Seroatlas · Human Serome Atlas

SLC4A11

Solute carrier family 4 member 11

Also known as: BTR1, CDPD1, CHED2, dJ794I6.2, FECD4, NaBC1, S4A11_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NBS3
Gene: SLC4A11
Ensembl: ENSG00000088836
Chromosome: 20
Canonical length: 875 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

875 residues, UniProt reviewed canonical sequence.

>Q8NBS3|SLC4A11
     1  MAAATRRVFH LQPCENSPTM SQNGYFEDSS YYKCDTDDTF EAREEILGDE AFDTANSSIV
    61  SGESIRFFVN VNLEMQATNT ENEATSGGCV LLHTSRKYLK LKNFKEEIRA HRDLDGFLAQ
   121  ASIVLNETAT SLDNVLRTML RRFARDPDNN EPNCNLDLLM AMLFTDAGAP MRGKVHLLSD
   181  TIQGVTATVT GVRYQQSWLC IICTMKALQK RHVCISRLVR PQNWGENSCE VRFVILVLAP
   241  PKMKSTKTAM EVARTFATMF SDIAFRQKLL ETRTEEEFKE ALVHQRQLLT MVSHGPVAPR
   301  TKERSTVSLP AHRHPEPPKC KDFVPFGKGI REDIARRFPL YPLDFTDGII GKNKAVGKYI
   361  TTTLFLYFAC LLPTIAFGSL NDENTDGAID VQKTIAGQSI GGLLYALFSG QPLVILLTTA
   421  PLALYIQVIR VICDDYDLDF NSFYAWTGLW NSFFLALYAF FNLSLVMSLF KRSTEEIIAL
   481  FISITFVLDA VKGTVKIFWK YYYGHYLDDY HTKRTSSLVS LSGLGASLNA SLHTALNASF
   541  LASPTELPSA THSGQATAVL SLLIMLGTLW LGYTLYQFKK SPYLHPCVRE ILSDCALPIA
   601  VLAFSLISSH GFREIEMSKF RYNPSESPFA MAQIQSLSLR AVSGAMGLGF LLSMLFFIEQ
   661  NLVAALVNAP ENRLVKGTAY HWDLLLLAII NTGLSLFGLP WIHAAYPHSP LHVRALALVE
   721  ERVENGHIYD TIVNVKETRL TSLGASVLVG LSLLLLPVPL QWIPKPVLYG LFLYIALTSL
   781  DGNQLVQRVA LLLKEQTAYP PTHYIRRVPQ RKIHYFTGLQ VLQLLLLCAF GMSSLPYMKM
   841  IFPLIMIAMI PIRYILLPRI IEAKYLDVMD AEHRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC4A11 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: 14
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 76 nTPM

Expression across tissuesHPA

Tissue

kidney: 76 nTPM
thyroid gland: 75 nTPM
salivary gland: 68 nTPM
esophagus: 19 nTPM
skin: 15 nTPM
cervix: 10 nTPM

Single-cell type

salivary ionocytes: 262 nCPM
lacrimal acinar cells: 140 nCPM
salivary duct cells: 98 nCPM
renal collecting duct principal cells: 95 nCPM
submucosal glandular cells: 75 nCPM
papillary tip epithelial cells: 64 nCPM

Immune cell

non-classical monocyte: 0.2 nTPM
myeloid DC: 0.1 nTPM
T-reg: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

choroid plexus: 13 nTPM
thalamus: 11 nTPM
amygdala: 11 nTPM
cerebral cortex: 8.6 nTPM
hippocampal formation: 7.4 nTPM
pons: 7.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC4A11.

Disease | AllUniProt

Conditions SLC4A11 is implicated in, by any mechanism.

Corneal dystrophy and perceptive deafness (CDPD) MIM:217400
Corneal endothelial dystrophy (CHED) MIM:217700
Corneal dystrophy, Fuchs endothelial, 4 (FECD4) MIM:613268

Disease | GeneticClinVar

179 pathogenic / likely-pathogenic of 1,289 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Corneal dystrophy-perceptive deafness syndrome
Congenital hereditary endothelial dystrophy of cornea
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy
SLC4A11-related disorder

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): 0.94
gnomAD pLI: 0
gnomAD missense Z: 0.6
DepMap mean gene effect: -0.04
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

bicarbonate transmembrane transporter activity
protein dimerization activity
proton channel activity
proton transmembrane transporter activity
sodium channel activity
solute:inorganic anion antiporter activity
symporter activity
transmembrane transporter activity
water transmembrane transporter activity
active borate transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC4A11 as an antibody target. Whether an autoantibody or antibody against SLC4A11 could matter depends on whether native SLC4A11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC4A11 is annotated at the cell surface, where native SLC4A11 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 SLC4A11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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