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WDR1 WD repeat domain 1 [ Homo sapiens (human) ]

Gene ID: 9948, updated on 1-Jun-2020

Summary

Official Symbol
WDR1provided by HGNC
Official Full Name
WD repeat domain 1provided by HGNC
Primary source
HGNC:HGNC:12754
See related
Ensembl:ENSG00000071127 MIM:604734
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
AIP1; NORI-1; HEL-S-52
Summary
This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in appendix (RPKM 87.7), endometrium (RPKM 81.4) and 25 other tissues See more
Orthologs

Genomic context

See WDR1 in Genome Data Viewer
Location:
4p16.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (10074339..10116860, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (10075963..10118612, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 member 9 Neighboring gene RNA, 5S ribosomal pseudogene 154 Neighboring gene SLC2A9 antisense RNA 1 Neighboring gene microRNA 3138 Neighboring gene RNA, 5S ribosomal pseudogene 155 Neighboring gene uncharacterized LOC105374478 Neighboring gene developmental pluripotency associated 4 pseudogene

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.
NHGRI GWA Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
NHGRI GWA Catalog
Genome-wide association analysis of age at onset in schizophrenia in a European-American sample
NHGRI GWA Catalog
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
NHGRI GWA Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin filament depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament fragmentation IEA
Inferred from Electronic Annotation
more info
 
apical junction assembly IDA
Inferred from Direct Assay
more info
PubMed 
cortical cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
establishment of planar polarity of follicular epithelium IEA
Inferred from Electronic Annotation
more info
 
locomotion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maintenance of epithelial cell apical/basal polarity IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil mediated immunity IEA
Inferred from Electronic Annotation
more info
 
neutrophil migration IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
platelet formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin filament depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane repolarization IEA
Inferred from Electronic Annotation
more info
 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
actomyosin, actin portion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
WD repeat-containing protein 1
Names
actin-interacting protein 1
epididymis secretory protein Li 52

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_027876.1 RefSeqGene

    Range
    5151..47611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005112.5NP_005103.2  WD repeat-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_005103.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC000201, BC002489, BG724171
    Consensus CDS
    CCDS54739.1
    UniProtKB/Swiss-Prot
    O75083
    Related
    ENSP00000426725.1, ENST00000502702.5
    Conserved Domains (3) summary
    COG2319
    Location:45462
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:42419
    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:5389
    7WD40; WD40 repeat [structural motif]
  2. NM_017491.5NP_059830.1  WD repeat-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_059830.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB010427, AB209746, AC093664, AL110208
    Consensus CDS
    CCDS54740.1
    UniProtKB/Swiss-Prot
    O75083
    UniProtKB/TrEMBL
    V9HWG7
    Related
    ENSP00000427687.1, ENST00000499869.7
    Conserved Domains (3) summary
    cd00200
    Location:50389
    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:62100
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:312602
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    10074339..10116860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008880.2XP_016864369.1  WD repeat-containing protein 1 isoform X1

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