Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) Homo sapiens
Analyze
Symbol: SLC4A1
Name: solute carrier family 4 member 1 (Diego blood group)
Description: Exhibits anion transmembrane transporter activity; ankyrin binding activity; and protein homodimerization activity. Involved in bicarbonate transport. Localizes to the basolateral plasma membrane; cortical cytoskeleton; and integral component of plasma membrane. Implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Biomarker of glucosephosphate dehydrogenase deficiency and hereditary elliptocytosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AE 1; AE1; anion exchange protein 1; anion exchanger 1; anion exchanger-1; band 3 anion exchanger; band 3 anion transport protein; BND3; CD233; CHC; DI; Diego blood group; EMPB3; EPB3; erythrocyte membrane protein band 3; erythroid anion exchange protein; FR; Froese blood group; MGC116750; MGC116753; MGC126619; MGC126623; RTA1A; SAO; solute carrier family 4 (anion exchanger), member 1 (Diego blood group); solute carrier family 4 member 1; solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); solute carrier family 4, anion exchanger, number 1; solute carrier family 4, member 1; SPH4; SW; Swann blood group; Waldner blood group; WD; WD1; WR; Wright blood group
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1744,248,390 - 44,268,141 (-)Ensembl
GRCh381744,248,390 - 44,268,161 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371742,325,758 - 42,351,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,682,566 - 39,700,993 (-)NCBINCBI36hg18NCBI36
Build 341739,682,565 - 39,700,993NCBI
Celera1739,034,465 - 39,054,210 (-)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,089,106 - 38,108,850 (-)NCBIHuRef
CHM1_11742,561,259 - 42,581,020 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC4A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737027
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.