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

    Gene ID: 151790, updated on 6-Jun-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
    Also known as
    CFAP337
    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
    mouse all
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    Genomic context

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    See WDR49 in Genome Data Viewer
    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 337
    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  cilia- and flagella-associated protein 337 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  cilia- and flagella-associated protein 337 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  cilia- and flagella-associated protein 337 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC069530, AC079822, AC117425
      Consensus CDS
      CCDS93422.1
      UniProtKB/Swiss-Prot
      A0A804HJG6, Q8IV35, Q8N297
      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  cilia- and flagella-associated protein 337 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079822, BC035512
      Consensus CDS
      CCDS93421.1
      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
    Q8IV35.2 GenPept UniProtKB/Swiss-Prot:Q8IV35

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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