InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WDR34

Summary

InnateDB Protein

IDBP-88474.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

WDR34

Protein Name

WD repeat domain 34

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000361800

InnateDB Gene

IDBG-88472 (WDR34)

Protein Structure

UniProt Annotation

Function

Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation. {ECO:0000269PubMed:19521662, ECO:0000269PubMed:24183449}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19521662}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:19521662}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269PubMed:19521662}. Note=Concentrates around the centrioles and basal bodies also showing axonemal staining. {ECO:0000250}.

Disease Associations

Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:24183449, ECO:0000269PubMed:24183451}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in several cell lines (at protein level). {ECO:0000269PubMed:19521662}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	12 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0045087

innate immune response (InnateDB)

Cellular Component

GO:0005814	centriole
GO:0005930	axoneme
GO:0036064	ciliary basal body

Protein Structure and Domains

PDB ID

InterPro

IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain

PFAM

PF00400

PRINTS

PIRSF

SMART

SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96EX3

PhosphoSite

PhosphoSite-Q96EX3

TrEMBL

UniProt Splice Variant

Entrez Gene

89891

UniGene

RefSeq

NP_443076

HUGO

HGNC:28296

OMIM

613363

CCDS

CCDS6906

HPRD

15666

IMGT

EMBL

AL356481 BC001614 BC011874

GenPept

AAH01614 AAH11874 CAH71407