SLC7A14: Difference between revisions

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Importing Wikidata short description: Protein-coding gene in the species Homo sapiens (shortdescs-in-category)
 
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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Underlinked|date=August 2014}}
{{Infobox_gene}}

{{PBB|geneid=57709}}


'''Solute carrier family 7, member 14''' is a [[protein]] that in humans is encoded by the SLC7A14 [[gene]].
'''Solute carrier family 7, member 14''' is a [[protein]] that in humans is encoded by the SLC7A14 [[gene]].
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{{cite web
{{cite web
| title = Entrez Gene: Solute carrier family 7, member 14
| title = Entrez Gene: Solute carrier family 7, member 14
| url = http://www.ncbi.nlm.nih.gov/gene/57709
| url = https://www.ncbi.nlm.nih.gov/gene/57709
| accessdate = 2014-08-12 <!-- T06:57:06.149762-08:00 -->
| access-date = 2014-08-12 <!-- T06:57:06.149762-08:00 -->
}}</ref>
}}</ref>


==Function==



This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014].
This gene is predicted to encode a [[glycosylated]], cationic amino acid [[transporter protein]] with 14 transmembrane domains. This gene is primarily expressed in skin [[fibroblasts]], [[neural tissue]]e, [[photoreceptor cells]], [[hair cells]] and primary [[endothelial cells]] and its protein is predicted to mediate [[lysosomal]] uptake of cationic amino acids. In mice, this gene is expressed in the [[Photoreceptor cell|photoreceptor]] layer of the [[retina]] where its [[gene expression|expression]] increases over the course of retinal development and persists in the mature retina. The gene is also highly expressed in all vertebrate hair cells. In the mammalian inner ear, this gene is expressed in neonatal inner and outer hair cells during development and becomes specifically expressed in inner hair cells in adult animals <ref>Reference 3</ref>, <ref>Reference 4</ref>.[[Mutations]] in this gene are associated with autosomal recessive [[retinitis pigmentosa]] and [[hearing loss]] in the form of [[auditory neuropathy]].


== References ==
== References ==
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{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A, Nicolaescu E, Lesage B, Bollen M | title = Docking motif-guided mapping of the interactome of protein phosphatase-1 | journal = Chemistry & Biology | volume = 16 | issue = 4 | pages = 365–71 | date = April 2009 | pmid = 19389623 | doi = 10.1016/j.chembiol.2009.02.012 | doi-access = free }}
*{{Cite journal
* {{cite journal | vauthors = Jaenecke I, Boissel JP, Lemke M, Rupp J, Gasnier B, Closs EI | title = A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport | journal = The Journal of Biological Chemistry | volume = 287 | issue = 36 | pages = 30853–60 | date = August 2012 | pmid = 22787143 | pmc = 3436328 | doi = 10.1074/jbc.M112.350322 | doi-access = free }}
| pmid = 19389623
* {{cite journal | vauthors = Giffen KP, Li Y, Liu H, Zhao XC, Zhang CJ, Shen RJ, Wang T, Janesick A, Chen BB, Gong SS, Kachar B, Jin ZB, He DZ | title = Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction | journal = Science Advances | volume = 8 | issue = eabk0942 | pages = 1–17 | date = April 2022 | pmid = 35394837 | pmc = 8993119 | doi = 10.1126/sciadv.abk0942 | doi-access = free }}
| year = 2009
| author1 = Hendrickx
| first1 = A
| title = Docking motif-guided mapping of the interactome of protein phosphatase-1
| journal = Chemistry & Biology
| volume = 16
| issue = 4
| pages = 365–71
| last2 = Beullens
| first2 = M
| last3 = Ceulemans
| first3 = H
| last4 = Den Abt
| first4 = T
| last5 = Van Eynde
| first5 = A
| last6 = Nicolaescu
| first6 = E
| last7 = Lesage
| first7 = B
| last8 = Bollen
| first8 = M
| doi = 10.1016/j.chembiol.2009.02.012
}}
*{{Cite journal
| pmid = 22787143
| pmc = 3436328
| year = 2012
| author1 = Jaenecke
| first1 = I
| title = A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport
| journal = The Journal of Biological Chemistry
| volume = 287
| issue = 36
| pages = 30853–60
| last2 = Boissel
| first2 = J. P.
| last3 = Lemke
| first3 = M
| last4 = Rupp
| first4 = J
| last5 = Gasnier
| first5 = B
| last6 = Closs
| first6 = E. I.
| doi = 10.1074/jbc.M112.350322
}}

{{refend}}
{{refend}}


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[[Category:Genes on human chromosome 3]]
[[Category:Genes on human chromosome 3]]
[[Category:Solute carrier family]]




Latest revision as of 22:22, 3 March 2023

SLC7A14
Identifiers
AliasesSLC7A14, PPP1R142, solute carrier family 7 member 14
External IDsOMIM: 615720 MGI: 3040688 HomoloGene: 76320 GeneCards: SLC7A14
Orthologs
SpeciesHumanMouse
Entrez

57709

241919

Ensembl

ENSG00000013293

ENSMUSG00000069072

UniProt

Q8TBB6

Q8BXR1

RefSeq (mRNA)

NM_020949
NM_175917

NM_172861

RefSeq (protein)

NP_066000

NP_766449

Location (UCSC)Chr 3: 170.46 – 170.59 MbChr 3: 31.26 – 31.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. [5]


This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissuee, photoreceptor cells, hair cells and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. The gene is also highly expressed in all vertebrate hair cells. In the mammalian inner ear, this gene is expressed in neonatal inner and outer hair cells during development and becomes specifically expressed in inner hair cells in adult animals [6], [7].Mutations in this gene are associated with autosomal recessive retinitis pigmentosa and hearing loss in the form of auditory neuropathy.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000013293 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000069072 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Solute carrier family 7, member 14". Retrieved 2014-08-12.
  6. ^ Reference 3
  7. ^ Reference 4

Further reading[edit]

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


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