NP_055935.4
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
425,137 Da
NCBI Official Full Name
Alstrom syndrome protein 1
NCBI Official Synonym Full Names
Alstrom syndrome 1
NCBI Official Synonym Symbols
NCBI Protein Information
Alstrom syndrome protein 1
UniProt Protein Name
Alstrom syndrome protein 1
UniProt Synonym Gene Names
UniProt Entry Name
ALMS1_HUMAN
NCBI Summary for 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]
UniProt Comments for ALMS1
ALMS1: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. Defects in ALMS1 are the cause of Alstrom syndrome (ALMS). Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell cycle regulation
Chromosomal Location of Human Ortholog: 2p13
Cellular Component: nucleoplasm; centriole; spindle pole; centrosome; cytoplasm; nucleus; cytosol; cilium
Molecular Function: protein binding
Biological Process: regulation of stress fiber formation; organelle organization and biogenesis; mitotic cell cycle; endosome transport; G2/M transition of mitotic cell cycle
Disease: Alstrom Syndrome
Research Articles on ALMS1
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Products associated with ALMS1 elisa kit
Pathways associated with ALMS1 elisa kit
Diseases associated with ALMS1 elisa kit
Organs/Tissues associated with ALMS1 elisa kit
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