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    Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [ Mus musculus (house mouse) ]

    Gene ID: 102857, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Slc6a8provided by MGI
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter, creatine), member 8provided by MGI
    Primary source
    MGI:MGI:2147834
    See related
    Ensembl:ENSMUSG00000019558 AllianceGenome:MGI:2147834
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CRT; CT1; CRTR; CTR5; Creat
    Summary
    Predicted to enable choline transmembrane transporter activity and creatine:sodium symporter activity. Predicted to be involved in sodium ion transmembrane transport. Predicted to act upstream of or within creatine transmembrane transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study creatine transporter deficiency. Human ortholog(s) of this gene implicated in creatine transporter deficiency and intellectual disability. Orthologous to human SLC6A8 (solute carrier family 6 member 8). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum adult (RPKM 226.8), small intestine adult (RPKM 214.6) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X A7.3; X 37.38 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (72716739..72726108)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (73673133..73682502)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 52444 Neighboring gene pregnancy upregulated non-ubiquitously expressed CaM kinase Neighboring gene STARR-seq mESC enhancer starr_47348 Neighboring gene predicted gene, 32261 Neighboring gene STARR-seq mESC enhancer starr_47349 Neighboring gene B cell receptor associated protein 31 Neighboring gene STARR-positive B cell enhancer ABC_E11048 Neighboring gene ATP-binding cassette, sub-family D member 1 Neighboring gene STARR-seq mESC enhancer starr_47353 Neighboring gene predicted gene, 25226

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis. Chen HR, et al. JCI Insight, 2021 Sep 8. PMID 34324436, Free PMC Article
    2. Creatine transport and pathological changes in creatine transporter deficient mice. Wawro AM, et al. J Inherit Metab Dis, 2021 Jul. PMID 33389772
    3. Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency. Cacciante F, et al. Sci Rep, 2020 Oct 27. PMID 33110151, Free PMC Article
    4. Creatine transporter knockout mice (Slc6a8) show increases in serotonin-related proteins and are resilient to learned helplessness. Abdulla ZI, et al. Behav Brain Res, 2020 Jan 13. PMID 31542396
    5. Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits. Udobi KC, et al. J Inherit Metab Dis, 2019 Sep. PMID 31209903, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8[-/y] mice.
      Title: A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8(-/y) mice.
    2. Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency.
      Title: Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency.
    3. Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
      Title: Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
    4. Creatine transport and pathological changes in creatine transporter deficient mice.
      Title: Creatine transport and pathological changes in creatine transporter deficient mice.
    5. Creatine transporter knockout mice (Slc6a8) show increases in serotonin-related proteins and are resilient to learned helplessness.
      Title: Creatine transporter knockout mice (Slc6a8) show increases in serotonin-related proteins and are resilient to learned helplessness.
    6. 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.
    7. Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
      Title: Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
    8. Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.
      Title: Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.
    9. Results show that the loss of cerebral Cr is responsible for the learning and memory deficits seen in ubiquitous Slc6a8(-/y) mice.
      Title: Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.
    10. There were no changes in mitochondrial respiration when normalized to mitochondrial number, suggesting that the increase in respiration observed could be to higher mitochondrial content in Crt (-/y) mice
      Title: Creatine transporter deficiency leads to increased whole body and cellular metabolism.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (8)  1 citation
    • Endonuclease-mediated (2) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables choline transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables creatine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables creatine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables creatine:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables creatine:sodium symporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables gamma-aminobutyric acid:sodium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in creatine transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within creatine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of nitrogen compound transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synapse ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    mRNA and Protein(s)

    1. NM_001142809.1 → NP_001136281.1  sodium- and chloride-dependent creatine transporter 1 isoform 2

      See identical proteins and their annotated locations for NP_001136281.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 2. The resulting isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AB077327, AF459435, BC029000, CB245363
      Consensus CDS
      CCDS53098.1
      UniProtKB/Swiss-Prot
      A2ALM4, Q80YC9, Q8K4R3, Q8R1L0, Q8VBW1
      UniProtKB/TrEMBL
      A2ALM6, E9Q151
      Related
      ENSMUSP00000110109.3, ENSMUST00000114465.9
      Conserved Domains (1) summary
      cd11509
      Location:52 → 621
      SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

    2. NM_001142810.1 → NP_001136282.1  sodium- and chloride-dependent creatine transporter 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 2. The resulting isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AF459435, BC049801, CB245363
      UniProtKB/TrEMBL
      E9Q151
      Related
      ENSMUSP00000132921.2, ENSMUST00000168831.8
      Conserved Domains (1) summary
      cl00456
      Location:52 → 618
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. NM_133987.2 → NP_598748.1  sodium- and chloride-dependent creatine transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_598748.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF459435, CB245363
      Consensus CDS
      CCDS30208.1
      UniProtKB/TrEMBL
      E9Q151
      Related
      ENSMUSP00000033752.8, ENSMUST00000033752.14
      Conserved Domains (1) summary
      cd11509
      Location:52 → 626
      SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      72716739..72726108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VBW1.2 GenPept UniProtKB/Swiss-Prot:Q8VBW1

    Gene LinkOut

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

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