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P48029

- SC6A8_HUMAN

UniProt

P48029 - SC6A8_HUMAN

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Protein

Sodium- and chloride-dependent creatine transporter 1

Gene

SLC6A8

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. creatine:sodium symporter activity Source: ProtInc
  2. creatine transmembrane transporter activity Source: UniProtKB
  3. neurotransmitter:sodium symporter activity Source: InterPro

GO - Biological processi

  1. cellular nitrogen compound metabolic process Source: Reactome
  2. creatine metabolic process Source: Reactome
  3. creatine transmembrane transport Source: GOC
  4. creatine transport Source: UniProtKB
  5. muscle contraction Source: ProtInc
  6. small molecule metabolic process Source: Reactome
  7. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_813. 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
ProteomesiUP000005640: 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

  1. integral component of membrane Source: ProtInc
  2. integral component of plasma membrane Source: InterPro
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801Y → H in CCDS1. 1 Publication
VAR_071791
Natural varianti87 – 871G → R in CCDS1. 1 Publication
VAR_020525
Natural varianti132 – 1321G → V in CCDS1. 1 Publication
VAR_063707
Natural varianti337 – 3371C → W in CCDS1. 1 Publication
VAR_063708
Natural varianti381 – 3811G → R in CCDS1. 1 Publication
VAR_020526
Natural varianti383 – 3831G → C in CCDS1. 1 Publication
VAR_071792
Natural varianti390 – 3901P → L in CCDS1. 1 Publication
VAR_020527
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
VAR_063709
Natural varianti539 – 5391V → I in CCDS1. 1 Publication
VAR_071794
Natural varianti554 – 5541P → L in CCDS1. 1 Publication
VAR_020529

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

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

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 – 421Phosphothreonine1 Publication
Glycosylationi192 – 1921N-linked (GlcNAc...)Sequence Analysis
Glycosylationi197 – 1971N-linked (GlcNAc...)Sequence Analysis
Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP48029.
PaxDbiP48029.
PRIDEiP48029.

PTM databases

PhosphoSiteiP48029.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP48029.
CleanExiHS_SLC6A8.
ExpressionAtlasiP48029. baseline and differential.
GenevestigatoriP48029.

Organism-specific databases

HPAiHPA008802.

Interactioni

Protein-protein interaction databases

BioGridi112426. 3 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

eggNOGiCOG0733.
GeneTreeiENSGT00760000118857.
HOVERGENiHBG071421.
InParanoidiP48029.
KOiK05039.
OMAiIVFYCNT.
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. Align

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 varianti80 – 801Y → H in CCDS1. 1 Publication
VAR_071791
Natural varianti87 – 871G → R in CCDS1. 1 Publication
VAR_020525
Natural varianti132 – 1321G → V in CCDS1. 1 Publication
VAR_063707
Natural varianti164 – 1641T → S.
Corresponds to variant rs642454 [ dbSNP | Ensembl ].
VAR_034483
Natural varianti336 – 3361Missing.1 Publication
VAR_070563
Natural varianti337 – 3371C → W in CCDS1. 1 Publication
VAR_063708
Natural varianti381 – 3811G → R in CCDS1. 1 Publication
VAR_020526
Natural varianti383 – 3831G → C in CCDS1. 1 Publication
VAR_071792
Natural varianti390 – 3901P → L in CCDS1. 1 Publication
VAR_020527
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
VAR_063709
Natural varianti539 – 5391V → I in CCDS1. 1 Publication
VAR_071794
Natural varianti554 – 5541P → L in CCDS1. 1 Publication
VAR_020529
Natural varianti560 – 5601M → V.1 Publication
VAR_063710

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.
UCSCiuc004fib.3. human. [P48029-1]

Polymorphism databases

DMDMi1352529.

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 .
CCDSi CCDS14726.1. [P48029-1 ]
CCDS48190.1. [P48029-4 ]
PIRi G02095.
JC2386.
RefSeqi NP_001136277.1. NM_001142805.1.
NP_001136278.1. NM_001142806.1. [P48029-4 ]
NP_005620.1. NM_005629.3. [P48029-1 ]
UniGenei Hs.540696.

3D structure databases

ProteinModelPortali P48029.
SMRi P48029. Positions 52-597.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112426. 3 interactions.
STRINGi 9606.ENSP00000253122.

Chemistry

DrugBanki DB00148. Creatine.

Protein family/group databases

TCDBi 2.A.22.3.11. the neurotransmitter:sodium symporter (nss) family.

PTM databases

PhosphoSitei P48029.

Polymorphism databases

DMDMi 1352529.

Proteomic databases

MaxQBi P48029.
PaxDbi P48029.
PRIDEi P48029.

Protocols and materials databases

DNASUi 6535.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000253122 ; ENSP00000253122 ; ENSG00000130821 . [P48029-1 ]
ENST00000430077 ; ENSP00000403041 ; ENSG00000130821 . [P48029-4 ]
GeneIDi 6535.
KEGGi hsa:6535.
UCSCi uc004fib.3. human. [P48029-1 ]

Organism-specific databases

CTDi 6535.
GeneCardsi GC0XP152953.
GeneReviewsi SLC6A8.
H-InvDB HIX0038627.
HGNCi HGNC:11055. SLC6A8.
HPAi HPA008802.
MIMi 300036. gene.
300352. phenotype.
neXtProti NX_P48029.
Orphaneti 52503. X-linked creatine transporter deficiency.
PharmGKBi PA35915.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0733.
GeneTreei ENSGT00760000118857.
HOVERGENi HBG071421.
InParanoidi P48029.
KOi K05039.
OMAi IVFYCNT.
PhylomeDBi P48029.
TreeFami TF343812.

Enzyme and pathway databases

Reactomei REACT_813. Creatine metabolism.

Miscellaneous databases

GeneWikii SLC6A8.
GenomeRNAii 6535.
NextBioi 25427.
PROi P48029.
SOURCEi Search...

Gene expression databases

Bgeei P48029.
CleanExi HS_SLC6A8.
ExpressionAtlasi P48029. baseline and differential.
Genevestigatori P48029.

Family and domain databases

InterProi IPR000175. Na/ntran_symport.
IPR002984. Na/ntran_symport_creatine.
[Graphical view ]
PANTHERi PTHR11616. PTHR11616. 1 hit.
Pfami PF00209. SNF. 1 hit.
[Graphical view ]
PRINTSi PR01199. CRTTRANSPORT.
PR00176. NANEUSMPORT.
PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, pharmacological characterization, and genomic localization of the human creatine transporter."
    Nash S.R., Giros B., Kingsmore S.F., Rochelle J.M., Suter S.T., Gregor P., Seldin M.F., Caron M.G.
    Recept. Channels 2:165-174(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Brain.
  3. "The genomic organization of a human creatine transporter (CRTR) gene located in Xq28."
    Sandoval N., Bauer D., Brenner V., Coy J.F., Drescher B., Kioschis P., Korn B., Nyakatura G., Poustka A., Reichwald K., Rosenthal A., Platzer M.
    Genomics 35:383-385(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family."
    Barnwell L.F., Chaudhuri G., Townsel J.G.
    Gene 159:287-288(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Hippocampus.
  5. "Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene."
    Martinez-Munoz C., Rosenberg E.H., Jakobs C., Salomons G.S.
    Gene 418:53-59(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  6. "Genomic organization of the human creatine transporter and CDM genes."
    Eichler E.E., Lu F., Shen Y., Muzny D.M., Gibbs R.A., Nelson D.L.
    Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Hippocampus.
  8. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye and Testis.
  10. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-42, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28."
    Hahn K.A., Salomons G.S., Tackels-Horne D., Wood T.C., Taylor H.A., Schroer R.J., Lubs H.A., Jakobs C., Olson R.L., Holden K.R., Stevenson R.E., Schwartz C.E.
    Am. J. Hum. Genet. 70:1349-1356(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCDS1 ARG-381.
  13. "X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8."
    Bizzi A., Bugiani M., Salomons G.S., Hunneman D.H., Moroni I., Estienne M., Danesi U., Jakobs C., Uziel G.
    Ann. Neurol. 52:227-231(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCDS1 PHE-408 DEL.
  14. Cited for: VARIANTS CCDS1 ARG-87; TRP-337; LEU-390 AND LEU-554, VARIANT VAL-560.
  15. Cited for: VARIANTS CCDS1 VAL-132 AND TRP-491.
  16. Cited for: VARIANT CCDS1 ASN-336 DEL.
  17. "Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes."
    Comeaux M.S., Wang J., Wang G., Kleppe S., Zhang V.W., Schmitt E.S., Craigen W.J., Renaud D., Sun Q., Wong L.J.
    Mol. Genet. Metab. 109:260-268(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CCDS1 HIS-80; CYS-383; ASP-448 AND ILE-539.

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: October 29, 2014
This is version 141 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

External Data

Dasty 3