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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
  • Alliance
    gene page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:102239646-102256107 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 66.29 cM, cytoband D
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    565 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109393
 protein coding gene Chr11:102239646-102257029 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC4A1, solute carrier family 4 member 1 (Diego blood group)
  • 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; chr17:44248390-44268141 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Slc4a1 mouse models; 3 with human SLC4A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    72 phenotypes from 6 alleles in 8 genetic backgrounds
    31 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.
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
less
  • All GO Annotations
    61
  • GO References
    18
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    783
  • Tissues
    19
  • cDNA Data
    132
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 4407 C57BL/6  
    polypeptide P04919 UniProt | EBI | MGI Sequence Detail 929 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 150
      Genomic 5
      cDNA 135
      Primer pair 6
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1167, MGD-MRK-38438, MGD-MRK-9369, MGI:2671335
    References
    more
    • Summaries
      All 126
      Developmental Gene Expression 29
      Diseases 2
      Gene Ontology 18
      Phenotypes 31
    • 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:355097 Gao C, et al., Generation of Distal Renal Segments Involves a Unique Population of Aqp2 + Progenitor Cells. J Am Soc Nephrol. 2021 Dec 1;32(12):3035-3049
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory