Seroatlas · Human Serome Atlas

SLC5A6

Sodium-dependent multivitamin transporter

Also known as: SC5A6_HUMAN, SMVT

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

Protein identityUniProt · HPA

UniProt accession
Q9Y289
Gene
SLC5A6
Ensembl
ENSG00000138074
Chromosome
2
Canonical length
635 aa
Protein class
Disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

Enables biotin transmembrane transporter activity; iodide transmembrane transporter activity; and pantothenate transmembrane transporter activity. Involved in iodide transmembrane transport; transport across blood-brain barrier; and vitamin transmembrane transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

635 residues, UniProt reviewed canonical sequence.

>Q9Y289|SLC5A6
     1  MSVGVSTSAP LSPTSGTSVG MSTFSIMDYV VFVLLLVLSL AIGLYHACRG WGRHTVGELL
    61  MADRKMGCLP VALSLLATFQ SAVAILGVPS EIYRFGTQYW FLGCCYFLGL LIPAHIFIPV
   121  FYRLHLTSAY EYLELRFNKT VRVCGTVTFI FQMVIYMGVV LYAPSLALNA VTGFDLWLSV
   181  LALGIVCTVY TALGGLKAVI WTDVFQTLVM FLGQLAVIIV GSAKVGGLGR VWAVASQHGR
   241  ISGFELDPDP FVRHTFWTLA FGGVFMMLSL YGVNQAQVQR YLSSRTEKAA VLSCYAVFPF
   301  QQVSLCVGCL IGLVMFAYYQ EYPMSIQQAQ AAPDQFVLYF VMDLLKGLPG LPGLFIACLF
   361  SGSLSTISSA FNSLATVTME DLIRPWFPEF SEARAIMLSR GLAFGYGLLC LGMAYISSQM
   421  GPVLQAAISI FGMVGGPLLG LFCLGMFFPC ANPPGAVVGL LAGLVMAFWI GIGSIVTSMG
   481  SSMPPSPSNG SSFSLPTNLT VATVTTLMPL TTFSKPTGLQ RFYSLSYLWY SAHNSTTVIV
   541  VGLIVSLLTG RMRGRSLNPA TIYPVLPKLL SLLPLSCQKR LHCRSYGQDH LDTGLFPEKP
   601  RNGVLGDSRD KEAMALDGTA YQGSSSTCIL QETSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC5A6 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
13
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
96 nTPM

Expression across tissuesHPA

Tissue

  • liver: 96 nTPM
  • epididymis: 64 nTPM
  • choroid plexus: 44 nTPM
  • adipose tissue: 40 nTPM
  • placenta: 37 nTPM
  • breast: 29 nTPM

Single-cell type

  • syncytiotrophoblasts: 302 nCPM
  • migrating cytotrophoblasts: 173 nCPM
  • cytotrophoblasts: 134 nCPM
  • extravillous trophoblasts: 122 nCPM
  • epididymal principal cells: 105 nCPM
  • breast secretory cells: 78 nCPM

Immune cell

  • non-classical monocyte: 9.2 nTPM
  • plasmacytoid DC: 9.1 nTPM
  • MAIT T-cell: 9 nTPM
  • myeloid DC: 8.9 nTPM
  • naive CD8 T-cell: 8.7 nTPM
  • T-reg: 7.7 nTPM

Brain region

  • choroid plexus: 73 nTPM
  • thalamus: 41 nTPM
  • cerebral cortex: 39 nTPM
  • amygdala: 33 nTPM
  • pons: 30 nTPM
  • basal ganglia: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC5A6.

Disease | AllUniProt

Conditions SLC5A6 is implicated in, by any mechanism.

  • Sodium-dependent multivitamin transporter deficiency (SMVTD) MIM:618973
  • Peripheral motor neuropathy, childhood-onset, biotin-responsive (COMNB) MIM:619903

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 139 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)
0.53
gnomAD pLI
0.01
gnomAD missense Z
1.63
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 SLC5A6 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 SLC5A6 as an antibody target. Whether an autoantibody or antibody against SLC5A6 could matter depends on whether native SLC5A6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC5A6 is annotated at the cell surface, where native SLC5A6 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 SLC5A6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC5A6. 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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