DYNC2I1

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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

Description

Dynein 2 intermediate chain 1

Tissue specificity

Low tissue specificity

Subcell location

Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (158856558 - 158956747)

Ensembl ID

ENSG00000126870  (ver. 103.38)

Orthologs

Mouse Dync2i1: ENSMUSG00000042050

UniProt

Q8WVS4

neXtProt

NX_Q8WVS4

Human splice variants
Mouse splice variants

Protein structure