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

    Gene ID: 6535, updated on 10-Dec-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
    mouse all
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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

    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 (111) 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
    		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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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