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SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]

Gene ID: 6535, updated on 1-Jun-2020

Summary

Official Symbol
SLC6A8provided by HGNC
Official Full Name
solute carrier family 6 member 8provided by HGNC
Primary source
HGNC:HGNC:11055
See related
Ensembl:ENSG00000130821 MIM:300036
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRT; CT1; CRTR; CTR5; CCDS1
Summary
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression
Broad expression in small intestine (RPKM 30.0), heart (RPKM 29.5) and 21 other tissues See more
Orthologs

Genomic context

See SLC6A8 in Genome Data Viewer
Location:
Xq28
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153687926..153696593)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152953752..152962048)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 687, pseudogene Neighboring gene pregnancy up-regulated nonubiquitous CaM kinase Neighboring gene B cell receptor associated protein 31 Neighboring gene ATP binding cassette subfamily D member 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Creatine transporter deficiency
MedGen: C1845862 OMIM: 300352 GeneReviews: Creatine Deficiency Syndromes
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87396

Gene Ontology Provided by GOA

Function Evidence Code Pubs
creatine transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
creatine:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
neurotransmitter binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
creatine metabolic process TAS
Traceable Author Statement
more info
 
creatine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
creatine transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
gamma-aminobutyric acid transport IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium- and chloride-dependent creatine transporter 1
Names
creatine transporter 1
creatine transporter SLC6A8 variant D
solute carrier family 6 (neurotransmitter transporter), member 8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012016.2 RefSeqGene

    Range
    4630..13292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142805.2NP_001136277.1  sodium- and chloride-dependent creatine transporter 1 isoform 2

    See identical proteins and their annotated locations for NP_001136277.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks a 10-aa segment but has the same N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AB209704, BC081558, BE207407, CX788315, L31409, U52111
    UniProtKB/Swiss-Prot
    P48029
    UniProtKB/TrEMBL
    Q59EV7
    Conserved Domains (1) summary
    cl00456
    Location:52611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_001142806.1NP_001136278.1  sodium- and chloride-dependent creatine transporter 1 isoform 3

    See identical proteins and their annotated locations for NP_001136278.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK295495, BC012355, BE207407, CA424985, CX788315, U52111
    Consensus CDS
    CCDS48190.1
    UniProtKB/Swiss-Prot
    P48029
    Related
    ENSP00000403041.2, ENST00000430077.6
    Conserved Domains (1) summary
    cl00456
    Location:1506
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_005629.4NP_005620.1  sodium- and chloride-dependent creatine transporter 1 isoform 1

    See identical proteins and their annotated locations for NP_005620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC081558, BE207407, CX788315, L31409, U52111
    Consensus CDS
    CCDS14726.1
    UniProtKB/Swiss-Prot
    P48029
    UniProtKB/TrEMBL
    X5D9C4
    Related
    ENSP00000253122.5, ENST00000253122.10
    Conserved Domains (1) summary
    cd11509
    Location:52621
    SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    153687926..153696593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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