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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. choline transmembrane transporter activity Source: Ensembl
  2. creatine transmembrane transporter activity Source: UniProtKB
  3. creatine:sodium symporter activity Source: ProtInc
  4. 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 – 6060Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei61 – 8121Helical; Reviewed prediction
Add
BLAST
Topological domaini82 – 876Extracellular Reviewed prediction
Transmembranei88 – 10821Helical; Reviewed prediction
Add
BLAST
Topological domaini109 – 13830Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei139 – 15921Helical; Reviewed prediction
Add
BLAST
Topological domaini160 – 23071Extracellular Reviewed prediction
Add
BLAST
Transmembranei231 – 25121Helical; Reviewed prediction
Add
BLAST
Topological domaini252 – 26918Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei270 – 29021Helical; Reviewed prediction
Add
BLAST
Topological domaini291 – 30414Extracellular Reviewed prediction
Add
BLAST
Transmembranei305 – 32521Helical; Reviewed prediction
Add
BLAST
Topological domaini326 – 34116Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei342 – 36221Helical; Reviewed prediction
Add
BLAST
Topological domaini363 – 39432Extracellular Reviewed prediction
Add
BLAST
Transmembranei395 – 41521Helical; Reviewed prediction
Add
BLAST
Topological domaini416 – 44429Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei445 – 46521Helical; Reviewed prediction
Add
BLAST
Topological domaini466 – 47914Extracellular Reviewed prediction
Add
BLAST
Transmembranei480 – 50021Helical; Reviewed prediction
Add
BLAST
Topological domaini501 – 52020Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei521 – 54121Helical; Reviewed prediction
Add
BLAST
Topological domaini542 – 56019Extracellular Reviewed prediction
Add
BLAST
Transmembranei561 – 58121Helical; Reviewed prediction
Add
BLAST
Topological domaini582 – 63554Cytoplasmic Reviewed prediction
Add
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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 varianti390 – 3901P → L in CCDS1. 1 Publication
VAR_020527
Natural varianti408 – 4081Missing in CCDS1. 1 Publication
VAR_020528
Natural varianti491 – 4911C → W in CCDS1. 1 Publication
VAR_063709
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 1
PRO_0000214774Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei42 – 421Phosphothreonine1 Publication
Glycosylationi192 – 1921N-linked (GlcNAc...) Reviewed prediction
Glycosylationi197 – 1971N-linked (GlcNAc...) Reviewed prediction
Glycosylationi548 – 5481N-linked (GlcNAc...) Reviewed prediction

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

ArrayExpressiP48029.
BgeeiP48029.
CleanExiHS_SLC6A8.
GenevestigatoriP48029.

Organism-specific databases

HPAiHPA008802.

Interactioni

Protein-protein interaction databases

BioGridi112426. 1 interaction.
STRINGi9606.ENSP00000253122.

Structurei

3D structure databases

ProteinModelPortaliP48029.
SMRiP48029. Positions 52-597.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
HOVERGENiHBG071421.
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

MAKKSAENGI YSVSGDEKKG PLIAPGPDGA PAKGDGPVGL GTPGGRLAVP    50
PRETWTRQMD FIMSCVGFAV GLGNVWRFPY LCYKNGGGVF LIPYVLIALV 100
GGIPIFFLEI SLGQFMKAGS INVWNICPLF KGLGYASMVI VFYCNTYYIM 150
VLAWGFYYLV KSFTTTLPWA TCGHTWNTPD CVEIFRHEDC ANASLANLTC 200
DQLADRRSPV IEFWENKVLR LSGGLEVPGA LNWEVTLCLL ACWVLVYFCV 250
WKGVKSTGKI VYFTATFPYV VLVVLLVRGV LLPGALDGII YYLKPDWSKL 300
GSPQVWIDAG TQIFFSYAIG LGALTALGSY NRFNNNCYKD AIILALINSG 350
TSFFAGFVVF SILGFMAAEQ GVHISKVAES GPGLAFIAYP RAVTLMPVAP 400
LWAALFFFML LLLGLDSQFV GVEGFITGLL DLLPASYYFR FQREISVALC 450
CALCFVIDLS MVTDGGMYVF QLFDYYSASG TTLLWQAFWE CVVVAWVYGA 500
DRFMDDIACM IGYRPCPWMK WCWSFFTPLV CMGIFIFNVV YYEPLVYNNT 550
YVYPWWGEAM GWAFALSSML CVPLHLLGCL LRAKGTMAER WQHLTQPIWG 600
LHHLEYRAQD ADVRGLTTLT PVSESSKVVV VESVM 635
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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 varianti390 – 3901P → L in CCDS1. 1 Publication
VAR_020527
Natural varianti408 – 4081Missing in CCDS1. 1 Publication
VAR_020528
Natural varianti491 – 4911C → W in CCDS1. 1 Publication
VAR_063709
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.
VSP_043916Add
BLAST
Alternative sequencei1 – 259259MAKKS…KSTGK → MLPTLQIQGPAAFAPGDRGP GRHCPFPVPITPTGALLPVS DSCDSLVDLVWPSVTYLALG TQSRVWPHPLGAPGQAGESP EQRRQCLELWDMASSLGDKV PRAACGKRGQTVWQLHLACL CLAQFHSPPAQPPPLSRRGG GPDPDPISRSLPGPPTPALP THSYSSHSPRAPRLLSPLRR APRGSPAPHRHASLQTNEAP RELPHCTWPGLPGRSLAPSF LWREPWLGGQWGPLNIPARK GDRRRWEWGCEGGGATASAE QPGPQ in isoform 2.
VSP_043917Add
BLAST
Alternative sequencei1 – 115115Missing in isoform 4.
VSP_046316Add
BLAST
Alternative sequencei417 – 4171S → SQVCMGLWDREPGGGRREGC RQGKGWRRCGDRPELPWP in isoform 2.
VSP_043918
Alternative sequencei464 – 4641D → DVSGVGGLPVTSGGRLPSSL TGLCPQ in isoform 2.
VSP_043919
Alternative sequencei498 – 4981Y → YGRSWLRAGLGDGGGEGRSP AWPSRLTSPQ in isoform 2.
VSP_043920

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 252AP → VS in AAB32284. 1 Publication
Sequence conflicti32 – 321A → S in AAB32284. 1 Publication
Sequence conflicti38 – 381V → A in AAB32284. 1 Publication
Sequence conflicti42 – 454TPGG → APSS in AAB32284. 1 Publication
Sequence conflicti136 – 1361A → G in BAG58415. 1 Publication
Sequence conflicti193 – 1931A → D in AAB32284. 1 Publication
Sequence conflicti223 – 2231G → T in AAB32284. 1 Publication
Sequence conflicti285 – 2851A → P in AAC41688. 1 Publication
Sequence conflicti368 – 3681A → T in AAB32284. 1 Publication
Sequence conflicti434 – 4341P → R in AAH81558. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000597046; ENSP00000470814; ENSG00000268982. [P48029-4]
ENST00000598634; ENSP00000472369; ENSG00000268982. [P48029-1]
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:
EMBL
GenBank
DDBJ
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. 1 interaction.
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 ]
ENST00000597046 ; ENSP00000470814 ; ENSG00000268982 . [P48029-4 ]
ENST00000598634 ; ENSP00000472369 ; ENSG00000268982 . [P48029-1 ]
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.
HOVERGENi HBG071421.
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

ArrayExpressi P48029.
Bgeei P48029.
CleanExi HS_SLC6A8.
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.

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 3, 2014
This is version 139 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

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