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Slc4a1
Gene Detail
Symbol

Name
ID
Slc4a1
solute carrier family 4 (anion exchanger), member 1
MGI:109393
STS
Synonyms
Ae1, band 3, CD233, Empb3, erythrocyte membrane protein band 3, l11Jus51
Feature Type
protein coding gene
Genetic Map
Chromosome 11
66.29 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr11:102348824-102366203 bp, - strand
From VEGA annotation of GRCm38

  17380 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:133556  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: band 3-like protein
Gene Tree: Slc4a1

Human
homologs
Human Homolog SLC4A1, solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
NCBI Gene ID 6521
neXtProt AC  NX_P02730
Human Synonyms  AE1, BND3, CD233, DI, EMPB3, EPB3, FR, RTA1A, SW, WD, WD1, WR
Human Chr (Location)  17q21.31; chr17:44248390-44274286 (-)  GRCh38
Disease Associations  (5) Diseases Associated with Human SLC4A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality.
 
Human Diseases Modeled Using Mouse Slc4a1 (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Slc4a1 interacts with 177 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 annotations)
Process anion transport, bicarbonate transport, ...
Component basolateral plasma membrane, blood microparticle, ...
Function actin binding, anion:anion antiporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (21 records)
Data Summary: Results (57)    Tissues (12)    Images (26)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 51
RT-PCR 2
RNase protection 3
cDNA source data(131)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(146) Genomic(5) cDNA(134) Primer pair(4) Other(3)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000002767 (Evidence)
Ensembl Gene ModelENSMUSG00000006574 (Evidence)
Entrez Gene20533 (Evidence)
UniGene7248
DFCITC1748544, TC1573723
DoTSDT.101406510, DT.101288034, DT.101190353, DT.496052, DT.99867086, DT.91300669
NIA Mouse Gene IndexU033475
Consensus CDS ProjectCCDS25496.1
International Mouse Knockout Project StatusSlc4a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002767 VEGA Gene Model | MGI Sequence Detail 17380 C57BL/6J ±  kb
transcript OTTMUST00000005533 VEGA | MGI Sequence Detail 4545 Not Applicable 
polypeptide OTTMUSP00000002635 VEGA | MGI Sequence Detail 929 Not Applicable 

For the selected sequences
All sequences(78) RefSeq(2) UniProt(21)
Polymorphisms
PCR(5) : SNPs within 2kb(159 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018241 Anion exchange, conserved site
InterPro IPR001717 Anion exchange protein
InterPro IPR002977 Anion exchange protein 1
InterPro IPR013769 Band 3 cytoplasmic domain
InterPro IPR011531 Bicarbonate transporter, C-terminal
InterPro IPR003020 Bicarbonate transporter, eukaryotic
InterPro IPR016152 Phosphotransferase/anion transporter
Protein Ontology PR:000002033 band 3 anion transport protein
References
(Earliest) J:35614 Kopito RR, et al., Primary structure and transmembrane orientation of the murine anion exchange protein. Nature. 1985 Jul 18-24;316(6025):234-8
(Latest) J:208725 Sui Z, et al., Tropomodulin3-null mice are embryonic lethal with anemia due to impaired erythroid terminal differentiation in the fetal liver. Blood. 2014 Jan 30;123(5):758-67
All references(107)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1167, MGD-MRK-38438, MGD-MRK-9369, MGI:2671335

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory