Gene

slc4a1a

ID
ZDB-GENE-010525-1
Name
solute carrier family 4 member 1a (Diego blood group)
Symbol
slc4a1a Nomenclature History
Previous Names
  • slc4a1
  • zAE1a (1)
  • AE1/band 3 (1)
  • band3 (1)
  • erythroid anion exchanger 1 (1)
  • ret
  • retsina
  • si:dz180g5.1
  • zgc:111889
  • zgc:152771
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to have anion:anion antiporter activity and bicarbonate transmembrane transporter activity. Involved in anion transport; embryonic hemopoiesis; and erythrocyte differentiation. Predicted to localize to basolateral plasma membrane. Is expressed in several structures, including erythroid lineage cell; hematopoietic system; liver; mesoderm; and pleuroperitoneal region. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
36 figures from 19 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
14 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc4a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary spherocytosis type 4 Alliance Spherocytosis, type 4 612653
Cryohydrocytosis 185020
Distal renal tubular acidosis 1 179800
Distal renal tubular acidosis 4 with hemolytic anemia 611590
Ovalocytosis, SA type 166900
[Blood group, Diego] 110500
[Blood group, Froese] 601551
[Blood group, Swann] 601550
[Blood group, Waldner] 112010
[Blood group, Wright] 112050
[Malaria, resistance to] 611162
Associated With slc4a1a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018241 Anion exchange, conserved site
Domain IPR011531 Bicarbonate transporter, C-terminal
Domain IPR013769 Band 3 cytoplasmic domain
Family IPR001717 Anion exchange protein
Family IPR003020 Bicarbonate transporter, eukaryotic
Homologous_superfamily IPR016152 Phosphotransferase/anion transporter
Domain Details Per Protein
Protein Length Anion exchange, conserved site Anion exchange protein Band 3 cytoplasmic domain Bicarbonate transporter, C-terminal Bicarbonate transporter, eukaryotic Phosphotransferase/anion transporter
UniProtKB:Q8JFT9 812
UniProtKB:A4QN38 385
UniProtKB:Q7ZZJ7 905
UniProtKB:Q567M0 399
UniProtKB:B3DKQ1 905
UniProtKB:A7MD95 285
UniProtKB:Q7ZZV6 904
UniProtKB:Q08CS0 234
UniProtKB:A0A2R9YJH2 904
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-slc4a1 polyclonal Rabbit
1
Ab1-slc4a1 polyclonal Rabbit
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations