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P48029

- SC6A8_HUMAN

UniProt

P48029 - SC6A8_HUMAN

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
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    Functioni

    Required for the uptake of creatine in muscles and brain.

    GO - Molecular functioni

    1. choline transmembrane transporter activity Source: Ensembl
    2. creatine:sodium symporter activity Source: ProtInc
    3. creatine transmembrane transporter activity Source: UniProtKB
    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

    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

    GO - Cellular componenti

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

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6060CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini82 – 876ExtracellularSequence Analysis
    Topological domaini109 – 13830CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini160 – 23071ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini252 – 26918CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini291 – 30414ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini326 – 34116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini363 – 39432ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini416 – 44429CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini466 – 47914ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini501 – 52020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini542 – 56019ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini582 – 63554CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei61 – 8121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei88 – 10821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei139 – 15921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei231 – 25121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei270 – 29021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei305 – 32521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei395 – 41521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei445 – 46521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei480 – 50021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei521 – 54121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei561 – 58121HelicalSequence AnalysisAdd
    BLAST

    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

    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 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. 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:
    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]
    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 ]
    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

    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: October 1, 2014
    This is version 140 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