Anosmin-1: Difference between revisions
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| AltSymbols = KAL1, ADMLX | | AltSymbols = KAL1, ADMLX | ||
| EntrezGene = 3730 | | EntrezGene = 3730 | ||
| Ensembl = ENSG00000011201 | |||
| OMIM = 308700 | | OMIM = 308700 | ||
| RefSeq = NM_000216 | | RefSeq = NM_000216 | ||
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| LocusSupplementaryData = | | LocusSupplementaryData = | ||
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'''Anosmin-1''' is a secreted, [[Extracellular matrix|EM associated]] [[glycoprotein]] found in [[humans]] and other [[organisms]] responsible for normal [[morphogenesis|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 bulb]]s and [[GnRH]] secretion leading to [[anosmia]] and [[hypothalamus|hypothalamic]] [[hypogonadotropic hypogonadism]]. Anosmin-1 is coded by the [[KAL-1 gene]], which is found on the [[X chromosome]]. Anosmin-1 is 100 [[kilodalton]]s and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of [[nerve cell]]s, a role in the [[extracellular matrix]] has been postulated.<ref>{{cite journal| | '''Anosmin-1''' is a secreted, [[Extracellular matrix|EM associated]] [[glycoprotein]] found in [[humans]] and other [[organisms]] responsible for normal [[morphogenesis|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 bulb]]s and [[GnRH]] secretion leading to [[anosmia]] and [[hypothalamus|hypothalamic]] [[hypogonadotropic hypogonadism]]. Anosmin-1 is coded by the [[KAL-1 gene]], which is found on the [[X chromosome]]. Anosmin-1 is 100 [[kilodalton]]s and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of [[nerve cell]]s, a role in the [[extracellular matrix]] has been postulated.<ref>{{cite journal | vauthors = Endo Y, Ishiwata-Endo H, Yamada KM | title = Extracellular matrix protein anosmin promotes neural crest formation and regulates FGF, BMP, and WNT activities | journal = Developmental Cell | volume = 23 | issue = 2 | pages = 305–16 | date = August 2012 | pmid = 22898776 | pmc = 3422507 | doi = 10.1016/j.devcel.2012.07.006 }}</ref> | ||
During [[neural crest cell]] development, anosmin-1 plays a role in cranial neural cell formation by spatiotemporal regulation. | During [[neural crest cell]] development, anosmin-1 plays a role in cranial neural cell formation by spatiotemporal regulation. | ||
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In human retinal pigment epithelial cell(RPE), the expression of anosmin-1 is regulated by [[Transforming growth factor-β|TGF-β]] which remain to be investigated. | In human retinal pigment epithelial cell(RPE), the expression of anosmin-1 is regulated by [[Transforming growth factor-β|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]].<ref>{{cite journal| | 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]].<ref>{{cite journal | vauthors = Raju R, Jian B, Hooks JJ, Nagineni CN | title = Transforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cells | journal = Cytokine | volume = 61 | issue = 3 | pages = 724–7 | date = March 2013 | pmid = 23357298 | pmc = 3595383 | doi = 10.1016/j.cyto.2012.12.019 | series = S1043-4666(12)00829-0 }}</ref> 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]]. [[Genetic deletion|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]]). | 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]]). | ||
Latest revision as of 06:13, 7 February 2018
| Anosmin-1 | |
|---|---|
| Identifiers | |
| Symbol | ANOS1 |
| Alt. symbols | KAL1, ADMLX |
| Alt. names | Adhesion molecule-like X-linked, Kallmann syndrome protein |
| Entrez | 3730 |
| HUGO | 6211 |
| OMIM | 308700 |
| RefSeq | NM_000216 |
| UniProt | P23352 |
| Other data | |
| Locus | Chr. X p22.32 |
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.[1]
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.[2] 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.
References
- ↑ Endo Y, Ishiwata-Endo H, Yamada KM (August 2012). "Extracellular matrix protein anosmin promotes neural crest formation and regulates FGF, BMP, and WNT activities". Developmental Cell. 23 (2): 305–16. doi:10.1016/j.devcel.2012.07.006. PMC 3422507. PMID 22898776.
- ↑ Raju R, Jian B, Hooks JJ, Nagineni CN (March 2013). "Transforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cells". Cytokine. S1043-4666(12)00829-0. 61 (3): 724–7. doi:10.1016/j.cyto.2012.12.019. PMC 3595383. PMID 23357298.