ALMS1

GENE INFORMATION

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Gene name

ALMS1 (HGNC Symbol)

Synonyms

KIAA0328

Description

Alstrom syndrome 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2

Cytoband

p13.1

Chromosome location (bp)

73385758 - 73610793

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116127 (version 78.38)

Entrez gene

7840

UniProt

Q8TCU4 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TCU4

Antibodypedia

ALMS1 antibodies
 

PROTEIN VIEW

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ALMS1-001
 
ALMS1-002
 
ALMS1-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALMS1-001 ENSP00000482968
ENST00000613296
Q8TCU4
Show all »
Show » Show » 4168 461.1 No 0
ALMS1-002 ENSP00000478155
ENST00000484298
Show » 4126 456.4 No 0
ALMS1-008 ENSP00000479094
ENST00000614410
Show » 3859 425.2 No 0