Seroatlas · Human Serome Atlas

SLC6A8

Sodium- and chloride-dependent creatine transporter 1

Also known as: CRT, CRT-1, CRT1, CRTR, CT1, SC6A8_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P48029
Gene
SLC6A8
Ensembl
ENSG00000130821
Chromosome
X
Canonical length
635 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

635 residues, UniProt reviewed canonical sequence.

>P48029|SLC6A8
     1  MAKKSAENGI YSVSGDEKKG PLIAPGPDGA PAKGDGPVGL GTPGGRLAVP PRETWTRQMD
    61  FIMSCVGFAV GLGNVWRFPY LCYKNGGGVF LIPYVLIALV GGIPIFFLEI SLGQFMKAGS
   121  INVWNICPLF KGLGYASMVI VFYCNTYYIM VLAWGFYYLV KSFTTTLPWA TCGHTWNTPD
   181  CVEIFRHEDC ANASLANLTC DQLADRRSPV IEFWENKVLR LSGGLEVPGA LNWEVTLCLL
   241  ACWVLVYFCV WKGVKSTGKI VYFTATFPYV VLVVLLVRGV LLPGALDGII YYLKPDWSKL
   301  GSPQVWIDAG TQIFFSYAIG LGALTALGSY NRFNNNCYKD AIILALINSG TSFFAGFVVF
   361  SILGFMAAEQ GVHISKVAES GPGLAFIAYP RAVTLMPVAP LWAALFFFML LLLGLDSQFV
   421  GVEGFITGLL DLLPASYYFR FQREISVALC CALCFVIDLS MVTDGGMYVF QLFDYYSASG
   481  TTLLWQAFWE CVVVAWVYGA DRFMDDIACM IGYRPCPWMK WCWSFFTPLV CMGIFIFNVV
   541  YYEPLVYNNT YVYPWWGEAM GWAFALSSML CVPLHLLGCL LRAKGTMAER WQHLTQPIWG
   601  LHHLEYRAQD ADVRGLTTLT PVSESSKVVV VESVM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
146 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 146 nTPM
  • heart muscle: 113 nTPM
  • hippocampal formation: 75 nTPM
  • spinal cord: 74 nTPM
  • small intestine: 71 nTPM
  • tongue: 70 nTPM

Single-cell type

  • pancreatic acinar cells: 418 nCPM
  • enterocytes: 230 nCPM
  • colonocytes: 179 nCPM
  • esophageal apical cells: 129 nCPM
  • syncytiotrophoblasts: 125 nCPM
  • retinal bipolar cells: 87 nCPM

Immune cell

  • neutrophil: 0.4 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • white matter: 208 nTPM
  • basal ganglia: 173 nTPM
  • midbrain: 158 nTPM
  • medulla oblongata: 157 nTPM
  • thalamus: 151 nTPM
  • cerebral cortex: 149 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A8.

Disease | AllUniProt

Conditions SLC6A8 is implicated in, by any mechanism.

  • Cerebral creatine deficiency syndrome 1 (CCDS1) MIM:300352

Disease | GeneticClinVar

194 pathogenic / likely-pathogenic of 1,269 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.21
gnomAD pLI
1
gnomAD missense Z
3.05
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC6A8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC6A8 as an antibody target. Whether an autoantibody or antibody against SLC6A8 could matter depends on whether native SLC6A8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A8 is annotated at the cell surface, where native SLC6A8 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC6A8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A8. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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