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Slc8a1 Gene Detail
Summary
  • Symbol
    Slc8a1
  • Name
    solute carrier family 8 (sodium/calcium exchanger), member 1
  • Synonyms
    D930008O12Rik, Ncx1
  • Feature Type
    protein coding gene
  • IDs
    MGI:107956
    NCBI Gene: 20541
  • Alliance
    gene page
  • Transcription Start Sites
    71 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:81680534-82045806 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 51.29 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11270 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107956
 protein coding gene Chr17:81680534-82045816 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024069
 protein coding gene Chr17:84373443-84677809 (-)
A/J MGP_AJ_G0024027
 protein coding gene Chr17:81748660-82009069 (-)
AKR/J MGP_AKRJ_G0023996
 protein coding gene Chr17:83063167-83325598 (-)
BALB/cJ MGP_BALBcJ_G0024029
 protein coding gene Chr17:81620708-81906534 (-)
C3H/HeJ MGP_C3HHeJ_G0023793
 protein coding gene Chr17:83895488-84166001 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024473
 protein coding gene Chr17:87395243-87679989 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021913
 protein coding gene Chr17:77087248-77357903 (-)
CAST/EiJ MGP_CASTEiJ_G0023272
 protein coding gene Chr17:84597852-84906571 (-)
CBA/J MGP_CBAJ_G0023767
 protein coding gene Chr17:91039470-91359393 (-)
DBA/2J MGP_DBA2J_G0023896
 protein coding gene Chr17:80228740-80510642 (-)
FVB/NJ MGP_FVBNJ_G0023862
 protein coding gene Chr17:79751313-80033368 (-)
LP/J MGP_LPJ_G0023979
 protein coding gene Chr17:85192768-85479209 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023890
 protein coding gene Chr17:91078050-91390506 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024518
 protein coding gene Chr17:83525488-83817463 (-)
PWK/PhJ MGP_PWKPhJ_G0023018
 protein coding gene Chr17:79784323-80101310 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022829
 protein coding gene Chr17:80311210-80602983 (-)
WSB/EiJ MGP_WSBEiJ_G0023340
 protein coding gene Chr17:84359378-84660740 (-)



Homology
more
  • Human Ortholog
    SLC8A1, solute carrier family 8 member A1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC8A1, solute carrier family 8 member A1
  • Synonyms
    NCX1
  • Links
    NCBI Gene ID: 6546
    neXtProt AC: NX_P32418
    UniProt: P32418

  • Chr Location
    2p22.1; chr2:40097270-40611053 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SLC8A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    61 phenotypes from 7 alleles in 8 genetic backgrounds
    8 phenotypes from multigenic genotypes
    4 images
    61 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 targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    108
  • GO References
    23
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
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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
    1404
  • Tissues
    283
  • cDNA Data
    28
  • Literature Summary
    49
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000054640 Ensembl Gene Model | MGI Sequence Detail 365273 C57BL/6J ±  kb
    transcript ENSMUST00000163123 Ensembl | MGI Sequence Detail 3180 Not Applicable  
    polypeptide ENSMUSP00000132809 Ensembl | MGI Sequence Detail 970 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 1
      cDNA 29
      Primer pair 10
      Other 2

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-36536, MGI:2146942, MGI:2147028, MGI:2441999
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 49
      Gene Ontology 23
      Phenotypes 61
    • Earliest
      J:47389 Nicoll DA, et al., Molecular cloning and functional expression of the cardiac sarcolemmal Na(+)-Ca2+ exchanger. Science. 1990 Oct 26;250(4980):562-5
    • Latest
      J:349860 Hashimoto K, et al., Loss of connectin novex-3 leads to heart dysfunction associated with impaired cardiomyocyte proliferation and abnormal nuclear mechanics. Sci Rep. 2024 Jun 14;14(1):13727
    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)
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    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