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HEATR5B HEAT repeat containing 5B [ Homo sapiens (human) ]

Gene ID: 54497, updated on 28-Oct-2024

Summary

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Official Symbol
HEATR5Bprovided by HGNC
Official Full Name
HEAT repeat containing 5Bprovided by HGNC
Primary source
HGNC:HGNC:29273
See related
Ensembl:ENSG00000008869 MIM:619627; AllianceGenome:HGNC:29273
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
p200; p200a
Summary
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

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See HEATR5B in Genome Data Viewer
Location:
2p22.2
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36980895..37084372, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (36988032..37091507, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37208038..37311515, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905990 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:36964254-36964949 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:36981017-36981669 Neighboring gene vitrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15577 Neighboring gene Sharpr-MPRA regulatory region 5815 Neighboring gene RNA, U6 small nuclear 577, pseudogene Neighboring gene striatin Neighboring gene MPRA-validated peak3656 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37189639-37189834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11352 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37230067-37230233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15579 Neighboring gene G-patch domain containing 11 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 2 Neighboring gene ARL14EP pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. Ghosh SG, et al. Eur J Hum Genet, 2021 Jun. PMID 33824466, Free PMC Article
  2. Adaptor protein complex-1 (AP-1) is recruited by the HEATR5 protein Laa1 and its co-factor Laa2 in yeast. Zysnarski CJ, et al. J Biol Chem, 2019 Jan 25. PMID 30523155, Free PMC Article
  3. The aftiphilin/p200/gamma-synergin complex. Hirst J, et al. Mol Biol Cell, 2005 May. PMID 15758025, Free PMC Article
  4. Proteome-wide analysis of phospho-regulated PDZ domain interactions. Sundell GN, et al. Mol Syst Biol, 2018 Aug 20. PMID 30126976, Free PMC Article
  5. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. Shiffman D, et al. Arterioscler Thromb Vasc Biol, 2008 Jan. PMID 17975119, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.
    Title: Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.
  2. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
    Title: Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1414

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 endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
HEAT repeat-containing protein 5B

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)

  1. NM_019024.3 → NP_061897.1  HEAT repeat-containing protein 5B

    See identical proteins and their annotated locations for NP_061897.1

    Status: VALIDATED

    Source sequence(s)
    AB037835, AC007404, AC007899, AK096637, AV759566, BX538008, CA432330
    Consensus CDS
    CCDS33181.1
    UniProtKB/Swiss-Prot
    B5MDU8, Q7Z3B2, Q9NVL7, Q9P2D3
    UniProtKB/TrEMBL
    B9EK47
    Related
    ENSP00000233099.5, ENST00000233099.6
    Conserved Domains (1) summary
    sd00044
    Location:852 → 882
    HEAT; HEAT repeat [structural motif]

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    36980895..37084372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444812.1 → XP_047300768.1  HEAT repeat-containing protein 5B isoform X6

  2. XM_047444810.1 → XP_047300766.1  HEAT repeat-containing protein 5B isoform X3

  3. XM_006712035.5 → XP_006712098.1  HEAT repeat-containing protein 5B isoform X2

    UniProtKB/TrEMBL
    B9EK47
    Conserved Domains (1) summary
    sd00044
    Location:840 → 870
    HEAT; HEAT repeat [structural motif]

  4. XM_047444811.1 → XP_047300767.1  HEAT repeat-containing protein 5B isoform X5

  5. XM_017004378.2 → XP_016859867.1  HEAT repeat-containing protein 5B isoform X4

    UniProtKB/TrEMBL
    B9EK47

  6. XM_006712034.3 → XP_006712097.1  HEAT repeat-containing protein 5B isoform X1

    UniProtKB/TrEMBL
    B9EK47
    Conserved Domains (1) summary
    sd00044
    Location:852 → 882
    HEAT; HEAT repeat [structural motif]

  7. XM_047444814.1 → XP_047300770.1  HEAT repeat-containing protein 5B isoform X8

  8. XM_011532935.4 → XP_011531237.1  HEAT repeat-containing protein 5B isoform X9

    Conserved Domains (1) summary
    sd00044
    Location:235 → 265
    HEAT; HEAT repeat [structural motif]

  9. XM_047444813.1 → XP_047300769.1  HEAT repeat-containing protein 5B isoform X7

  10. XM_047444815.1 → XP_047300771.1  HEAT repeat-containing protein 5B isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    36988032..37091507 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342640.1 → XP_054198615.1  HEAT repeat-containing protein 5B isoform X6

  2. XM_054342637.1 → XP_054198612.1  HEAT repeat-containing protein 5B isoform X3

  3. XM_054342636.1 → XP_054198611.1  HEAT repeat-containing protein 5B isoform X2

  4. XM_054342639.1 → XP_054198614.1  HEAT repeat-containing protein 5B isoform X5

  5. XM_054342638.1 → XP_054198613.1  HEAT repeat-containing protein 5B isoform X4

  6. XM_054342635.1 → XP_054198610.1  HEAT repeat-containing protein 5B isoform X1

  7. XM_054342642.1 → XP_054198617.1  HEAT repeat-containing protein 5B isoform X8

  8. XM_054342643.1 → XP_054198618.1  HEAT repeat-containing protein 5B isoform X9

  9. XM_054342641.1 → XP_054198616.1  HEAT repeat-containing protein 5B isoform X7

  10. XM_054342644.1 → XP_054198619.1  HEAT repeat-containing protein 5B isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2D3.2 GenPept UniProtKB/Swiss-Prot:Q9P2D3

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