Human Gene SLC6A8 (uc004fib.3)
  Description: Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.
RefSeq Summary (NM_005629): The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
Transcript (Including UTRs)
   Position: hg19 chrX:152,953,752-152,962,048 Size: 8,297 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:152,954,030-152,960,669 Size: 6,640 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:152,953,752-152,962,048)mRNA (may differ from genome)Protein (635 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SC6A8_HUMAN
DESCRIPTION: RecName: Full=Sodium- and chloride-dependent creatine transporter 1; Short=CT1; Short=Creatine transporter 1; AltName: Full=Solute carrier family 6 member 8;
FUNCTION: Required for the uptake of creatine in muscles and brain.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.
DISEASE: Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia.
SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC6A8
CDC HuGE Published Literature: SLC6A8

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC6A8
Diseases sorted by gene-association score: cerebral creatine deficiency syndrome 1* (1591), creatine deficiency syndromes* (120), slc6a8-related creatine transporter deficiency* (100), cerebral creatine deficiency syndrome (29), cerebral creatine deficiency syndrome 2 (10), cerebral creatine deficiency syndrome 3 (10), hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (8), amino acid metabolic disorder (4), autism spectrum disorder (2), specific developmental disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.41 RPKM in Heart - Left Ventricle
Total median expression: 1132.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -123.50278-0.444 Picture PostScript Text
3' UTR -524.731379-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000175 - Na/ntran_symport
IPR002984 - Na/ntran_symport_creatine

Pfam Domains:
PF00209 - Sodium:neurotransmitter symporter family

ModBase Predicted Comparative 3D Structure on P48029
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005308 creatine transmembrane transporter activity
GO:0005309 creatine:sodium symporter activity
GO:0005328 neurotransmitter:sodium symporter activity
GO:0015293 symporter activity

Biological Process:
GO:0006600 creatine metabolic process
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006836 neurotransmitter transport
GO:0006936 muscle contraction
GO:0015881 creatine transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF211523 - JP 2014500723-A/19026: Polycomb-Associated Non-Coding RNAs.
L31409 - Homo sapiens creatine transporter mRNA, complete cds.
BC081558 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8, mRNA (cDNA clone MGC:87396 IMAGE:4823748), complete cds.
JD126229 - Sequence 107253 from Patent EP1572962.
MA447100 - JP 2018138019-A/19026: Polycomb-Associated Non-Coding RNAs.
JD406037 - Sequence 387061 from Patent EP1572962.
JD129438 - Sequence 110462 from Patent EP1572962.
JD142243 - Sequence 123267 from Patent EP1572962.
AB209704 - Homo sapiens mRNA for solute carrier family 6 (neurotransmitter transporter, creatine), member 8 variant protein.
S74039 - Homo sapiens creatine transporter (creatine transporter, hCRT-BS2M) mRNA, complete cds.
BC012355 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8, mRNA (cDNA clone MGC:20403 IMAGE:4634609), complete cds.
DQ892306 - Synthetic construct clone IMAGE:100004936; FLH185069.01X; RZPDo839E11146D solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8) gene, encodes complete protein.
DQ895505 - Synthetic construct Homo sapiens clone IMAGE:100009965; FLH185065.01L; RZPDo839E11145D solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8) gene, encodes complete protein.
KJ534942 - Homo sapiens clone SLC6A8_iso-D_adult-A01 solute carrier family 6 member 8 isoform D (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534943 - Homo sapiens clone SLC6A8_iso-A_adult-A04 solute carrier family 6 member 8 isoform A (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534944 - Homo sapiens clone SLC6A8_iso-B_fetal-F05 solute carrier family 6 member 8 isoform B (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534945 - Homo sapiens clone SLC6A8_iso-C_fetal-F11 solute carrier family 6 member 8 isoform C (SLC6A8) mRNA, partial cds, alternatively spliced.
AK295495 - Homo sapiens cDNA FLJ51860 complete cds, highly similar to Sodium-and chloride-dependent creatinetransporter 1.
AK309060 - Homo sapiens cDNA, FLJ99101.
JD239175 - Sequence 220199 from Patent EP1572962.
JD497194 - Sequence 478218 from Patent EP1572962.
JD420355 - Sequence 401379 from Patent EP1572962.
JD541082 - Sequence 522106 from Patent EP1572962.
JD432841 - Sequence 413865 from Patent EP1572962.
LF380729 - JP 2014500723-A/188232: Polycomb-Associated Non-Coding RNAs.
KC800563 - Homo sapiens creatine transporter SLC6A8 variant D (SLC6A8) mRNA, complete cds, alternatively spliced.
EU280316 - Homo sapiens creatine transporter SLC6A8 splice variant C (SLC6A8) mRNA, complete cds, alternatively spliced.
U17986 - Human GABA/noradrenaline transporter mRNA, complete cds.
JD210760 - Sequence 191784 from Patent EP1572962.
JD201042 - Sequence 182066 from Patent EP1572962.
JD255885 - Sequence 236909 from Patent EP1572962.
JD184489 - Sequence 165513 from Patent EP1572962.
LF380735 - JP 2014500723-A/188238: Polycomb-Associated Non-Coding RNAs.
LF380736 - JP 2014500723-A/188239: Polycomb-Associated Non-Coding RNAs.
JD513132 - Sequence 494156 from Patent EP1572962.
JD399861 - Sequence 380885 from Patent EP1572962.
JD565770 - Sequence 546794 from Patent EP1572962.
LF380738 - JP 2014500723-A/188241: Polycomb-Associated Non-Coding RNAs.
JD313651 - Sequence 294675 from Patent EP1572962.
JD507780 - Sequence 488804 from Patent EP1572962.
LF380739 - JP 2014500723-A/188242: Polycomb-Associated Non-Coding RNAs.
JD121584 - Sequence 102608 from Patent EP1572962.
JD121585 - Sequence 102609 from Patent EP1572962.
JD115685 - Sequence 96709 from Patent EP1572962.
JD320660 - Sequence 301684 from Patent EP1572962.
JD375844 - Sequence 356868 from Patent EP1572962.
JD099619 - Sequence 80643 from Patent EP1572962.
JD423775 - Sequence 404799 from Patent EP1572962.
MA616306 - JP 2018138019-A/188232: Polycomb-Associated Non-Coding RNAs.
MA616312 - JP 2018138019-A/188238: Polycomb-Associated Non-Coding RNAs.
MA616313 - JP 2018138019-A/188239: Polycomb-Associated Non-Coding RNAs.
MA616315 - JP 2018138019-A/188241: Polycomb-Associated Non-Coding RNAs.
MA616316 - JP 2018138019-A/188242: Polycomb-Associated Non-Coding RNAs.
JD054832 - Sequence 35856 from Patent EP1572962.
JD365576 - Sequence 346600 from Patent EP1572962.
JD054363 - Sequence 35387 from Patent EP1572962.
LF380741 - JP 2014500723-A/188244: Polycomb-Associated Non-Coding RNAs.
JD073913 - Sequence 54937 from Patent EP1572962.
JD481690 - Sequence 462714 from Patent EP1572962.
JD481691 - Sequence 462715 from Patent EP1572962.
JD471319 - Sequence 452343 from Patent EP1572962.
JD178120 - Sequence 159144 from Patent EP1572962.
JD064128 - Sequence 45152 from Patent EP1572962.
JD471736 - Sequence 452760 from Patent EP1572962.
LF380742 - JP 2014500723-A/188245: Polycomb-Associated Non-Coding RNAs.
JD197405 - Sequence 178429 from Patent EP1572962.
LF380743 - JP 2014500723-A/188246: Polycomb-Associated Non-Coding RNAs.
LF380744 - JP 2014500723-A/188247: Polycomb-Associated Non-Coding RNAs.
JD266797 - Sequence 247821 from Patent EP1572962.
JD180796 - Sequence 161820 from Patent EP1572962.
JD282287 - Sequence 263311 from Patent EP1572962.
JD049840 - Sequence 30864 from Patent EP1572962.
JD362657 - Sequence 343681 from Patent EP1572962.
JD374105 - Sequence 355129 from Patent EP1572962.
JD043862 - Sequence 24886 from Patent EP1572962.
JD065956 - Sequence 46980 from Patent EP1572962.
JD116048 - Sequence 97072 from Patent EP1572962.
JD496839 - Sequence 477863 from Patent EP1572962.
JD253379 - Sequence 234403 from Patent EP1572962.
JD438017 - Sequence 419041 from Patent EP1572962.
LF380745 - JP 2014500723-A/188248: Polycomb-Associated Non-Coding RNAs.
MA616318 - JP 2018138019-A/188244: Polycomb-Associated Non-Coding RNAs.
MA616319 - JP 2018138019-A/188245: Polycomb-Associated Non-Coding RNAs.
MA616320 - JP 2018138019-A/188246: Polycomb-Associated Non-Coding RNAs.
MA616321 - JP 2018138019-A/188247: Polycomb-Associated Non-Coding RNAs.
MA616322 - JP 2018138019-A/188248: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P48029 (Reactome details) participates in the following event(s):

R-HSA-200396 Creatine transport across the plasma membrane
R-HSA-71288 Creatine metabolism
R-HSA-351202 Metabolism of polyamines
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2KY47, NM_005629, NP_001136278, P48029, Q13032, Q66I36, SC6A8_HUMAN
UCSC ID: uc004fib.3
RefSeq Accession: NM_005629
Protein: P48029 (aka SC6A8_HUMAN or S6A8_HUMAN)
CCDS: CCDS14726.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC6A8:
dystonia-ov (Hereditary Dystonia Overview)
creatine (Creatine Deficiency Syndromes)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005629.3
exon count: 13CDS single in 3' UTR: no RNA size: 3580
ORF size: 1908CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3730.00frame shift in genome: no % Coverage: 99.58
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.