SLC6A20
Sodium- and chloride-dependent transporter XTRP3
Also known as: IMINO, S6A20_HUMAN, SIT1, XT3, Xtrp3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NP91
- Gene
- SLC6A20
- Ensembl
- ENSG00000163817
- Chromosome
- 3
- Canonical length
- 592 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
Canonical amino-acid sequenceUniProt
592 residues, UniProt reviewed canonical sequence.
>Q9NP91|SLC6A20
1 MEKARPLWAN SLQFVFACIS YAVGLGNVWR FPYLCQMYGG GSFLVPYIIM LIVEGMPLLY
61 LELAVGQRMR QGSIGAWRTI SPYLSGVGVA SVVVSFFLSM YYNVINAWAF WYLFHSFQDP
121 LPWSVCPLNG NHTGYDEECE KASSTQYFWY RKTLNISPSL QENGGVQWEP ALCLLLAWLV
181 VYLCILRGTE STGKVVYFTA SLPYCVLIIY LIRGLTLHGA TNGLMYMFTP KIEQLANPKA
241 WINAATQIFF SLGLGFGSLI AFASYNEPSN NCQKHAIIVS LINSFTSIFA SIVTFSIYGF
301 KATFNYENCL KKVSLLLTNT FDLEDGFLTA SNLEQVKGYL ASAYPSKYSE MFPQIKNCSL
361 ESELDTAVQG TGLAFIVYTE AIKNMEVSQL WSVLYFFMLL MLGIGSMLGN TAAILTPLTD
421 SKIISSHLPK EAISGLVCLV NCAIGMVFTM EAGNYWFDIF NDYAATLSLL LIVLVETIAV
481 CYVYGLRRFE SDLKAMTGRA VSWYWKVMWA GVSPLLIVSL FVFYLSDYIL TGTLKYQAWD
541 ASQGQLVTKD YPAYALAVIG LLVASSTMCI PLAALGTFVQ RRLKRGDADP VALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC6A20 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)
- 0.22
- Highest tissue expression
- 47 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 47 nTPM
- duodenum: 24 nTPM
- small intestine: 18 nTPM
- gallbladder: 6.5 nTPM
- stomach: 4.3 nTPM
- pancreas: 2.8 nTPM
Single-cell type
- retinal pigment epithelial cells: 392 nCPM
- enterocytes: 117 nCPM
- choroid plexus epithelial cells: 87 nCPM
- endometrial secretory cells: 62 nCPM
- foveolar cells: 60 nCPM
- pancreatic duct cells: 54 nCPM
Immune cell
- neutrophil: 0.4 nTPM
- basophil: 0.3 nTPM
- naive B-cell: 0.1 nTPM
- NK-cell: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- classical monocyte: 0 nTPM
Brain region
- choroid plexus: 114 nTPM
- cerebral cortex: 9.7 nTPM
- hippocampal formation: 5.9 nTPM
- cerebellum: 5.4 nTPM
- basal ganglia: 5.3 nTPM
- thalamus: 3.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC6A20.
Disease | AllUniProt
Conditions SLC6A20 is implicated in, by any mechanism.
- Hyperglycinuria (HGLY) MIM:138500
- Iminoglycinuria (IG) MIM:242600
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)
- 1.26
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- amino acid import across plasma membrane
- amino acid transport
- glycine import across plasma membrane
- glycine transport
- L-proline import across plasma membrane
- proline transport
- sodium ion transmembrane transport
- transport across blood-brain barrier
- amino-acid betaine transport
- L-isoleucine import across plasma membrane
- proline import across plasma membrane
Molecular functions
- amino acid transmembrane transporter activity
- amino-acid betaine transmembrane transporter activity
- L-isoleucine transmembrane transporter activity
- L-proline transmembrane transporter activity
- neutral L-amino acid transmembrane transporter activity
- proline:sodium symporter activity
- solute:sodium symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC6A20 as an antibody target. Whether an autoantibody or antibody against SLC6A20 could matter depends on whether native SLC6A20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC6A20 is annotated at the cell surface, where native SLC6A20 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 SLC6A20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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