Alms1, centrosome and basal body associated protein

ALMS1
Identifiers
Aliases	ALMS1, ALSS, centrosome and basal body associated protein, ALMS1 centrosome and basal body associated protein
External IDs	OMIM: 606844; MGI: 1934606; HomoloGene: 49406; GeneCards: ALMS1; OMA:ALMS1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p13.1 Start 73,385,758 bp End 73,625,166 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 C3 Start 85,564,513 bp End 85,679,735 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell periodontal fiber cardia renal medulla ventral tegmental area pylorus inferior ganglion of vagus nerve subthalamic nucleus nipple superior surface of tongue Top expressed in spermatid primary oocyte spermatocyte secondary oocyte tail of embryo zygote genital tubercle testicle epiblast uterus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding alpha-actinin binding molecular function Cellular component microtubule organizing center centriole cytosol centrosome cell projection spindle pole cilium cytoskeleton cytoplasm Biological process endosomal transport G2/M transition of mitotic cell cycle regulation of stress fiber assembly ciliary basal body-plasma membrane docking regulation of G2/M transition of mitotic cell cycle regulation of centriole replication positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7840 236266 Ensembl ENSG00000116127 ENSMUSG00000063810 UniProt Q8TCU4 Q8K4E0 RefSeq (mRNA) NM_015120 NM_001378454 NM_145223 RefSeq (protein) NP_055935 NP_660258 Location (UCSC) Chr 2: 73.39 – 73.63 Mb Chr 6: 85.56 – 85.68 Mb PubMed search
Wikidata
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ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene.

Function

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 maintenance 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].

Further reading

• Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK (May 2002). "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome". Nat. Genet. 31 (1): 74–8. doi:10.1038/ng867. PMID 11941369.
• Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (May 2002). "Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome". Nat. Genet. 31 (1): 79–83. doi:10.1038/ng874. PMID 11941370.
• 't Hart LM, Maassen JA, Dekker JM, Heine RJ, Maassen JA (July 2003). "Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus". Diabetologia. 46 (7): 1023–4. doi:10.1007/s00125-003-1138-0. PMID 12827243.
• Tai TS, Lin SY, Sheu WH (2003). "Metabolic effects of growth hormone therapy in an Alström syndrome patient". Horm. Res. 60 (6): 297–301. doi:10.1159/000074248. PMID 14646408.
• Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI (May 2005). "Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes". Diabetes. 54 (5): 1581–7. doi:10.2337/diabetes.54.5.1581. PMID 15855349.
• Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG (June 2006). "Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population". Diabetologia. 49 (6): 1209–13. doi:10.1007/s00125-006-0227-2. PMID 16601972.
• Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG (June 2006). "Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population". Diabetologia. 49 (6): 1209–13. doi:10.1007/s00125-006-0227-2. PMID 16601972.
• Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (November 2007). "Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome". Hum. Mutat. 28 (11): 1114–23. doi:10.1002/humu.20577. PMID 17594715.
• Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (November 2007). "Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome". Hum. Mutat. 28 (11): 1114–23. doi:10.1002/humu.20577. PMID 17594715.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.