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

Gene ID: 151790, updated on 23-Nov-2021

Summary

Official Symbol
WDR49provided by HGNC
Official Full Name
WD repeat domain 49provided by HGNC
Primary source
HGNC:HGNC:26587
See related
Ensembl:ENSG00000174776
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
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Genomic context

See WDR49 in Genome Data Viewer
Location:
3q26.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (167478684..167657923, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167196472..167375711, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger B-box domain containing Neighboring gene long intergenic non-protein coding RNA 1327 Neighboring gene uncharacterized LOC105374197 Neighboring gene serpin family I member 2 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 Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

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)

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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.

Genomic

  1. NG_053014.1 RefSeqGene

    Range
    5081..184320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348951.2NP_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_001348952.2NP_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
    Related
    ENSP00000507497.1, ENST00000682715.1
    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
    Related
    ENSP00000311343.3, ENST00000308378.7
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    167478684..167657923 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.
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