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

Gene ID: 54521, updated on 17-Jun-2019

Summary

Official Symbol
WDR44provided by HGNC
Official Full Name
WD repeat domain 44provided by HGNC
Primary source
HGNC:HGNC:30512
See related
Ensembl:ENSG00000131725
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

Genomic context

See WDR44 in Genome Data Viewer
Location:
Xq24
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (118346073..118449966)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117480036..117583924)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene tubulin beta 4B class IVb pseudogene 3 Neighboring gene ribosomal protein L12 pseudogene 43 Neighboring gene microRNA 1277 Neighboring gene dedicator of cytokinesis 11 Neighboring gene RBBP8 pseudogene 1 Neighboring gene transmembrane protein 30B pseudogene Neighboring gene interleukin 13 receptor subunit alpha 1

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13230, MGC26781, DKFZp686L20145

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..108889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184965.2NP_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/Swiss-Prot
    Q5JSH3
    Related
    ENSP00000360890.3, ENST00000371825.7
    Conserved Domains (2) summary
    sd00039
    Location:514562
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:510849
    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_001184966.1NP_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/Swiss-Prot
    Q5JSH3
    Related
    ENSP00000360887.5, ENST00000371822.9
    Conserved Domains (2) summary
    sd00039
    Location:489537
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:485768
    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_019045.5NP_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
    Q5JSH3
    Related
    ENSP00000254029.3, ENST00000254029.8
    Conserved Domains (2) summary
    cd00200
    Location:510857
    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:514562
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    118346073..118449966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029600.2XP_016885089.1  WD repeat-containing protein 44 isoform X2

    UniProtKB/TrEMBL
    B7Z947
    Conserved Domains (3) summary
    COG2319
    Location:207533
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:224272
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:220567
    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. XM_011531353.3XP_011529655.1  WD repeat-containing protein 44 isoform X1

    Related
    ENSP00000360914.3, ENST00000371848.3
    Conserved Domains (3) summary
    COG2319
    Location:472798
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:489537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:485832
    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 ...
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