U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 6535, updated on 4-Feb-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC6A8 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153687926..153696593)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151961591..151970260)
    105.20220307 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

    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 Disorders
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC87396

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      X5D2U0
      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/TrEMBL
      X5D2U0
      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
      B2KY47, B4DIA3, E9PFC0, P48029, Q13032, Q66I36
      UniProtKB/TrEMBL
      X5D2U0, 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: GCF_000001405.40-RS_2023_10

    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)