ANOS1

Anosmin 1 is a protein that in humans is encoded by the ANOS1 gene.^[3]

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)[1] Band Xp22.31 Start 8,528,874 bp[1] End 8,732,137 bp[1]
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 [2] 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].