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

    Gene ID: 114987, updated on 27-Nov-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
    mouse all
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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
    • 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)

    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

      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

      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

      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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