ALMS1

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

Description

ALMS1 centrosome and basal body associated protein

Tissue specificity

Tissue enhanced (testis)

Subcell location

Nuclear speckles, Centrosome, Cytosol

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

2 (73385758 - 73625166)

Ensembl ID

ENSG00000116127  (ver. 103.38)

Orthologs

Mouse Alms1: ENSMUSG00000063810

UniProt

Q8TCU4

neXtProt

NX_Q8TCU4

Human splice variants
Mouse splice variants

Protein structure