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WDR31 WD repeat domain 31 [ Homo sapiens (human) ]

Gene ID: 114987, updated on 19-Sep-2024

Summary

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Official Symbol
WDR31provided by HGNC
Official Full Name
WD repeat domain 31provided by HGNC
Primary source
HGNC:HGNC:21421
See related
Ensembl:ENSG00000148225 MIM:620951; AllianceGenome:HGNC:21421
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
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 3.6), thyroid (RPKM 2.8) and 24 other tissues See more
Orthologs
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Genomic context

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See WDR31 in Genome Data Viewer
Location:
9q32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113313222..113340275, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125512036..125539119, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116075502..116102555, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106320 Neighboring gene pre-mRNA splicing tri-snRNP complex factor PRPF4 Neighboring gene ring finger protein 183 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106329 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20201 Neighboring gene B-box and SPRY domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116131698-116132198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116132199-116132699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20202 Neighboring gene haloacid dehalogenase like hydrolase domain containing 3

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. The nucleotide sequence of phenylalanine tRNA2 of Drosophila melanogaster: four isoacceptors with one basic sequence. Altwegg M, et al. Nucleic Acids Res, 1979 Sep 11. PMID 114987, Free PMC Article
  2. 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
  3. Gene variants associated with ischemic stroke: the cardiovascular health study. Luke MM, et al. Stroke, 2009 Feb. PMID 19023099, Free PMC Article
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

  • FLJ35921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
WD repeat-containing protein 31

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_001006615.3 → NP_001006616.1  WD repeat-containing protein 31 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AI091187, AK074891, AL449305, DA209351
    UniProtKB/TrEMBL
    Q8NC90
    Conserved Domains (3) summary
    COG2319
    Location:2 → 218
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:24 → 59
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:5 → 225
    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_001012361.4 → NP_001012361.1  WD repeat-containing protein 31 isoform 1

    See identical proteins and their annotated locations for NP_001012361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI091187, AK093240, AL449305, DA209351
    Consensus CDS
    CCDS35110.1
    UniProtKB/Swiss-Prot
    Q5W0T9, Q8NA23, Q96EG8
    Related
    ENSP00000363308.3, ENST00000374193.9
    Conserved Domains (3) summary
    COG2319
    Location:61 → 343
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:61 → 350
    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:65 → 101
    7WD40; WD40 repeat [structural motif]

  3. NM_145241.5 → NP_660284.1  WD repeat-containing protein 31 isoform 3

    See identical proteins and their annotated locations for NP_660284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 3 which lacks one internal amino acid, compared to isoform 1.
    Source sequence(s)
    AI091187, AL449305, BC012352, DA209351
    Consensus CDS
    CCDS6792.1
    UniProtKB/Swiss-Prot
    Q8NA23
    Related
    ENSP00000345027.3, ENST00000341761.8
    Conserved Domains (2) summary
    cd00200
    Location:60 → 349
    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:64 → 100
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_134677.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI091187, AL449305, AL833635, DA209351

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    113313222..113340275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422716.1 → XP_047278672.1  WD repeat-containing protein 31 isoform X4

  2. XM_011518194.3 → XP_011516496.1  WD repeat-containing protein 31 isoform X3

    See identical proteins and their annotated locations for XP_011516496.1

    Conserved Domains (3) summary
    COG2319
    Location:88 → 318
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:85 → 119
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:61 → 325
    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. XM_047422715.1 → XP_047278671.1  WD repeat-containing protein 31 isoform X4

  4. XM_047422713.1 → XP_047278669.1  WD repeat-containing protein 31 isoform X2

  5. XM_047422714.1 → XP_047278670.1  WD repeat-containing protein 31 isoform X3

  6. XM_047422712.1 → XP_047278668.1  WD repeat-containing protein 31 isoform X1

    UniProtKB/Swiss-Prot
    Q5W0T9, Q8NA23, Q96EG8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    125512036..125539119 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361894.1 → XP_054217869.1  WD repeat-containing protein 31 isoform X4

  2. XM_054361891.1 → XP_054217866.1  WD repeat-containing protein 31 isoform X2

  3. XM_054361893.1 → XP_054217868.1  WD repeat-containing protein 31 isoform X3

  4. XM_054361890.1 → XP_054217865.1  WD repeat-containing protein 31 isoform X1

    UniProtKB/Swiss-Prot
    Q5W0T9, Q8NA23, Q96EG8

  5. XM_054361895.1 → XP_054217870.1  WD repeat-containing protein 31 isoform X4

  6. XM_054361892.1 → XP_054217867.1  WD repeat-containing protein 31 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NA23.1 GenPept UniProtKB/Swiss-Prot:Q8NA23

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