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

Gene ID: 151790, updated on 5-Mar-2024

Summary

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

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Location:
3q26.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (167478684..167657923, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (170262569..170441822, complement)
105.20220307 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 Neanderthal introgressed variant-containing enhancer experimental_66573 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167370944-167371467 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:167371468-167371990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20771 Neighboring gene programmed cell death 10 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20772 Neighboring gene serpin family I member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:167533895-167534094

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. WDSPdb: a database for WD40-repeat proteins. Wang Y, et al. Nucleic Acids Res, 2015 Jan. PMID 25348404, Free PMC Article
  2. Phylogenetic, structural and functional relationships between WD- and Kelch-repeat proteins. Hudson AM, et al. Subcell Biochem, 2008. PMID 18925367
  3. Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit. Garcia-Higuera I, et al. Biochemistry, 1996 Nov 5. PMID 8909296
  4. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Li D, et al. Cell Mol Life Sci, 2001 Dec. PMID 11814058
  5. Diversity of WD-repeat proteins. Smith TF. Subcell Biochem, 2008. PMID 18925368

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

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

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

  • FLJ33620

General protein information

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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
    9062..184320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348951.2 → NP_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
    CCDS3201.2
    UniProtKB/TrEMBL
    A0A3B3IS43
    Conserved Domains (3) summary
    COG2319
    Location:138 → 587
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:408 → 443
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:482 → 842
    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_001348952.2 → NP_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
    CCDS3201.2
    UniProtKB/TrEMBL
    A0A3B3IS43
    Related
    ENSP00000497120.1, ENST00000647816.2
    Conserved Domains (3) summary
    COG2319
    Location:138 → 587
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:408 → 443
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:482 → 842
    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_001366157.1 → NP_001353086.1  WD repeat-containing protein 49 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC069530, AC079822, AC117425
    Consensus CDS
    CCDS93422.1
    UniProtKB/TrEMBL
    A0A804HJG6
    Related
    ENSP00000507497.1, ENST00000682715.1
    Conserved Domains (2) summary
    sd00039
    Location:143 → 186
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:482 → 853
    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_001366158.1 → NP_001353087.1  WD repeat-containing protein 49 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC079822, BC035512
    Consensus CDS
    CCDS93421.1
    UniProtKB/Swiss-Prot
    Q8IV35, Q8N297
    UniProtKB/TrEMBL
    B4DG33
    Related
    ENSP00000311343.3, ENST00000308378.7
    Conserved Domains (2) summary
    sd00039
    Location:67 → 102
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:141 → 501
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    167478684..167657923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    170262569..170441822 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IV35.1 GenPept UniProtKB/Swiss-Prot:Q8IV35

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