054368146.1 → XP_054224121.1 pleckstrin homology-like domain family B member 1 isoform X6
XM_054368154.1 → XP_054224129.1 pleckstrin homology-like domain family B member 1 isoform X13
XM_054368158.1 → XP_054224133.1 pleckstrin homology-like domain family B member 1 isoform X17
XM_054368160.1 → XP_054224135.1 pleckstrin homology-like domain family B member 1 isoform X19
XM_054368161.1 → XP_054224136.1 pleckstrin homology-like domain family B member 1 isoform X20
XM_054368164.1 → XP_054224139.1 pleckstrin homology-like domain family B member 1 isoform X23
XM_054368167.1 → XP_054224142.1 pleckstrin homology-like domain family B member 1 isoform X26
XM_054368170.1 → XP_054224145.1 pleckstrin homology-like domain family B member 1 isoform X28
XM_054368142.1 → XP_054224117.1 pleckstrin homology-like domain family B member 1 isoform X2
XM_054368166.1 → XP_054224141.1 pleckstrin homology-like domain family B member 1 isoform X25
XM_054368147.1 → XP_054224122.1 pleckstrin homology-like domain family B member 1 isoform X7
XM_054368169.1 → XP_054224144.1 pleckstrin homology-like domain family B member 1 isoform X27
XM_054368184.1 → XP_054224159.1 pleckstrin homology-like domain family B member 1 isoform X40
XM_054368186.1 → XP_054224161.1 pleckstrin homology-like domain family B member 1 isoform X41
XM_054368185.1 → XP_054224160.1 pleckstrin homology-like domain family B member 1 isoform X41
XM_054368187.1 → XP_054224162.1 pleckstrin homology-like domain family B member 1 isoform X42
XM_054368168.1 → XP_054224143.1 pleckstrin homology-like domain family B member 1 isoform X46
XM_054368172.1 → XP_054224147.1 pleckstrin homology-like domain family B member 1 isoform X47
XM_054368181.1 → XP_054224156.1 pleckstrin homology-like domain family B member 1 isoform X37

UniProtKB/TrEMBL

Q5W9G0
XM_054368178.1 → XP_054224153.1 pleckstrin homology-like domain family B member 1 isoform X34

UniProtKB/TrEMBL

Q5W9G0
XM_054368183.1 → XP_054224158.1 pleckstrin homology-like domain family B member 1 isoform X39

UniProtKB/TrEMBL

Q5W9G0
XM_054368180.1 → XP_054224155.1 pleckstrin homology-like domain family B member 1 isoform X36

UniProtKB/TrEMBL

Q5W9G0
XM_054368182.1 → XP_054224157.1 pleckstrin homology-like domain family B member 1 isoform X38

UniProtKB/TrEMBL

Q5W9G0
XM_054368179.1 → XP_054224154.1 pleckstrin homology-like domain family B member 1 isoform X35

UniProtKB/TrEMBL

Q5W9G0
XM_054368188.1 → XP_054224163.1 pleckstrin homology-like domain family B member 1 isoform X43

UniProtKB/TrEMBL

Q96D60