Anosmin-1 (original) (raw)
Anosmin-1 is a secreted, EM associated glycoprotein found in humans and other organisms responsible for normal development, which is expressed in the brain, spinal cord and kidney. Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of nerve cells, a role in the extracellular matrix has been postulated.
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| dbo:abstract | Anosmin-1 is a secreted, EM associated glycoprotein found in humans and other organisms responsible for normal development, which is expressed in the brain, spinal cord and kidney. Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of nerve cells, a role in the extracellular matrix has been postulated. During neural crest cell development, anosmin-1 plays a role in cranial neural cell formation by spatiotemporal regulation.Secreated anosmin-1 enhances FGF activity by promoting FGF8-FGFR1 complex formation, whereas inhibits both BMP5 and WNT3A activities. As a results, orchestrated regulation of FGF, BMP, and WNT by anosmin-1 control EMT and MET during neural crest cell development. In human retinal pigment epithelial cell (RPE), the expression of anosmin-1 is regulated by TGF-β which remain to be investigated. Anosmin-1 is encoded by a gene ANOS1 (earlier called ADMLX, KAL, KAL1, KALIG1). In human it is located on the X chromosome at Xp22.3 and is affected in some male individuals with Kallmann syndrome. This gene codes for a protein of the extracellular matrix named anosmin-1, which is involved in the migration of certain nerve cell precursors (neuroendocrine GnRH cells) during embryogenesis. Deletion or mutation of this gene results in loss of the functional protein and affects the proper development of the olfactory nerves and olfactory bulbs. In addition, neural cells that produce GnRH fail to migrate to the hypothalamus. Clinically, mutation results in the X-linked form of Kallmann syndrome. Individuals with Kallmann syndrome experience anosmia (lack of smell) and do not go through puberty (hypothalamic hypogonadotropic hypogonadism). ANOS1 is made of 14 exons and spans 120-200 kilobases. Mutations of ANOS1 may account for 14% of the cases of familial Kallmann syndrome and 11% of male sporadic cases. (en) ANOS1 (англ. Anosmin 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі X-хромосоми. Довжина поліпептидного ланцюга білка становить 680 амінокислот, а молекулярна маса — 76 112. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функціями належить до інгібіторів протеаз, . Задіяний у таких біологічних процесах, як клітинна адгезія, хемотаксис. Білок має сайт для зв'язування з з молекулою гепарину. Локалізований у клітинній мембрані, мембрані.Також секретований назовні. (uk) |
| dbo:arm | p |
| dbo:band | 22.32 |
| dbo:chromosome | X |
| dbo:entrezgene | 3730 |
| dbo:hgncid | 6211 |
| dbo:omim | 308700 (xsd:integer) |
| dbo:refseq | NM_000216 |
| dbo:symbol | ANOS1 KAL1, ADMLX |
| dbo:uniprot | P23352 |
| dbo:wikiPageExternalLink | http://www.dsi.univ-paris5.fr/genatlas/ https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=kms http://www.nextbio.com/b/home/home.nb%3Fq=kal1%23cat=Diseases&tab=lit |
| dbo:wikiPageID | 4950854 (xsd:integer) |
| dbo:wikiPageLength | 4161 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1046862190 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Puberty dbr:Epithelial–mesenchymal_transition dbr:Mutation dbr:Mesenchymal–epithelial_transition dbr:Morphogenesis dbr:Humans dbr:Hypothalamus dbr:Anosmia dbc:Proteins dbr:Glycoprotein dbr:Protein dbr:Hypogonadotropic_hypogonadism dbr:Kallmann_syndrome dbr:X_chromosome dbr:Bone_morphogenetic_protein dbr:Fibroblast_growth_factor dbr:Embryogenesis dbr:Organisms dbr:Exon dbr:Extracellular_matrix dbr:Olfactory_bulb dbr:WNT3A dbr:Olfactory_bulbs dbr:Neural_crest_cell dbr:Transforming_growth_factor-β dbr:Kilodalton dbr:Kilobase dbr:KAL-1_gene dbr:GnRH dbr:Genetic_deletion dbr:Nerve_cell dbr:Olfactory_nerves dbr:X-linked |
| dbp:altnames | Adhesion molecule-like X-linked, Kallmann syndrome protein (en) |
| dbp:altsymbols | KAL1, ADMLX (en) |
| dbp:arm | p (en) |
| dbp:band | 22.320000 (xsd:double) |
| dbp:chromosome | X (en) |
| dbp:ensembl | ENSG00000011201 (en) |
| dbp:entrezgene | 3730 (xsd:integer) |
| dbp:hgncid | 6211 (xsd:integer) |
| dbp:name | Anosmin-1 (en) |
| dbp:omim | 308700 (xsd:integer) |
| dbp:refseq | NM_000216 (en) |
| dbp:symbol | ANOS1 (en) |
| dbp:uniprot | P23352 (en) |
| dbp:wikiPageUsesTemplate | dbt:Reflist dbt:Short_description dbt:Infobox_protein |
| dcterms:subject | dbc:Proteins |
| gold:hypernym | dbr:EM |
| rdf:type | owl:Thing dbo:Biomolecule wikidata:Q206229 wikidata:Q8054 yago:Abstraction100002137 yago:Chemical114806838 yago:Compound114818238 yago:Macromolecule114944888 yago:Material114580897 yago:Matter100020827 yago:Molecule114682133 yago:OrganicCompound114727670 yago:Part113809207 yago:PhysicalEntity100001930 yago:Protein114728724 yago:Relation100031921 dbo:Protein yago:Substance100019613 yago:Thing100002452 yago:Unit109465459 yago:WikicatProteins |
| rdfs:comment | Anosmin-1 is a secreted, EM associated glycoprotein found in humans and other organisms responsible for normal development, which is expressed in the brain, spinal cord and kidney. Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of nerve cells, a role in the extracellular matrix has been postulated. (en) ANOS1 (англ. Anosmin 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі X-хромосоми. Довжина поліпептидного ланцюга білка становить 680 амінокислот, а молекулярна маса — 76 112. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин (uk) |
| rdfs:label | Anosmin-1 (en) ANOS1 (uk) |
| owl:sameAs | freebase:Anosmin-1 yago-res:Anosmin-1 wikidata:Anosmin-1 wikidata:Anosmin-1 dbpedia-uk:Anosmin-1 https://global.dbpedia.org/id/kKzp |
| prov:wasDerivedFrom | wikipedia-en:Anosmin-1?oldid=1046862190&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Anosmin-1 |
| foaf:name | Anosmin-1 (en) |
| is dbo:wikiPageRedirects of | dbr:KAL1_gene dbr:KAL-1 dbr:KAL-1_gene dbr:KAL1 dbr:Anosmin dbr:Anosmin1 dbr:Anosmin_1 |
| is dbo:wikiPageWikiLink of | dbr:KAL1_gene dbr:Hypogonadotropic_hypogonadism dbr:KAL-1 dbr:KAL-1_gene dbr:KAL1 dbr:Anosmin dbr:Anosmin1 dbr:Anosmin_1 |
| is foaf:primaryTopic of | wikipedia-en:Anosmin-1 |