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Slc9a1 Gene Detail
Summary
  • Symbol
    Slc9a1
  • Name
    solute carrier family 9 (sodium/hydrogen exchanger), member 1
  • Synonyms
    antiporter, Apnh, Nhe1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102462
    NCBI Gene: 20544
Location & Maps
more
  • Sequence Map
    Chr4:133369706-133423702 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53997 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SLC9A1, solute carrier family 9 member A1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC9A1, solute carrier family 9 member A1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APNH, LIKNS, NHE1, NHE-1, PPP1R143
  • Links
    NCBI Gene ID: 6548
    neXtProt AC: NX_P19634

  • Chr Location
    1p36.1-p35; chr1:27098809-27155130 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SLC9A1 associations

Human Disease Mouse Models
       Lichtenstein-Knorr Syndrome; LIKNS   OMIM: 616291
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 2 alleles in 5 genetic backgrounds
    1 images
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    2
  • Gene trapped
    8
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving Slc9a1
  • Incidental Mutations
Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.
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 OTTMUSG00000011153 VEGA Gene Model | MGI Sequence Detail 53997 C57BL/6J ±  kb
transcript OTTMUST00000026125 VEGA | MGI Sequence Detail 4676 Not Applicable  
polypeptide OTTMUSP00000011959 VEGA | MGI Sequence Detail 820 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    448 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000015210 sodium/hydrogen exchanger 1
  • InterPro Domains
    IPR006153 Cation/H+ exchanger
    IPR018422 Cation/H+ exchanger, CPA1 family
    IPR004709 Na+/H+ exchanger
    IPR001970 Na+/H+ exchanger, isoform 1 (NHE1)
    IPR032103 Sodium/hydrogen exchanger, regulatory region
Molecular
Reagents
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  • All nucleic 117
    cDNA 111
    Primer pair 5
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-12876, MGD-MRK-1362, MGD-MRK-19299, MGI:1196422, MGI:2140598
References
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  • Summaries
    All 102
    Developmental Gene Expression 10
    Gene Ontology 10
    Phenotypes 40
  • Earliest
    J:12498 Mattei MG, et al., Localization of the antiporter gene (APNH) and chromosomal segment homology between human 1p, mouse 4 and Chinese hamster 2q. Cytogenet Cell Genet. 1989;51:1041
  • Latest
    J:220149 Prasad V, et al., NHE1 deficiency in liver: implications for non-alcoholic fatty liver disease. Biochem Biophys Res Commun. 2014 Jul 25;450(2):1027-31

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
04/26/2016
MGI 6.03
The Jackson Laboratory