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WDR44 WD repeat domain 44 [ Homo sapiens (human) ]

Gene ID: 54521, updated on 3-Nov-2024

Summary

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Official Symbol
WDR44provided by HGNC
Official Full Name
WD repeat domain 44provided by HGNC
Primary source
HGNC:HGNC:30512
See related
Ensembl:ENSG00000131725 MIM:301070; AllianceGenome:HGNC:30512
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RPH11; SYM-4; RAB11BP
Summary
This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Expression
Ubiquitous expression in gall bladder (RPKM 7.8), testis (RPKM 7.1) and 25 other tissues See more
Orthologs
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Genomic context

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See WDR44 in Genome Data Viewer
Location:
Xq24
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118346073..118449961)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (116723730..116827622)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117480036..117583924)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TUBB4B pseudogene 3 Neighboring gene ribosomal protein L12 pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117428183-117428684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117428685-117429184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29870 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117480201-117480744 Neighboring gene NANOG hESC enhancer GRCh37_chrX:117482240-117482834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29871 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117552835-117553370 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117552299-117552834 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:117559181-117559398 Neighboring gene microRNA 1277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:117629588-117630566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29877 Neighboring gene dedicator of cytokinesis 11 Neighboring gene Sharpr-MPRA regulatory region 12264 Neighboring gene RBBP8 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:117831262-117831491 Neighboring gene uncharacterized LOC124905207

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
  • 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. Identification of a putative effector protein for rab11 that participates in transferrin recycling. Zeng J, et al. Proc Natl Acad Sci U S A, 1999 Mar 16. PMID 10077598, Free PMC Article
  2. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Accogli A, et al. Nat Commun, 2024 Jan 8. PMID 38191484, Free PMC Article
  3. Rab11BP/Rabphilin-11, a downstream target of rab11 small G protein implicated in vesicle recycling. Mammoto A, et al. J Biol Chem, 1999 Sep 3. PMID 10464283
  4. Physical and functional interaction of rabphilin-11 with mammalian Sec13 protein. Implication in vesicle trafficking. Mammoto A, et al. J Biol Chem, 2000 May 5. PMID 10747849
  5. Akt Regulates a Rab11-Effector Switch Required for Ciliogenesis. Walia V, et al. Dev Cell, 2019 Jul 22. PMID 31204173, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
    Title: Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
  2. GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR DeltaF508.
    Title: GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR ΔF508.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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 Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13230, MGC26781, DKFZp686L20145

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular sequestering activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytosolic ciliogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
WD repeat-containing protein 44
Names
rab11-binding protein
rabphilin-11

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.

Genomic

  1. NG_021368.2 RefSeqGene

    Range
    5034..108889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184965.2 → NP_001171894.1  WD repeat-containing protein 44 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL391803, AL833605, BC028697, BX470418
    Consensus CDS
    CCDS55482.1
    UniProtKB/TrEMBL
    H7BY83
    Related
    ENSP00000360890.3, ENST00000371825.7
    Conserved Domains (2) summary
    sd00039
    Location:514 → 562
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:510 → 849
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_001184966.1 → NP_001171895.1  WD repeat-containing protein 44 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK299711, AL391803, BC028697, BX470418
    Consensus CDS
    CCDS55483.1
    UniProtKB/TrEMBL
    H7BY83
    Related
    ENSP00000360887.5, ENST00000371822.9
    Conserved Domains (2) summary
    sd00039
    Location:489 → 537
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:485 → 768
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. NM_019045.5 → NP_061918.3  WD repeat-containing protein 44 isoform 1

    See identical proteins and their annotated locations for NP_061918.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL391803, BC028697, BX470418, BX538087
    Consensus CDS
    CCDS14572.1
    UniProtKB/Swiss-Prot
    B4DSE9, F8W913, Q0JS52, Q0JTF3, Q5JSH2, Q5JSH3, Q6ZSC1, Q7Z365, Q7Z3P6, Q8NAU8, Q8NHU5, Q9NUV4
    UniProtKB/TrEMBL
    H7BY83
    Related
    ENSP00000254029.3, ENST00000254029.8
    Conserved Domains (2) summary
    cd00200
    Location:510 → 857
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:514 → 562
    7WD40; WD40 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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    118346073..118449961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531353.4 → XP_011529655.1  WD repeat-containing protein 44 isoform X1

    UniProtKB/TrEMBL
    H7BY83
    Related
    ENSP00000360914.3, ENST00000371848.3
    Conserved Domains (2) summary
    sd00039
    Location:489 → 537
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:485 → 832
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    116723730..116827622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327273.1 → XP_054183248.1  WD repeat-containing protein 44 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JSH3.1 GenPept UniProtKB/Swiss-Prot:Q5JSH3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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