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)

73612886 - 73837920

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116127 (version 75.37)

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
 
ALMS1-003
 
ALMS1-201
 
 
 
 
 

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 ENSP00000264448
ENST00000264448
Q8TCU4
Show all »
Show » Show » 4167 461 No 0
ALMS1-002 ENSP00000386627
ENST00000409009
B8ZZJ3
Show all »
Show » Show » 4125 456.3 No 0
ALMS1-003 ENSP00000399833
ENST00000423048
H7C1D9
Show all »
Show » 1023 112.9 No 0
ALMS1-201 ENSP00000366944
ENST00000377715
A6NMY3
Show all »
Show » 2561 279.1 No 0