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Slc4a1 Gene Detail
Summary
  • Symbol
    Slc4a1
  • Name
    solute carrier family 4 (anion exchanger), member 1
  • Synonyms
    Ae1, band 3, CD233, Empb3, erythrocyte membrane protein band 3, l11Jus51
  • Feature Type
    protein coding gene
  • IDs
    MGI:109393
    NCBI Gene: 20533
  • Gene Overview
    MyGene.info: SLC4A1
Location & Maps
more
  • Sequence Map
    Chr11:102348824-102366203 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17380 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 66.29 cM, cytoband D
  • Mapping Data
    6 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    SLC4A1, solute carrier family 4 member 1 (Diego blood group)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SLC4A1, solute carrier family 4 member 1 (Diego blood group)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
  • Links
    NCBI Gene ID: 6521
    neXtProt AC: NX_P02730

  • Chr Location
    17q21.31; chr17:44248390-44268161 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Slc4a1 mouse models; 7 with human SLC4A1 associations

Human Disease Mouse Models
       Spherocytosis, Type 4; SPH4   OMIM: 612653 View 1 model
       Renal Tubular Acidosis, Distal, Autosomal Recessive; RTADR   OMIM: 602722 View 1 model
       Cryohydrocytosis; CHC   OMIM: 185020
Malaria, Susceptibility to   OMIM: 611162
Ovalocytosis, Southeast Asian; SAO   OMIM: 166900
Renal Tubular Acidosis, Distal, Autosomal Dominant   OMIM: 179800
Renal Tubular Acidosis, Distal, with Hemolytic Anemia   OMIM: 611590
Solute Carrier Family 4 (anion Exchanger), Member 1; SLC4A1   OMIM: 109270
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 6 alleles in 8 genetic backgrounds
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    8
  • Genomic Mutations
    1 involving Slc4a1
  • Incidental Mutations
Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    158 from dbSNP Build 142
  • PCR
Protein
Information
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Molecular
Reagents
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  • All nucleic 146
    Genomic 5
    cDNA 134
    Primer pair 4
    Other 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-1167, MGD-MRK-38438, MGD-MRK-9369, MGI:2671335
References
more
  • Summaries
    All 103
    Developmental Gene Expression 22
    Diseases 2
    Gene Ontology 11
    Phenotypes 29
  • 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:222166 Baldwin MR, et al., Merozoite surface protein 1 recognition of host glycophorin A mediates malaria parasite invasion of red blood cells. Blood. 2015 Apr 23;125(17):2704-11

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory