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    WDR35 WD repeat domain 35 [ Homo sapiens (human) ]

    Gene ID: 57539, updated on 19-Sep-2024

    Summary

    Official Symbol
    WDR35provided by HGNC
    Official Full Name
    WD repeat domain 35provided by HGNC
    Primary source
    HGNC:HGNC:29250
    See related
    Ensembl:ENSG00000118965 MIM:613602; AllianceGenome:HGNC:29250
    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
    CED2; IFTA1; SRTD7; FAP118; IFT121; CFAP118
    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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
    Expression
    Broad expression in testis (RPKM 8.4), thyroid (RPKM 5.2) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See WDR35 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (19910263..19990105, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (19943794..20023609, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20110024..20189866, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20100705-20101586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20101587-20102467 Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20189663-20190166 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene WDR35 divergent transcript Neighboring gene matrilin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20211533-20212145 Neighboring gene lysosomal protein transmembrane 4 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15374

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cranioectodermal dysplasia 2
    MedGen: C3150874 OMIM: 613610 GeneReviews: Cranioectodermal Dysplasia
    Compare labs
    Short-rib thoracic dysplasia 7 with or without polydactyly
    MedGen: C3279792 OMIM: 614091 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1336, MGC33196

    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 cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    WD repeat-containing protein 35
    Names
    intraflagellar transport protein 121 homolog
    naofen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021212.1 RefSeqGene

      Range
      5019..84861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001006657.2NP_001006658.1  WD repeat-containing protein 35 isoform 1

      See identical proteins and their annotated locations for NP_001006658.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB037757, BC033951, BC036659, BX476609
      Consensus CDS
      CCDS33152.1
      UniProtKB/Swiss-Prot
      B3KVI5, Q4ZG01, Q8NE11, Q9P2L0
      Related
      ENSP00000314444.5, ENST00000345530.8
      Conserved Domains (4) summary
      COG2319
      Location:5192
      WD40; WD40 repeat [General function prediction only]
      pfam00637
      Location:829920
      Clathrin; Region in Clathrin and VPS
      sd00039
      Location:1769
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:19184
      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_020779.4NP_065830.2  WD repeat-containing protein 35 isoform 2

      See identical proteins and their annotated locations for NP_065830.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AB037757, BC033951, BC036659, BX476609
      Consensus CDS
      CCDS1695.1
      UniProtKB/Swiss-Prot
      Q9P2L0
      Related
      ENSP00000281405.5, ENST00000281405.9
      Conserved Domains (4) summary
      COG2319
      Location:5192
      WD40; WD40 repeat [General function prediction only]
      pfam00637
      Location:818909
      Clathrin; Region in Clathrin and VPS
      sd00039
      Location:1769
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:19184
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      19910263..19990105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533007.3XP_011531309.1  WD repeat-containing protein 35 isoform X1

      Conserved Domains (1) summary
      pfam00637
      Location:394485
      Clathrin; Region in Clathrin and VPS
    2. XM_047445199.1XP_047301155.1  WD repeat-containing protein 35 isoform X2

    RNA

    1. XR_426989.4 RNA Sequence

      Related
      ENST00000414212.5
    2. XR_939699.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      19943794..20023609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343186.1XP_054199161.1  WD repeat-containing protein 35 isoform X1

    2. XM_054343187.1XP_054199162.1  WD repeat-containing protein 35 isoform X2

    RNA

    1. XR_008486461.1 RNA Sequence

    2. XR_008486462.1 RNA Sequence