ANOS1

Anosmin 1 is a protein that in humans is encoded by the ANOS1 gene.

ANOS1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1ZLG
Identifiers
Aliases	ANOS1, ADMLX, HH1, HHA, KAL, KALIG-1, KMS, WFDC19, KAL1, anosmin 1
External IDs	OMIM: 300836; HomoloGene: 55445; GeneCards: ANOS1; OMA:ANOS1 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp22.31 Start 8,528,874 bp End 8,732,137 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura hair follicle Skeletal muscle tissue of rectus abdominis tibia glutes bronchial epithelial cell lower lobe of lung triceps brachii muscle parietal pleura mucosa of paranasal sinus n/a More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase inhibitor activity heparin binding extracellular matrix structural constituent protein binding serine-type endopeptidase inhibitor activity Cellular component plasma membrane membrane extracellular region extracellular space extracellular matrix Biological process negative regulation of peptidase activity cell adhesion negative regulation of endopeptidase activity axon guidance fibroblast growth factor receptor signaling pathway chemotaxis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3730 n/a Ensembl ENSG00000011201 n/a UniProt P23352 n/a RefSeq (mRNA) NM_000216 n/a RefSeq (protein) NP_000207 n/a Location (UCSC) Chr X: 8.53 – 8.73 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

Function

Mutations in this gene cause the X-linked Kallmann Syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated, and may have antiprotease activity. [provided by RefSeq, Jul 2008].

Further reading

• Söderlund D, Canto P, Méndez JP (June 2002). "Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome". The Journal of Clinical Endocrinology & Metabolism. 87 (6): 2589–92. doi:10.1210/jcem.87.6.8611. PMID 12050219.
• Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP (April 2003). "Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome". Nature Genetics. 33 (4): 463–465. doi:10.1038/ng1122. PMID 12627230.
• Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T (March 2004). "Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients". The Journal of Clinical Endocrinology & Metabolism. 89 (3): 1079–88. doi:10.1210/jc.2003-030476. PMID 15001591.
• Lee SH, Han JH, Cho SW, Lee WH, Cha KY, Lee MH (February 2004). "Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency". Yonsei Medical Journal. 45 (1): 107–12. doi:10.3349/ymj.2004.45.1.107. PMID 15004876.
• Hu Y, González-Martínez D, Kim SH, Bouloux PM (December 2004). "Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator". Biochemical Journal. 384 (Pt 3): 495–505. doi:10.1042/BJ20041078. PMC 1134135. PMID 15324302.
• Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R (November 2004). "The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons" (PDF). Human Molecular Genetics. 13 (22): 2781–91. doi:10.1093/hmg/ddh309. PMID 15471890. S2CID 5248283. Archived from the original (PDF) on 2019-02-26.
• González-Martínez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J, Bouloux PM (November 2004). "Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism" (PDF). Journal of Neuroscience. 24 (46): 10384–92. doi:10.1523/JNEUROSCI.3400-04.2004. PMC 6730313. PMID 15548653.
• Söderlund D, Vilchis F, Méndez JP (September 2004). "Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms". Journal of Endocrinological Investigation. 27 (8): 765–9. doi:10.1007/BF03347520. PMID 15636431. S2CID 24410365.
• Hu Y, Sun Z, Eaton JT, Bouloux PM, Perkins SJ (July 2005). "Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling". Journal of Molecular Biology. 350 (3): 553–70. doi:10.1016/j.jmb.2005.04.031. PMID 15949815.

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