WDR35 - WD repeat domain 35 Gene
Also Known as CED2; IFTA1; SRTD7; FAP118; IFT121; CFAP118
Species: Homo sapiens
About WDR35
This gene has 6 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 8.4), thyroid (RPKM 5.2) and 24 other tissues.
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]
WDR35 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001006657.2 | NP_001006658.1 | WD repeat-containing protein 35 isoform 1 |
| NM_020779.4 | NP_065830.2 | WD repeat-containing protein 35 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27932497 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
21473986 | GOA |
| acts upstream of or within intraciliary retrograde transport |
IMP
IMP: Inferred from mutant phenotype
|
20889716 | GOA |
| involved in intraciliary transport |
IMP
IMP: Inferred from mutant phenotype
|
29220510 | GOA |
| involved in protein localization to cilium |
IMP
IMP: Inferred from mutant phenotype
|
29220510 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of intraciliary transport particle A |
IDA
IDA: Inferred from direct assay
|
20889716 | GOA |
| part of intraciliary transport particle A |
IPI
IPI: Inferred from physical interaction
|
27173435 | GOA |
WDR35 Protein Structure
WD40: WD domain, G-beta repeat (65 - 98)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1181 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
WD repeat-containing protein 35 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
|
| Cranioectodermal Dysplasia 2 |
|
|
| Cranioectodermal Dysplasia |
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
|
| Short Rib-Polydactyly Syndrome |
|
|
| Cranioectodermal Dysplasia 1 |
|
|
| Ellis-Van Creveld Syndrome |
|
|
| Polydactyly |
|
|
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
|
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
|
| Weyers Acrofacial Dysostosis |
|
|
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
|
| Telecanthus |
|
|
| Short-Rib Thoracic Dysplasia 12 |
|
|
| Cleft Lip/Palate |
|
|
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
|
| Brachydactyly |
|
|
| Joubert Syndrome 17 |
|
|
| Hydrolethalus Syndrome 1 |
|
|
| Craniosynostosis |
|
|
| Bardet-Biedl Syndrome |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Acrofacial Dysostosis |
|
|
| Nephronophthisis |
|
|
| Tooth Agenesis |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Visceral Heterotaxy |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Joubert Syndrome 1 |
|
|
| Osteochondrodysplasia |
|
|
| Fundus Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
| Cone-Rod Dystrophy 2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | WDR35 | VGNC | VGNC:79792 |
| Bos taurus | WDR35 | VGNC | VGNC:107024 |
| Felis catus | WDR35 | VGNC | VGNC:67028 |
| Rattus norvegicus | WDR35 | RGD | RGD:1564116 |
| Canis familiaris | WDR35 | VGNC | VGNC:48362 |
| Mus musculus | WDR35 | MGD | MGI:1921932 |
| Others | WDR35 | NCBI |