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

Gene ID: 6535, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:11055
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; CRT1; CRTR; CTR5; CCDS1; CRT-1
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
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Genomic context

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See SLC6A8 in Genome Data Viewer
Location:
Xq28
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153687926..153696593)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151961591..151970260)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152953381..152962048)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152932733-152933234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152933235-152933734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21068 Neighboring gene RNA, 7SL, cytoplasmic 687, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152936222-152936477 Neighboring gene pregnancy up-regulated nonubiquitous CaM kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152972381-152972881 Neighboring gene B cell receptor associated protein 31 Neighboring gene Sharpr-MPRA regulatory region 5891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:152990931-152991752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30039 Neighboring gene ATP binding cassette subfamily D member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152998767-152999458 Neighboring gene uncharacterized LOC124905226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153005935-153006435

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. van de Kamp JM, et al. J Med Genet, 2013 Jul. PMID 23644449
  2. Creatine transporter deficiency in two adult patients with static encephalopathy. Sempere A, et al. J Inherit Metab Dis, 2009 Dec. PMID 19319661
  3. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. Braissant O, et al. Neurobiol Dis, 2010 Feb. PMID 19879361
  4. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. van de Kamp JM, et al. Clin Genet, 2011 Mar. PMID 20528887
  5. Creatine transporter deficiency in two half-brothers. Ardon O, et al. Am J Med Genet A, 2010 Aug. PMID 20602486

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Upregulation and epigenetic modification of the creatine transporter SLC6A8 in non-small cell lung cancer.
    Title: Upregulation and epigenetic modification of the creatine transporter SLC6A8 in non-small cell lung cancer.
  2. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Title: ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
  3. Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
    Title: Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
  4. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
    Title: Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
  5. X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
    Title: X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
  6. Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
    Title: Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
  7. SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress.
    Title: SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress.
  8. SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells.
    Title: SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells.
  9. Oxidative phosphorylation in creatine transporter deficiency.
    Title: Oxidative phosphorylation in creatine transporter deficiency.
  10. Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function.
    Title: Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function.
Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Creatine transporter deficiency
MedGen: C1845862 OMIM: 300352 GeneReviews: Creatine Deficiency Disorders
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-11-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC87396

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables creatine transmembrane transporter activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables creatine:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables creatine:sodium symporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables creatine:sodium symporter activity TAS
Traceable Author Statement
more info
  
enables gamma-aminobutyric acid:sodium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in creatine metabolic process TAS
Traceable Author Statement
more info
  
involved_in creatine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in creatine transmembrane transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in gamma-aminobutyric acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of nitrogen compound transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001142805.2 → NP_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/TrEMBL
    X5D2U0
    Conserved Domains (1) summary
    cl00456
    Location:52 → 611
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. NM_001142806.1 → NP_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/TrEMBL
    A0AAG2SYR1
    Related
    ENSP00000403041.2, ENST00000430077.6
    Conserved Domains (1) summary
    cl00456
    Location:1 → 506
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. NM_005629.4 → NP_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
    B2KY47, B4DIA3, E9PFC0, P48029, Q13032, Q66I36
    UniProtKB/TrEMBL
    X5D2U0, X5D9C4
    Related
    ENSP00000253122.5, ENST00000253122.10
    Conserved Domains (1) summary
    cd11509
    Location:52 → 621
    SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151961591..151970260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48029.1 GenPept UniProtKB/Swiss-Prot:P48029

Gene LinkOut

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