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

Gene ID: 102857, updated on 9-Dec-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
Enables creatine:sodium symporter activity. Predicted to be involved in several processes, including creatine transmembrane transport; protein catabolic process; and sodium ion transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study cerebral creatine deficiency syndrome 1. Human ortholog(s) of this gene implicated in cerebral creatine deficiency syndrome 1 and intellectual disability. Orthologous to human SLC6A8 (solute carrier family 6 member 8). [provided by Alliance of Genome Resources, Dec 2024]
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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See Slc6a8 in Genome Data Viewer
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. The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds. Lunardi G, et al. Neuroscience, 2006 Nov 3. PMID 16949212
  2. Creatine transporter (SLC6A8) knockout mice display an increased capacity for in vitro creatine biosynthesis in skeletal muscle. Russell AP, et al. Front Physiol, 2014. PMID 25206338, Free PMC Article
  3. Creatine as a compatible osmolyte in muscle cells exposed to hypertonic stress. Alfieri RR, et al. J Physiol, 2006 Oct 15. PMID 16873409, Free PMC Article
  4. Creatine transporter deficiency leads to increased whole body and cellular metabolism. Perna MK, et al. Amino Acids, 2016 Aug. PMID 27401086, Free PMC Article
  5. A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. Baroncelli L, et al. Hum Mol Genet, 2016 Oct 1. PMID 27466184

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intestinal Epithelial Creatine Transporter SLC6A8 Dysregulation in Inflammation and in Response to Adherent Invasive E. coli Infection.
    Title: Intestinal Epithelial Creatine Transporter SLC6A8 Dysregulation in Inflammation and in Response to Adherent Invasive E. coli Infection.
  2. 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.
  3. 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.
  4. Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
    Title: Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
  5. Creatine transport and pathological changes in creatine transporter deficient mice.
    Title: Creatine transport and pathological changes in creatine transporter deficient mice.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

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
  
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 
involved_in creatine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
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
  
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
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

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