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    WDR11 WD repeat domain 11 [ Homo sapiens (human) ]

    Gene ID: 55717, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR11provided by HGNC
    Official Full Name
    WD repeat domain 11provided by HGNC
    Primary source
    HGNC:HGNC:13831
    See related
    Ensembl:ENSG00000120008 MIM:606417; AllianceGenome:HGNC:13831
    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
    DR11; HH14; SRI1; BRWD2; WDR15
    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. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.7), appendix (RPKM 14.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR11 in Genome Data Viewer
    Location:
    10q26.12
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (120851362..120909524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (121747910..121806084)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (122610874..122669036)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1561 Neighboring gene long intergenic non-protein coding RNA 2930 Neighboring gene NANOG hESC enhancer GRCh37_chr10:122404247-122405040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4135 Neighboring gene WDR11 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:122558239-122558907 Neighboring gene H3K27ac hESC enhancers GRCh37_chr10:122610516-122611060 and GRCh37_chr10:122611061-122611604 Neighboring gene uncharacterized LOC105378519 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:122669667-122670866 Neighboring gene Sharpr-MPRA regulatory region 5528 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10489 Neighboring gene uncharacterized LOC105378520 Neighboring gene uncharacterized LOC105378521 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:122784424-122784924 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:122784925-122785425

    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. Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication. Taylor KE, et al. J Virol, 2015 Oct. PMID 26178983, Free PMC Article
    2. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Haag N, et al. Eur J Hum Genet, 2021 Nov. PMID 34413497, Free PMC Article
    3. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. McCormack SE, et al. J Clin Endocrinol Metab, 2017 Jul 1. PMID 28453858, Free PMC Article
    4. A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells. Chernova OB, et al. Oncogene, 2001 Aug 30. PMID 11536051
    5. FGFR2 and WDR11 are neighboring oncogene and tumor suppressor gene on human chromosome 10q26. Katoh M, et al. Int J Oncol, 2003 May. PMID 12684685

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.
      Title: Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.
    2. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
      Title: Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
    3. Our study reveals a novel class of ciliopathy caused by WDR11 mutations and suggests that CHH/KS may be a part of the human ciliopathy spectrum.
      Title: WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
    4. Data indicate a functional link between adaptor protein complex 1 (AP-1) and the WD repeat protein 11 (WDR11) complex.
      Title: The WDR11 complex facilitates the tethering of AP-1-derived vesicles.
    5. WDR11 genetic mutation is responsible for the pathophysiology of pituitary stalk interruption syndrome.
      Title: Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
    6. Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.
      Title: Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.
    7. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome, causing impaired pubertal development.
      Title: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    9. Data show that the HTPAPL-WDR11-FGFR2 locus was more susceptible to recombination than to nucleotide substitution.
      Title: Recombination cluster around FGFR2-WDR11-HTPAPL locus on human chromosome 10q26.
    10. This gene is expressed on chromosome 10p26.
      Title: FGFR2 and WDR11 are neighboring oncogene and tumor suppressor gene on human chromosome 10q26.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42531, DKFZp434L1715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in head development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle tethering to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 11
    Names
    WD repeat domain 15
    WD repeat-containing protein 15
    bromodomain and WD repeat-containing protein 2
    sensitization to ricin complex subunit 1

    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_023290.1 RefSeqGene

      Range
      5188..63350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018117.12 → NP_060587.8  WD repeat-containing protein 11

      See identical proteins and their annotated locations for NP_060587.8

      Status: REVIEWED

      Source sequence(s)
      BC071564, DC342128
      Consensus CDS
      CCDS7619.1
      UniProtKB/Swiss-Prot
      Q5VWA1, Q9BZH6, Q9P2J6
      UniProtKB/TrEMBL
      B2RCJ6
      Related
      ENSP00000263461.5, ENST00000263461.11
      Conserved Domains (3) summary
      COG2319
      Location:475 → 833
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:714 → 747
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:54 → 179
      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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      120851362..120909524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269963.3 → XP_005270020.1  WD repeat-containing protein 11 isoform X1

      See identical proteins and their annotated locations for XP_005270020.1

      UniProtKB/TrEMBL
      Q9NVU3
      Conserved Domains (3) summary
      COG2319
      Location:216 → 574
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:455 → 488
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:226 → 561
      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. XM_047425458.1 → XP_047281414.1  WD repeat-containing protein 11 isoform X1

      UniProtKB/TrEMBL
      Q9NVU3

    3. XM_047425459.1 → XP_047281415.1  WD repeat-containing protein 11 isoform X1

      UniProtKB/TrEMBL
      Q9NVU3

    RNA

    1. XR_428707.4 RNA Sequence

    2. XR_007061973.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      121747910..121806084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366270.1 → XP_054222245.1  WD repeat-containing protein 11 isoform X2

    2. XM_054366268.1 → XP_054222243.1  WD repeat-containing protein 11 isoform X1

      UniProtKB/TrEMBL
      Q9NVU3

    3. XM_054366269.1 → XP_054222244.1  WD repeat-containing protein 11 isoform X1

      UniProtKB/TrEMBL
      Q9NVU3

    RNA

    1. XR_008488227.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZH6.1 GenPept UniProtKB/Swiss-Prot:Q9BZH6

    Gene LinkOut

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

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