Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 181 (18 Sep 2019)
Sequence version 1 (01 Feb 1996)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Sodium- and chloride-dependent creatine transporter 1

Gene

SLC6A8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for the uptake of creatine in muscles and brain.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71288 Creatine metabolism

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC6A8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11055 SLC6A8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300036 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48029

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 60CytoplasmicSequence analysisAdd BLAST60
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 87ExtracellularSequence analysis6
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109 – 138CytoplasmicSequence analysisAdd BLAST30
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Topological domaini160 – 230ExtracellularSequence analysisAdd BLAST71
Transmembranei231 – 251HelicalSequence analysisAdd BLAST21
Topological domaini252 – 269CytoplasmicSequence analysisAdd BLAST18
Transmembranei270 – 290HelicalSequence analysisAdd BLAST21
Topological domaini291 – 304ExtracellularSequence analysisAdd BLAST14
Transmembranei305 – 325HelicalSequence analysisAdd BLAST21
Topological domaini326 – 341CytoplasmicSequence analysisAdd BLAST16
Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
Topological domaini363 – 394ExtracellularSequence analysisAdd BLAST32
Transmembranei395 – 415HelicalSequence analysisAdd BLAST21
Topological domaini416 – 444CytoplasmicSequence analysisAdd BLAST29
Transmembranei445 – 465HelicalSequence analysisAdd BLAST21
Topological domaini466 – 479ExtracellularSequence analysisAdd BLAST14
Transmembranei480 – 500HelicalSequence analysisAdd BLAST21
Topological domaini501 – 520CytoplasmicSequence analysisAdd BLAST20
Transmembranei521 – 541HelicalSequence analysisAdd BLAST21
Topological domaini542 – 560ExtracellularSequence analysisAdd BLAST19
Transmembranei561 – 581HelicalSequence analysisAdd BLAST21
Topological domaini582 – 635CytoplasmicSequence analysisAdd BLAST54

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebral creatine deficiency syndrome 1 (CCDS1)9 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07179180Y → H in CCDS1. 1 Publication1
Natural variantiVAR_02052587G → R in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs122453115EnsemblClinVar.1
Natural variantiVAR_075564107Missing in CCDS1; decreased creatine transporter activity. 1 Publication1
Natural variantiVAR_063707132G → V in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453117EnsemblClinVar.1
Natural variantiVAR_070563336Missing in CCDS1; decreased creatine transporter activity. 3 Publications1
Natural variantiVAR_063708337C → W in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs122453116EnsemblClinVar.1
Natural variantiVAR_075565347Missing in CCDS1; decreased creatine transporter activity. 1 Publication1
Natural variantiVAR_020526381G → R in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453114EnsemblClinVar.1
Natural variantiVAR_071792383G → C in CCDS1. 1 Publication1
Natural variantiVAR_020527390P → L in CCDS1; decreased creatine transporter activity. 2 Publications1
Natural variantiVAR_075566391R → W in CCDS1; decreased creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1557045267EnsemblClinVar.1
Natural variantiVAR_020528408Missing in CCDS1. 1 Publication1
Natural variantiVAR_071793448A → D in CCDS1. 1 Publication1
Natural variantiVAR_063709491C → W in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453118EnsemblClinVar.1
Natural variantiVAR_071794539V → I in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs782354054Ensembl.1
Natural variantiVAR_074268552V → L in CCDS1; unknown pathological significance; 35.0% of wild type creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs372567920Ensembl.1
Natural variantiVAR_020529554P → L in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs397515559EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6535

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC6A8

MalaCards human disease database

More...
MalaCardsi
SLC6A8
MIMi300352 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130821

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
52503 X-linked creatine transporter deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35915

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00148 Creatine
DB13191 Phosphocreatine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC6A8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1352529

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002147741 – 635Sodium- and chloride-dependent creatine transporter 1Add BLAST635

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei42PhosphothreonineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi197N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi548N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei617PhosphothreonineCombined sources1
Modified residuei620PhosphothreonineCombined sources1
Modified residuei623PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P48029

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P48029

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P48029

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P48029

PeptideAtlas

More...
PeptideAtlasi
P48029

PRoteomics IDEntifications database

More...
PRIDEi
P48029

ProteomicsDB human proteome resource

More...
ProteomicsDBi
20071
55833 [P48029-1]
55834 [P48029-2]
55835 [P48029-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48029

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P48029

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P48029

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130821 Expressed in 226 organ(s), highest expression level in inferior olivary complex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P48029 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P48029 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112426, 13 interactors

Protein interaction database and analysis system

More...
IntActi
P48029, 13 interactors

Molecular INTeraction database

More...
MINTi
P48029

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000253122

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P48029

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155869

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000203877

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P48029

KEGG Orthology (KO)

More...
KOi
K05041

Identification of Orthologs from Complete Genome Data

More...
OMAi
SFWECIV

Database of Orthologous Groups

More...
OrthoDBi
250396at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P48029

TreeFam database of animal gene trees

More...
TreeFami
TF343812

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000175 Na/ntran_symport
IPR002984 Na/ntran_symport_creatine
IPR037272 SNS_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11616 PTHR11616, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00209 SNF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01199 CRTTRANSPORT
PR00176 NANEUSMPORT

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF161070 SSF161070, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C1I2H7C1I2_HUMAN
Sodium- and chloride-dependent crea...
SLC6A8
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C222H7C222_HUMAN
Sodium- and chloride-dependent crea...
SLC6A8
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C249H7C249_HUMAN
Sodium- and chloride-dependent crea...
SLC6A8
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0F5H7C0F5_HUMAN
Sodium- and chloride-dependent crea...
SLC6A8
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti24 – 25AP → VS in AAB32284 (PubMed:7945388).Curated2
Sequence conflicti32A → S in AAB32284 (PubMed:7945388).Curated1
Sequence conflicti38V → A in AAB32284 (PubMed:7945388).Curated1
Sequence conflicti42 – 45TPGG → APSS in AAB32284 (PubMed:7945388).Curated4
Sequence conflicti136A → G in BAG58415 (PubMed:14702039).Curated1
Sequence conflicti193A → D in AAB32284 (PubMed:7945388).Curated1
Sequence conflicti223G → T in AAB32284 (PubMed:7945388).Curated1
Sequence conflicti285A → P in AAC41688 (PubMed:7953292).Curated1
Sequence conflicti368A → T in AAB32284 (PubMed:7945388).Curated1
Sequence conflicti434P → R in AAH81558 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0755624K → R Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1190261367Ensembl.1
Natural variantiVAR_07556326G → R Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1233444890Ensembl.1
Natural variantiVAR_07179180Y → H in CCDS1. 1 Publication1
Natural variantiVAR_02052587G → R in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs122453115EnsemblClinVar.1
Natural variantiVAR_075564107Missing in CCDS1; decreased creatine transporter activity. 1 Publication1
Natural variantiVAR_063707132G → V in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453117EnsemblClinVar.1
Natural variantiVAR_034483164T → S. Corresponds to variant dbSNP:rs642454Ensembl.1
Natural variantiVAR_074262186R → H Polymorphism; 82.0% of wild type creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs372601430EnsemblClinVar.1
Natural variantiVAR_074263270V → M Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs146985734Ensembl.1
Natural variantiVAR_074264294K → Q Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs376937460Ensembl.1
Natural variantiVAR_074265314F → L Polymorphism; 65.0% of wild type creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs144678921Ensembl.1
Natural variantiVAR_074266318A → T Polymorphism; 78.0% of wild type creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs373953317Ensembl.1
Natural variantiVAR_070563336Missing in CCDS1; decreased creatine transporter activity. 3 Publications1
Natural variantiVAR_063708337C → W in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs122453116EnsemblClinVar.1
Natural variantiVAR_075565347Missing in CCDS1; decreased creatine transporter activity. 1 Publication1
Natural variantiVAR_020526381G → R in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453114EnsemblClinVar.1
Natural variantiVAR_071792383G → C in CCDS1. 1 Publication1
Natural variantiVAR_020527390P → L in CCDS1; decreased creatine transporter activity. 2 Publications1
Natural variantiVAR_075566391R → W in CCDS1; decreased creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1557045267EnsemblClinVar.1
Natural variantiVAR_020528408Missing in CCDS1. 1 Publication1
Natural variantiVAR_071793448A → D in CCDS1. 1 Publication1
Natural variantiVAR_063709491C → W in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs122453118EnsemblClinVar.1
Natural variantiVAR_071794539V → I in CCDS1. 1 PublicationCorresponds to variant dbSNP:rs782354054Ensembl.1
Natural variantiVAR_074267550T → S2 PublicationsCorresponds to variant dbSNP:rs199635059EnsemblClinVar.1
Natural variantiVAR_074268552V → L in CCDS1; unknown pathological significance; 35.0% of wild type creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs372567920Ensembl.1
Natural variantiVAR_020529554P → L in CCDS1; decreased creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs397515559EnsemblClinVar.1
Natural variantiVAR_063710560M → V Polymorphism; no effect on creatine transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs145438966EnsemblClinVar.1
Natural variantiVAR_074269564F → L Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs201044530EnsemblClinVar.1
Natural variantiVAR_074270611A → T Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs146949376EnsemblClinVar.1
Natural variantiVAR_074271624E → K Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs368555229Ensembl.1
Natural variantiVAR_075567629V → I Polymorphism; no effect on creatine transporter activity. 1 PublicationCorresponds to variant dbSNP:rs781899045Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0439161 – 365Missing in isoform 3. 1 PublicationAdd BLAST365
Alternative sequenceiVSP_0439171 – 259MAKKS…KSTGK → MLPTLQIQGPAAFAPGDRGP GRHCPFPVPITPTGALLPVS DSCDSLVDLVWPSVTYLALG TQSRVWPHPLGAPGQAGESP EQRRQCLELWDMASSLGDKV PRAACGKRGQTVWQLHLACL CLAQFHSPPAQPPPLSRRGG GPDPDPISRSLPGPPTPALP THSYSSHSPRAPRLLSPLRR APRGSPAPHRHASLQTNEAP RELPHCTWPGLPGRSLAPSF LWREPWLGGQWGPLNIPARK GDRRRWEWGCEGGGATASAE QPGPQ in isoform 2. 1 PublicationAdd BLAST259
Alternative sequenceiVSP_0463161 – 115Missing in isoform 4. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_043918417S → SQVCMGLWDREPGGGRREGC RQGKGWRRCGDRPELPWP in isoform 2. 1 Publication1
Alternative sequenceiVSP_043919464D → DVSGVGGLPVTSGGRLPSSL TGLCPQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_043920498Y → YGRSWLRAGLGDGGGEGRSP AWPSRLTSPQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14726.1 [P48029-1]
CCDS48190.1 [P48029-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
G02095
JC2386

NCBI Reference Sequences

More...
RefSeqi
NP_001136277.1, NM_001142805.1
NP_001136278.1, NM_001142806.1 [P48029-4]
NP_005620.1, NM_005629.3 [P48029-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000253122; ENSP00000253122; ENSG00000130821 [P48029-1]
ENST00000430077; ENSP00000403041; ENSG00000130821 [P48029-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6535

UCSC genome browser

More...
UCSCi
uc011myx.2 human [P48029-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiP48029
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112426, 13 interactors
IntActiP48029, 13 interactors
MINTiP48029
STRINGi9606.ENSP00000253122

Chemistry databases

DrugBankiDB00148 Creatine
DB13191 Phosphocreatine

Protein family/group databases

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

PTM databases

iPTMnetiP48029
PhosphoSitePlusiP48029
SwissPalmiP48029

Polymorphism and mutation databases

BioMutaiSLC6A8
DMDMi1352529

Proteomic databases

EPDiP48029
jPOSTiP48029
MassIVEiP48029
PaxDbiP48029
PeptideAtlasiP48029
PRIDEiP48029
ProteomicsDBi20071
55833 [P48029-1]
55834 [P48029-2]
55835 [P48029-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6535
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

Comparative Toxicogenomics Database

More...
CTDi
6535
DisGeNETi6535

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC6A8
GeneReviewsiSLC6A8
HGNCiHGNC:11055 SLC6A8
MalaCardsiSLC6A8
MIMi300036 gene
300352 phenotype
neXtProtiNX_P48029
OpenTargetsiENSG00000130821
Orphaneti52503 X-linked creatine transporter deficiency
PharmGKBiPA35915

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000155869
HOGENOMiHOG000203877
InParanoidiP48029
KOiK05041
OMAiSFWECIV
OrthoDBi250396at2759
PhylomeDBiP48029
TreeFamiTF343812

Enzyme and pathway databases

ReactomeiR-HSA-71288 Creatine metabolism

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SLC6A8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6535

Pharos

More...
Pharosi
P48029

Protein Ontology

More...
PROi
PR:P48029

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130821 Expressed in 226 organ(s), highest expression level in inferior olivary complex
ExpressionAtlasiP48029 baseline and differential
GenevisibleiP48029 HS

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002984 Na/ntran_symport_creatine
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR01199 CRTTRANSPORT
PR00176 NANEUSMPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSC6A8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48029
Secondary accession number(s): B2KY47
, B4DIA3, E9PFC0, Q13032, Q66I36
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 18, 2019
This is version 181 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again