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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:102348820-102365281 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 66.29 cM, cytoband D
  • Mapping Data
    6 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    154 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109393
protein coding gene Chr11:102348820-102366203 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019232
protein coding gene Chr11:105314974-105332755 (-)
A/J MGP_AJ_G0019200
protein coding gene Chr11:100876913-100894310 (-)
AKR/J MGP_AKRJ_G0019169
protein coding gene Chr11:103990994-104009893 (-)
BALB/cJ MGP_BALBcJ_G0019174
protein coding gene Chr11:101355526-101372896 (-)
C3H/HeJ MGP_C3HHeJ_G0018983
protein coding gene Chr11:104200626-104218076 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019623
protein coding gene Chr11:108606367-108623726 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017249
protein coding gene Chr11:98302934-98320505 (-)
CAST/EiJ MGP_CASTEiJ_G0018537
protein coding gene Chr11:105188738-105206833 (-)
CBA/J MGP_CBAJ_G0018952
protein coding gene Chr11:113086883-113106934 (-)
DBA/2J MGP_DBA2J_G0019064
protein coding gene Chr11:100390460-100407856 (-)
FVB/NJ MGP_FVBNJ_G0019054
protein coding gene Chr11:99924353-99941714 (-)
LP/J MGP_LPJ_G0019133
protein coding gene Chr11:105838196-105857177 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019085
protein coding gene Chr11:112584756-112602101 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019661
protein coding gene Chr11:104360215-104379918 (-)
PWK/PhJ MGP_PWKPhJ_G0018300
protein coding gene Chr11:101459769-101476042 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018092
protein coding gene Chr11:104114080-104134507 (-)
WSB/EiJ MGP_WSBEiJ_G0018586
protein coding gene Chr11:104356897-104375721 (-)



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: HGNC, HomoloGene
  • 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
    UniProt: P02730

  • Chr Location
    17q21.31; chr17:44248390-44268161 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
IDs
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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20533 NCBI Gene Model | MGI Sequence Detail 16462 C57BL/6J ±  kb
    transcript NM_011403 RefSeq | MGI Sequence Detail 4584 C57BL/6  
    polypeptide P04919 UniProt | EBI | MGI Sequence Detail 929 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 147
      Genomic 5
      cDNA 135
      Primer pair 4
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1167, MGD-MRK-38438, MGD-MRK-9369, MGI:2671335
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 24
      Diseases 2
      Gene Ontology 12
      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:244116 Huang HM, et al., A novel ENU-induced ankyrin-1 mutation impairs parasite invasion and increases erythrocyte clearance during malaria infection in mice. Sci Rep. 2016 Nov 16;6:37197

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory