InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC4A4

Summary

InnateDB Protein

IDBP-22871.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC4A4

Protein Name

solute carrier family 4, sodium bicarbonate cotransporter, member 4

Synonyms

hhNMC; HNBC1; KNBC; NBC1; NBC2; NBCe1-A; pNBC; SLC4A5;

Species

Homo sapiens

Ensembl Protein

ENSP00000344272

InnateDB Gene

IDBG-22865 (SLC4A4)

Protein Structure

UniProt Annotation

Function

Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269PubMed:10069984, ECO:0000269PubMed:12907161, ECO:0000269PubMed:9235899, ECO:0000269PubMed:9651366}.

Subcellular Localization

Basolateral cell membrane {ECO:0000269PubMed:12907161, ECO:0000269PubMed:15273250}; Multi- pass membrane protein {ECO:0000269PubMed:12907161, ECO:0000269PubMed:15273250}.

Disease Associations

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269PubMed:10545938, ECO:0000269PubMed:15471865, ECO:0000269PubMed:15713912, ECO:0000269PubMed:15930088}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).

Tissue Specificity

Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules. {ECO:0000269PubMed:10069984, ECO:0000269PubMed:11743927, ECO:0000269PubMed:12907161, ECO:0000269PubMed:14559244, ECO:0000269PubMed:15329059, ECO:0000269PubMed:9235899, ECO:0000269PubMed:9651366}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005452	inorganic anion exchanger activity
GO:0005515	protein binding
GO:0008509	anion transmembrane transporter activity
GO:0008510	sodium:bicarbonate symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006820	anion transport
GO:0015701	bicarbonate transport
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR003020 Bicarbonate transporter, eukaryotic
IPR003024 Sodium bicarbonate cotransporter
IPR011531 Bicarbonate transporter, C-terminal
IPR013769 Band 3 cytoplasmic domain
IPR016152 Phosphotransferase/anion transporter

PFAM

PF00955
PF07565

PRINTS

PR01231
PR01232

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y6R1