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

    Gene ID: 6535, updated on 26-Jun-2015
    Official Symbol
    SLC6A8provided by HGNC
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter), member 8provided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    See SLC6A8 in Epigenomics, MapViewer
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen Genome Curation PagePubMed
    • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
      Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
    • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
      Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
    • Bacterial chemotaxis, organism-specific biosystem (from KEGG)
      Bacterial chemotaxis, organism-specific biosystemChemotaxis is the process by which cells sense chemical gradients in their environment and then move towards more favorable conditions. In chemotaxis, events at the receptors control autophosphorylat...
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    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
    creatine transporter SLC6A8 variant D
    solute carrier family 6 (neurotransmitter transporter, creatine), member 8
    solute carrier family 6 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 RefSeqGene

      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 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, CA424985, 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
      Conserved Domains (1) summary
      cl00456
      Location:1506
      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 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, 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
      SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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