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

Gene ID: 6535, updated on 7-Aug-2014
Official Symbol
SLC6A8provided by HGNC
Official Full Name
solute carrier family 6 (neurotransmitter transporter), member 8provided by HGNC
Primary source
HGNC:11055
See related
Ensembl:ENSG00000130821; HPRD:02073; MIM:300036; Vega:OTTHUMG00000024208
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]
See SLC6A8 in Epigenomics, MapViewer
Location:
Xq28
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (153688297..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 ribosomal protein L18a pseudogene 16 Neighboring gene pregnancy up-regulated nonubiquitous CaM kinase Neighboring gene B-cell receptor-associated protein 31 Neighboring gene ATP-binding cassette, sub-family D (ALD), member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Creatine deficiency, X-linked
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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
  • Creatine metabolism, organism-specific biosystem (from REACTOME)
    Creatine metabolism, organism-specific biosystemIn humans, creatine is synthesized primarily in the liver and kidney, from glycine, arginine, and S-adenosylmethionine, in a sequence of two reactions. From the liver, creatine is exported to tissues...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC87396

Gene Ontology Provided by GOA

Function Evidence Code Pubs
choline transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
creatine transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
creatine:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
neurotransmitter:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
choline transport IEA
Inferred from Electronic Annotation
more info
 
creatine metabolic process TAS
Traceable Author Statement
more info
 
creatine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
creatine transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
creatine transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
creatine transport NAS
Non-traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
sodium- and chloride-dependent creatine transporter 1
Names
sodium- and chloride-dependent creatine transporter 1
creatine transporter 1
solute carrier family 6 member 8
creatine transporter SLC6A8 variant D
solute carrier family 6 (neurotransmitter transporter, creatine), member 8

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_012016.1 

    Range
    5001..13297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, CA424985, CX788315, L31409, U52111
    UniProtKB/Swiss-Prot
    P48029
    UniProtKB/TrEMBL
    Q59EV7
    Conserved Domains (1) summary
    cl00456
    Location:52611
    Blast Score: 2614
    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 proteins identical to 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
    Conserved Domains (1) summary
    cl00456
    Location:1506
    Blast Score: 2315
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_005629.3NP_005620.1  sodium- and chloride-dependent creatine transporter 1 isoform 1

    See proteins identical to 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, CA424985, CX788315, L31409, U52111
    Consensus CDS
    CCDS14726.1
    UniProtKB/Swiss-Prot
    P48029
    UniProtKB/TrEMBL
    X5D9C4
    Related
    ENSP00000253122, OTTHUMP00000025945, ENST00000253122, OTTHUMT00000061003
    Conserved Domains (1) summary
    cd11509
    Location:52621
    Blast Score: 2684
    SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    153688297..153696593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    141612842..141619133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    152828182..152836459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)