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Sodium- and chloride-dependent creatine transporter 1

From Wikipedia, the free encyclopedia
(Redirected fromSLC6A8)
Protein-coding gene in the species Homo sapiens
SLC6A8
Identifiers
AliasesSLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDsOMIM:300036;MGI:2147834;HomoloGene:4113;GeneCards:SLC6A8;OMA:SLC6A8 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for SLC6A8
Genomic location for SLC6A8
BandXq28Start153,687,926bp[1]
End153,696,588bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for SLC6A8
Genomic location for SLC6A8
BandX A7.3|X 37.38 cMStart72,716,756bp[2]
End72,726,108bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • inferior olivary nucleus

  • apex of heart

  • mucosa of ileum

  • optic nerve

  • dorsal motor nucleus of vagus nerve

  • muscle of thigh

  • gastrocnemius muscle

  • left ventricle

  • right auricle of heart

  • postcentral gyrus
Top expressed in
  • seminal vesicula

  • gastrula

  • decidua

  • left colon

  • duodenum

  • ileum

  • myocardium of ventricle

  • lip

  • jejunum

  • digastric muscle
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6535

102857

Ensembl

ENSG00000130821

ENSMUSG00000019558

UniProt

P48029

Q8VBW1

RefSeq (mRNA)

NM_005629
NM_001142805
NM_001142806

NM_001142809
NM_001142810
NM_133987

RefSeq (protein)

NP_001136277
NP_001136278
NP_005620

NP_001136281
NP_001136282
NP_598748

Location (UCSC)Chr X: 153.69 – 153.7 MbChr X: 72.72 – 72.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium- and chloride-dependent creatine transporter 1 is aprotein that in humans is encoded by theSLC6A8gene.[5][6]

Clinical significance

[edit]

Mutations of the SLC6A8 gene can causecerebral creatine deficiency syndrome 1.

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000130821 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000019558 –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. ^Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST (Jul 1995)."Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD".Genomics.25 (1):332–3.doi:10.1016/0888-7543(95)80155-F.PMID 7774949.
  6. ^"SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]".

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
(1):
(2):
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SLC11–20
(11):
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SLC21–30
(21):
(22):
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SLC31–40
(31):
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(36):
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SLC41–48
(41):
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(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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