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    WDR49 WD repeat domain 49 [ Homo sapiens (human) ]

    Gene ID: 151790, updated on 3-Nov-2018

    Summary

    Official Symbol
    WDR49provided by HGNC
    Official Full Name
    WD repeat domain 49provided by HGNC
    Primary source
    HGNC:HGNC:26587
    See related
    Ensembl:ENSG00000174776 Vega:OTTHUMG00000158290
    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 with nine WD repeats. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
    Expression
    Biased expression in brain (RPKM 1.0), small intestine (RPKM 1.0) and 13 other tissues See more
    Orthologs

    Genomic context

    See WDR49 in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (167478684..167658003, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167196289..167371747, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1327 Neighboring gene serpin family I member 2 Neighboring gene uncharacterized LOC105374197 Neighboring gene programmed cell death 10 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 8 Neighboring gene serpin family I member 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ33620

    General protein information

    Preferred Names
    WD repeat-containing protein 49

    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_053014.1 RefSeqGene

      Range
      5001..184320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001348951.1NP_001335880.1  WD repeat-containing protein 49 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC079822, AC117425, BC035512
      Consensus CDS
      CCDS3201.1
      Conserved Domains (3) summary
      COG2319
      Location:138587
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:408443
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:482842
      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_001348952.1NP_001335881.1  WD repeat-containing protein 49 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC079822, AC117425, BC035512
      Consensus CDS
      CCDS3201.1
      Related
      ENSP00000497120.1, ENST00000647816.1
      Conserved Domains (3) summary
      COG2319
      Location:138587
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:408443
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:482842
      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_001366157.1NP_001353086.1  WD repeat-containing protein 49 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC069530, AC079822, AC117425
      Conserved Domains (2) summary
      sd00039
      Location:143186
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:482853
      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 ...
    4. NM_001366158.1NP_001353087.1  WD repeat-containing protein 49 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079822, BC035512
      Conserved Domains (2) summary
      sd00039
      Location:67102
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:141501
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      167478684..167658003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178824.3: Suppressed sequence

      Description
      NM_178824.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Support Center