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

Gene ID: 57539, updated on 17-Jun-2019

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
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; IFT121
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

Genomic context

See WDR35 in Genome Data Viewer
Location:
2p24.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (19910260..19990105, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20110024..20189884, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 954 Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene uncharacterized LOC101928222 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene matrilin 3 Neighboring gene lysosomal protein transmembrane 4 alpha

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cranioectodermal dysplasia 2
MedGen: C3150874 OMIM: 613610 GeneReviews: Cranioectodermal Dysplasia
Compare labs
Short rib polydactyly syndrome 5
MedGen: C3279792 OMIM: 614091 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1336, MGC33196

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
cellular response to paclitaxel IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
liver regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood vessel diameter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium TAS
Traceable Author Statement
more info
 
intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..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
    Q9P2L0
    Related
    ENSP00000314444.5, ENST00000345530.7
    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
    ENSP00000281405.4, ENST00000281405.8
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    19910260..19990105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533007.2XP_011531309.1  WD repeat-containing protein 35 isoform X1

    Conserved Domains (1) summary
    pfam00637
    Location:394485
    Clathrin; Region in Clathrin and VPS

RNA

  1. XR_426989.3 RNA Sequence

  2. XR_001738862.1 RNA Sequence

  3. XR_939699.3 RNA Sequence

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