WDR35 WD repeat domain 35 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: WDR35provided by HGNC
Official Full Name: WD repeat domain 35provided by HGNC
Primary source: HGNC:29250
See related: Ensembl:ENSG00000118965; HPRD:15667; MIM:613602; Vega:OTTHUMG00000090737
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; KIAA1336; MGC33196
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]

Help top of page

Genomic context

Location :: 2p24.1

Sequence :: Chromosome: 2; NC_000002.11 (20110024..20189884, complement)

See WDR35 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that short-rib polydactyly mutations affect key structural elements in WDR35.
Title: Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
Title: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
These results indicated that naofen may function as a novel modulator activating caspase-3, and promoting TNF-alpha-stimulated apoptosis.
Title: Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Short rib-polydactyly syndrome, type V

MIM: 614091

Help top of page

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:121598	BioGRID:107076	BCL6		BioGRID	PubMed	Affinity Capture-MS
BioGRID:121598	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
cell projection organization	IEA Inferred from Electronic Annotation more info
cilium assembly	IMP Inferred from Mutant Phenotype more info

Component	Evidence Code	Pubs
centrosome	ISS Inferred from Sequence or Structural Similarity more info
cilium	IEA Inferred from Electronic Annotation more info
cilium axoneme	ISS Inferred from Sequence or Structural Similarity more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
microtubule basal body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: WD repeat-containing protein 35

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

Help top of page

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

NG_021212.1 RefSeqGene

Range

5001..84861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001006657.1 → NP_001006658.1 WD repeat-containing protein 35 isoform 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, OTTHUMP00000115921, ENST00000345530, OTTHUMT00000207472

Conserved Domains (2) summary

pfam00637
Location:829 – 932
Blast Score: 88

Clathrin; Region in Clathrin and VPS

cl02567
Location:19 – 319
Blast Score: 166

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 ...
NM_020779.3 → NP_065830.2 WD repeat-containing protein 35 isoform 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, OTTHUMP00000115922, ENST00000281405, OTTHUMT00000207473

Conserved Domains (2) summary

pfam00637
Location:818 – 921
Blast Score: 88

Clathrin; Region in Clathrin and VPS

cl02567
Location:19 – 319
Blast Score: 165

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

20110024..20189884, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

19867423..19947167, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC013400.8 (124577..127541)	None
genomic	AC079145.4	AAX88936.1
genomic	CH471053.2	EAX00838.1
		EAX00839.1
		EAX00840.1
		EAX00841.1
mRNA	AB037757.2	BAA92574.2
mRNA	AK022866.1	None
mRNA	AK091205.1	BAG52306.1
mRNA	AK122917.1	BAG53797.1
mRNA	AK315094.1	None
mRNA	AL832903.1	CAH10636.1
mRNA	BC033951.1	None
mRNA	BC036659.2	AAH36659.1
mRNA	BX476609.1	None