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Protein

Sodium- and chloride-dependent creatine transporter 1

Gene

SLC6A8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the uptake of creatine in muscles and brain.

GO - Molecular functioni

GO - Biological processi

  • creatine metabolic process Source: Reactome
  • creatine transport Source: UniProtKB
  • muscle contraction Source: ProtInc
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-71288. Creatine metabolism.

Protein family/group databases

TCDBi2.A.22.3.11. the neurotransmitter:sodium symporter (nss) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium- and chloride-dependent creatine transporter 1
Short name:
CT1
Short name:
Creatine transporter 1
Alternative name(s):
Solute carrier family 6 member 8
Gene namesi
Name:SLC6A8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:11055. SLC6A8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6060CytoplasmicSequence analysisAdd
BLAST
Transmembranei61 – 8121HelicalSequence analysisAdd
BLAST
Topological domaini82 – 876ExtracellularSequence analysis
Transmembranei88 – 10821HelicalSequence analysisAdd
BLAST
Topological domaini109 – 13830CytoplasmicSequence analysisAdd
BLAST
Transmembranei139 – 15921HelicalSequence analysisAdd
BLAST
Topological domaini160 – 23071ExtracellularSequence analysisAdd
BLAST
Transmembranei231 – 25121HelicalSequence analysisAdd
BLAST
Topological domaini252 – 26918CytoplasmicSequence analysisAdd
BLAST
Transmembranei270 – 29021HelicalSequence analysisAdd
BLAST
Topological domaini291 – 30414ExtracellularSequence analysisAdd
BLAST
Transmembranei305 – 32521HelicalSequence analysisAdd
BLAST
Topological domaini326 – 34116CytoplasmicSequence analysisAdd
BLAST
Transmembranei342 – 36221HelicalSequence analysisAdd
BLAST
Topological domaini363 – 39432ExtracellularSequence analysisAdd
BLAST
Transmembranei395 – 41521HelicalSequence analysisAdd
BLAST
Topological domaini416 – 44429CytoplasmicSequence analysisAdd
BLAST
Transmembranei445 – 46521HelicalSequence analysisAdd
BLAST
Topological domaini466 – 47914ExtracellularSequence analysisAdd
BLAST
Transmembranei480 – 50021HelicalSequence analysisAdd
BLAST
Topological domaini501 – 52020CytoplasmicSequence analysisAdd
BLAST
Transmembranei521 – 54121HelicalSequence analysisAdd
BLAST
Topological domaini542 – 56019ExtracellularSequence analysisAdd
BLAST
Transmembranei561 – 58121HelicalSequence analysisAdd
BLAST
Topological domaini582 – 63554CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral creatine deficiency syndrome 1 (CCDS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.
See also OMIM:300352
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801Y → H in CCDS1. 1 Publication
VAR_071791
Natural varianti87 – 871G → R in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs122453115 [ dbSNP | Ensembl ].
VAR_020525
Natural varianti107 – 1071Missing in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075564
Natural varianti132 – 1321G → V in CCDS1. 1 Publication
Corresponds to variant rs122453117 [ dbSNP | Ensembl ].
VAR_063707
Natural varianti336 – 3361Missing in CCDS1; decreased creatine transporter activity. 2 Publications
VAR_070563
Natural varianti337 – 3371C → W in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs122453116 [ dbSNP | Ensembl ].
VAR_063708
Natural varianti347 – 3471Missing in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075565
Natural varianti381 – 3811G → R in CCDS1. 1 Publication
Corresponds to variant rs122453114 [ dbSNP | Ensembl ].
VAR_020526
Natural varianti383 – 3831G → C in CCDS1. 1 Publication
VAR_071792
Natural varianti390 – 3901P → L in CCDS1; decreased creatine transporter activity. 2 Publications
VAR_020527
Natural varianti391 – 3911R → W in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075566
Natural varianti408 – 4081Missing in CCDS1. 1 Publication
VAR_020528
Natural varianti448 – 4481A → D in CCDS1. 1 Publication
VAR_071793
Natural varianti491 – 4911C → W in CCDS1. 1 Publication
Corresponds to variant rs122453118 [ dbSNP | Ensembl ].
VAR_063709
Natural varianti539 – 5391V → I in CCDS1. 1 Publication
Corresponds to variant rs782354054 [ dbSNP | Ensembl ].
VAR_071794
Natural varianti552 – 5521V → L in CCDS1; unknown pathological significance; 35.0% of wild type creatine transporter activity. 1 Publication
Corresponds to variant rs372567920 [ dbSNP | Ensembl ].
VAR_074268
Natural varianti554 – 5541P → L in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs397515559 [ dbSNP | Ensembl ].
VAR_020529

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiSLC6A8.
MIMi300352. phenotype.
Orphaneti52503. X-linked creatine transporter deficiency.
PharmGKBiPA35915.

Chemistry

DrugBankiDB00148. Creatine.

Polymorphism and mutation databases

BioMutaiSLC6A8.
DMDMi1352529.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 635635Sodium- and chloride-dependent creatine transporter 1PRO_0000214774Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei42 – 421PhosphothreonineCombined sources
Glycosylationi192 – 1921N-linked (GlcNAc...)Sequence analysis
Glycosylationi197 – 1971N-linked (GlcNAc...)Sequence analysis
Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence analysis
Modified residuei617 – 6171PhosphothreonineCombined sources
Modified residuei620 – 6201PhosphothreonineCombined sources
Modified residuei623 – 6231PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP48029.
PaxDbiP48029.
PeptideAtlasiP48029.
PRIDEiP48029.

PTM databases

iPTMnetiP48029.
PhosphoSiteiP48029.
SwissPalmiP48029.

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.2 Publications

Gene expression databases

BgeeiENSG00000130821.
CleanExiHS_SLC6A8.
ExpressionAtlasiP48029. baseline and differential.
GenevisibleiP48029. HS.

Organism-specific databases

HPAiCAB004399.

Interactioni

Protein-protein interaction databases

BioGridi112426. 10 interactions.
IntActiP48029. 4 interactions.
STRINGi9606.ENSP00000253122.

Structurei

3D structure databases

ProteinModelPortaliP48029.
SMRiP48029. Positions 52-597.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000118857.
HOGENOMiHOG000203877.
HOVERGENiHBG071421.
InParanoidiP48029.
KOiK05039.
OMAiVPPRETW.
OrthoDBiEOG091G08PX.
PhylomeDBiP48029.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002984. Na/ntran_symport_creatine.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR01199. CRTTRANSPORT.
PR00176. NANEUSMPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48029-1) [UniParc]FASTAAdd to basket
Also known as: CRT1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAKKSAENGI YSVSGDEKKG PLIAPGPDGA PAKGDGPVGL GTPGGRLAVP
60 70 80 90 100
PRETWTRQMD FIMSCVGFAV GLGNVWRFPY LCYKNGGGVF LIPYVLIALV
110 120 130 140 150
GGIPIFFLEI SLGQFMKAGS INVWNICPLF KGLGYASMVI VFYCNTYYIM
160 170 180 190 200
VLAWGFYYLV KSFTTTLPWA TCGHTWNTPD CVEIFRHEDC ANASLANLTC
210 220 230 240 250
DQLADRRSPV IEFWENKVLR LSGGLEVPGA LNWEVTLCLL ACWVLVYFCV
260 270 280 290 300
WKGVKSTGKI VYFTATFPYV VLVVLLVRGV LLPGALDGII YYLKPDWSKL
310 320 330 340 350
GSPQVWIDAG TQIFFSYAIG LGALTALGSY NRFNNNCYKD AIILALINSG
360 370 380 390 400
TSFFAGFVVF SILGFMAAEQ GVHISKVAES GPGLAFIAYP RAVTLMPVAP
410 420 430 440 450
LWAALFFFML LLLGLDSQFV GVEGFITGLL DLLPASYYFR FQREISVALC
460 470 480 490 500
CALCFVIDLS MVTDGGMYVF QLFDYYSASG TTLLWQAFWE CVVVAWVYGA
510 520 530 540 550
DRFMDDIACM IGYRPCPWMK WCWSFFTPLV CMGIFIFNVV YYEPLVYNNT
560 570 580 590 600
YVYPWWGEAM GWAFALSSML CVPLHLLGCL LRAKGTMAER WQHLTQPIWG
610 620 630
LHHLEYRAQD ADVRGLTTLT PVSESSKVVV VESVM
Length:635
Mass (Da):70,523
Last modified:February 1, 1996 - v1
Checksum:i9FAFE100B2A5B845
GO
Isoform 2 (identifier: P48029-2) [UniParc]FASTAAdd to basket
Also known as: CRT2, SLC6A8B

The sequence of this isoform differs from the canonical sequence as follows:
     1-259: MAKKSAENGI...VWKGVKSTGK → MLPTLQIQGP...TASAEQPGPQ
     417-417: S → SQVCMGLWDREPGGGRREGCRQGKGWRRCGDRPELPWP
     464-464: D → DVSGVGGLPVTSGGRLPSSLTGLCPQ
     498-498: Y → YGRSWLRAGLGDGGGEGRSPAWPSRLTSPQ

Show »
Length:732
Mass (Da):80,137
Checksum:i1BC824884EC299A8
GO
Isoform 3 (identifier: P48029-3) [UniParc]FASTAAdd to basket
Also known as: SLC6A8C

The sequence of this isoform differs from the canonical sequence as follows:
     1-365: Missing.

Show »
Length:270
Mass (Da):30,580
Checksum:i398EA89851EAE536
GO
Isoform 4 (identifier: P48029-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.

Note: No experimental confirmation available.
Show »
Length:520
Mass (Da):58,453
Checksum:i83FF6FA9A9A8C1A3
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 252AP → VS in AAB32284 (PubMed:7945388).Curated
Sequence conflicti32 – 321A → S in AAB32284 (PubMed:7945388).Curated
Sequence conflicti38 – 381V → A in AAB32284 (PubMed:7945388).Curated
Sequence conflicti42 – 454TPGG → APSS in AAB32284 (PubMed:7945388).Curated
Sequence conflicti136 – 1361A → G in BAG58415 (PubMed:14702039).Curated
Sequence conflicti193 – 1931A → D in AAB32284 (PubMed:7945388).Curated
Sequence conflicti223 – 2231G → T in AAB32284 (PubMed:7945388).Curated
Sequence conflicti285 – 2851A → P in AAC41688 (PubMed:7953292).Curated
Sequence conflicti368 – 3681A → T in AAB32284 (PubMed:7945388).Curated
Sequence conflicti434 – 4341P → R in AAH81558 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41K → R Polymorphism; no effect on creatine transporter activity. 1 Publication
VAR_075562
Natural varianti26 – 261G → R Polymorphism; no effect on creatine transporter activity. 1 Publication
VAR_075563
Natural varianti80 – 801Y → H in CCDS1. 1 Publication
VAR_071791
Natural varianti87 – 871G → R in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs122453115 [ dbSNP | Ensembl ].
VAR_020525
Natural varianti107 – 1071Missing in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075564
Natural varianti132 – 1321G → V in CCDS1. 1 Publication
Corresponds to variant rs122453117 [ dbSNP | Ensembl ].
VAR_063707
Natural varianti164 – 1641T → S.
Corresponds to variant rs642454 [ dbSNP | Ensembl ].
VAR_034483
Natural varianti186 – 1861R → H Polymorphism; 82.0% of wild type creatine transporter activity. 1 Publication
Corresponds to variant rs372601430 [ dbSNP | Ensembl ].
VAR_074262
Natural varianti270 – 2701V → M Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs146985734 [ dbSNP | Ensembl ].
VAR_074263
Natural varianti294 – 2941K → Q Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs376937460 [ dbSNP | Ensembl ].
VAR_074264
Natural varianti314 – 3141F → L Polymorphism; 65.0% of wild type creatine transporter activity. 1 Publication
Corresponds to variant rs144678921 [ dbSNP | Ensembl ].
VAR_074265
Natural varianti318 – 3181A → T Polymorphism; 78.0% of wild type creatine transporter activity. 1 Publication
Corresponds to variant rs373953317 [ dbSNP | Ensembl ].
VAR_074266
Natural varianti336 – 3361Missing in CCDS1; decreased creatine transporter activity. 2 Publications
VAR_070563
Natural varianti337 – 3371C → W in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs122453116 [ dbSNP | Ensembl ].
VAR_063708
Natural varianti347 – 3471Missing in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075565
Natural varianti381 – 3811G → R in CCDS1. 1 Publication
Corresponds to variant rs122453114 [ dbSNP | Ensembl ].
VAR_020526
Natural varianti383 – 3831G → C in CCDS1. 1 Publication
VAR_071792
Natural varianti390 – 3901P → L in CCDS1; decreased creatine transporter activity. 2 Publications
VAR_020527
Natural varianti391 – 3911R → W in CCDS1; decreased creatine transporter activity. 1 Publication
VAR_075566
Natural varianti408 – 4081Missing in CCDS1. 1 Publication
VAR_020528
Natural varianti448 – 4481A → D in CCDS1. 1 Publication
VAR_071793
Natural varianti491 – 4911C → W in CCDS1. 1 Publication
Corresponds to variant rs122453118 [ dbSNP | Ensembl ].
VAR_063709
Natural varianti539 – 5391V → I in CCDS1. 1 Publication
Corresponds to variant rs782354054 [ dbSNP | Ensembl ].
VAR_071794
Natural varianti550 – 5501T → S.2 Publications
Corresponds to variant rs199635059 [ dbSNP | Ensembl ].
VAR_074267
Natural varianti552 – 5521V → L in CCDS1; unknown pathological significance; 35.0% of wild type creatine transporter activity. 1 Publication
Corresponds to variant rs372567920 [ dbSNP | Ensembl ].
VAR_074268
Natural varianti554 – 5541P → L in CCDS1; decreased creatine transporter activity. 2 Publications
Corresponds to variant rs397515559 [ dbSNP | Ensembl ].
VAR_020529
Natural varianti560 – 5601M → V Polymorphism; no effect on creatine transporter activity. 2 Publications
Corresponds to variant rs145438966 [ dbSNP | Ensembl ].
VAR_063710
Natural varianti564 – 5641F → L Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs201044530 [ dbSNP | Ensembl ].
VAR_074269
Natural varianti611 – 6111A → T Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs146949376 [ dbSNP | Ensembl ].
VAR_074270
Natural varianti624 – 6241E → K Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs368555229 [ dbSNP | Ensembl ].
VAR_074271
Natural varianti629 – 6291V → I Polymorphism; no effect on creatine transporter activity. 1 Publication
Corresponds to variant rs781899045 [ dbSNP | Ensembl ].
VAR_075567

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 365365Missing in isoform 3. 1 PublicationVSP_043916Add
BLAST
Alternative sequencei1 – 259259MAKKS…KSTGK → MLPTLQIQGPAAFAPGDRGP GRHCPFPVPITPTGALLPVS DSCDSLVDLVWPSVTYLALG TQSRVWPHPLGAPGQAGESP EQRRQCLELWDMASSLGDKV PRAACGKRGQTVWQLHLACL CLAQFHSPPAQPPPLSRRGG GPDPDPISRSLPGPPTPALP THSYSSHSPRAPRLLSPLRR APRGSPAPHRHASLQTNEAP RELPHCTWPGLPGRSLAPSF LWREPWLGGQWGPLNIPARK GDRRRWEWGCEGGGATASAE QPGPQ in isoform 2. 1 PublicationVSP_043917Add
BLAST
Alternative sequencei1 – 115115Missing in isoform 4. 1 PublicationVSP_046316Add
BLAST
Alternative sequencei417 – 4171S → SQVCMGLWDREPGGGRREGC RQGKGWRRCGDRPELPWP in isoform 2. 1 PublicationVSP_043918
Alternative sequencei464 – 4641D → DVSGVGGLPVTSGGRLPSSL TGLCPQ in isoform 2. 1 PublicationVSP_043919
Alternative sequencei498 – 4981Y → YGRSWLRAGLGDGGGEGRSP AWPSRLTSPQ in isoform 2. 1 PublicationVSP_043920

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L31409 mRNA. Translation: AAC41688.1.
S74039 mRNA. Translation: AAB32284.1.
U17986 mRNA. Translation: AAA86990.1.
EU280316 mRNA. Translation: ABZ82022.1.
AK295495 mRNA. Translation: BAG58415.1.
U52111 Genomic DNA. No translation available.
Z66539 Genomic DNA. Translation: CAA91442.1.
U36341 Genomic DNA. Translation: AAA79507.1.
BC012355 mRNA. Translation: AAH12355.1.
BC081558 mRNA. Translation: AAH81558.1.
CCDSiCCDS14726.1. [P48029-1]
CCDS48190.1. [P48029-4]
PIRiG02095.
JC2386.
RefSeqiNP_001136277.1. NM_001142805.1.
NP_001136278.1. NM_001142806.1. [P48029-4]
NP_005620.1. NM_005629.3. [P48029-1]
UniGeneiHs.540696.

Genome annotation databases

EnsembliENST00000253122; ENSP00000253122; ENSG00000130821. [P48029-1]
ENST00000430077; ENSP00000403041; ENSG00000130821. [P48029-4]
GeneIDi6535.
KEGGihsa:6535.
UCSCiuc011myx.2. human. [P48029-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L31409 mRNA. Translation: AAC41688.1.
S74039 mRNA. Translation: AAB32284.1.
U17986 mRNA. Translation: AAA86990.1.
EU280316 mRNA. Translation: ABZ82022.1.
AK295495 mRNA. Translation: BAG58415.1.
U52111 Genomic DNA. No translation available.
Z66539 Genomic DNA. Translation: CAA91442.1.
U36341 Genomic DNA. Translation: AAA79507.1.
BC012355 mRNA. Translation: AAH12355.1.
BC081558 mRNA. Translation: AAH81558.1.
CCDSiCCDS14726.1. [P48029-1]
CCDS48190.1. [P48029-4]
PIRiG02095.
JC2386.
RefSeqiNP_001136277.1. NM_001142805.1.
NP_001136278.1. NM_001142806.1. [P48029-4]
NP_005620.1. NM_005629.3. [P48029-1]
UniGeneiHs.540696.

3D structure databases

ProteinModelPortaliP48029.
SMRiP48029. Positions 52-597.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112426. 10 interactions.
IntActiP48029. 4 interactions.
STRINGi9606.ENSP00000253122.

Chemistry

DrugBankiDB00148. Creatine.

Protein family/group databases

TCDBi2.A.22.3.11. the neurotransmitter:sodium symporter (nss) family.

PTM databases

iPTMnetiP48029.
PhosphoSiteiP48029.
SwissPalmiP48029.

Polymorphism and mutation databases

BioMutaiSLC6A8.
DMDMi1352529.

Proteomic databases

EPDiP48029.
PaxDbiP48029.
PeptideAtlasiP48029.
PRIDEiP48029.

Protocols and materials databases

DNASUi6535.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253122; ENSP00000253122; ENSG00000130821. [P48029-1]
ENST00000430077; ENSP00000403041; ENSG00000130821. [P48029-4]
GeneIDi6535.
KEGGihsa:6535.
UCSCiuc011myx.2. human. [P48029-1]

Organism-specific databases

CTDi6535.
GeneCardsiSLC6A8.
GeneReviewsiSLC6A8.
H-InvDBHIX0038627.
HGNCiHGNC:11055. SLC6A8.
HPAiCAB004399.
MalaCardsiSLC6A8.
MIMi300036. gene.
300352. phenotype.
neXtProtiNX_P48029.
Orphaneti52503. X-linked creatine transporter deficiency.
PharmGKBiPA35915.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000118857.
HOGENOMiHOG000203877.
HOVERGENiHBG071421.
InParanoidiP48029.
KOiK05039.
OMAiVPPRETW.
OrthoDBiEOG091G08PX.
PhylomeDBiP48029.
TreeFamiTF343812.

Enzyme and pathway databases

ReactomeiR-HSA-71288. Creatine metabolism.

Miscellaneous databases

GeneWikiiSLC6A8.
GenomeRNAii6535.
PROiP48029.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130821.
CleanExiHS_SLC6A8.
ExpressionAtlasiP48029. baseline and differential.
GenevisibleiP48029. HS.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002984. Na/ntran_symport_creatine.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR01199. CRTTRANSPORT.
PR00176. NANEUSMPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSC6A8_HUMAN
AccessioniPrimary (citable) accession number: P48029
Secondary accession number(s): B2KY47
, B4DIA3, E9PFC0, Q13032, Q66I36
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 7, 2016
This is version 157 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.