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

    Gene ID: 54521, updated on 27-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
    mouse all
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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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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