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ALMS1 protein (Alstrom syndrome protein 1, KIAA0328)
Function:
1) intracellular trafficking
2) involved in insulin resistance syndrome
3) phosphorylated upon DNA damage, probably by ATM or ATR
Compartment:
- cytoplasm
- centrosome
- basal body at the base of primary cilia
- during mitosis localizes to spindle poles
Alternative splicing: named isoforms=3
Expression:
- expressed in all tissues tested including adipose tissue & pancreas
- expressed by beta-cells of the islets in the pancreas (at protein level)
- widely expressed in fetal tissues
- detected in fetal pancreas, skeletal muscle, liver, kidney & brain (at protein level)
- expressed in fetal aorta & brain
Pathology:
- mutations associated with Alstrom syndrome 1
Related
ALMS1 gene
Alstrom syndrome
General
phosphoprotein
Properties
SIZE: entity length = 4167 aa
MW = 461 kD
MOTIF: glutamate-rich region {2-75}
MOTIF: glutamate residue (SEVERAL)
Tandem repeat {538-2199}
leucine zipper
SITE: 2480-2501
FOR-BINDING-VIA: leucine zipper
Ser phosphorylation site {S2779}
Ser phosphorylation site {S3406}
nuclear translocation signal {3805-3830}
Database Correlations
OMIM correlations
UniProt Q8TCU4
Entrez Gene 7840
References
- Collin GB et al
Mutations in ALMS1 cause obesity, type 2 diabetes and
neurosensory degeneration in Alstrom syndrome.
Nature genetics 31:74-78, 2002
PMID: 11941
- Hearn T et al
Mutation of ALMS1, a large gene with a tandem repeat
encoding 47 amino acids, causes Alstrom syndrome.
Nature genetics 31:79-83, 2002
PMID: 11941370
- UniProt :accession Q8TCU4
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ALMS1