Slc4a4
Gene Detail

Symbol Name ID

Slc4a4 solute carrier family 4 (anion exchanger), member 4 MGI:1927555

Synonyms

NBC, NBC1

Feature Type

protein coding gene

Genetic Map

Chromosome 5

44.10 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr5:88886818-89239653 bp, + strand From VEGA annotation of GRCm38   352836 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55776  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: band 3-like protein
Gene Tree: Slc4a4

Human homologs

Human Homolog		SLC4A4, solute carrier family 4, sodium bicarbonate cotransporter, member 4
NCBI Gene ID		8671
neXtProt AC		NX_Q9Y6R1
Human Synonyms		hhNMC, HNBC1, KNBC, NBC1, NBC2, NBCe1-A, pNBC, SLC4A5
Human Chr (Location)		4q21; chr4:72053003-72437804 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC4A4

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.

 
Human Diseases Modeled Using Mouse Slc4a4 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	anion transport, bicarbonate transport, ...
Component	integral to membrane, integral to plasma membrane, ...
Function	anion transmembrane transporter activity, inorganic anion exchanger activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (36)    Tissues (14)    Images (16)
Theiler Stages: 11, 13, 23, 28

Assay Type	Results
RNA in situ	36

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(18) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(8)

Other database links

VEGA Gene Model	OTTMUSG00000025881 (Evidence)
Ensembl Gene Model	ENSMUSG00000060961 (Evidence)
Entrez Gene	54403 (Evidence)
DFCI	TC1586481, TC1637521, TC1641396
DoTS	DT.91569891, DT.97409209
NIA Mouse Gene Index	U040642
Consensus CDS Project	CCDS19406.1, CCDS51541.1, CCDS57352.1
International Mouse Knockout Project Status	Slc4a4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025881	VEGA Gene Model | MGI Sequence Detail	352836	C57BL/6J
transcript	OTTMUST00000063777	VEGA | MGI Sequence Detail	3494	Not Applicable
polypeptide	OTTMUSP00000031585	VEGA | MGI Sequence Detail	1094	Not Applicable

All sequences(79) RefSeq(6) UniProt(8)

Polymorphisms

SNPs(1995 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011531	Bicarbonate transporter, C-terminal
InterPro	IPR013769	Bicarbonate transporter, cytoplasmic
InterPro	IPR003020	Bicarbonate transporter, eukaryotic
InterPro	IPR016152	Phosphotransferase/anion transporter
InterPro	IPR003024	Sodium bicarbonate cotransporter
Protein Ontology	PR:000015160	electrogenic sodium bicarbonate cotransporter 1

References

(Earliest) J:62645 Abuladze N, et al., Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J Biol Chem. 1998 Jul 10;273(28):17689-95
(Latest) J:186877 Lo YF, et al., Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. Kidney Int. 2011 Apr;79(7):730-41
All references(42)

Other accession IDs

MGI:2140969