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Slc7a9 Gene Detail
Summary
  • Symbol
    Slc7a9
  • Name
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
  • Synonyms
    bo, + amino acid transporter, bo, +AT, CSNU3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353656
    NCBI Gene: 30962
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:35448796-35466036 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17241 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 21.37 cM, cytoband B1
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SLC7A9, solute carrier family 7 member 9
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC7A9, solute carrier family 7 member 9
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BAT1, CSNU3
  • Links
    NCBI Gene ID: 11136
    neXtProt AC: NX_P82251
    UniProt: P82251

  • Chr Location
    19q13.11; chr19:32830511-32870958 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Slc7a9 mouse models; 1 with human SLC7A9 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    4 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.
Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria.
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 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
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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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031618 VEGA Gene Model | MGI Sequence Detail 17241 C57BL/6J ±  kb
    transcript OTTMUST00000078324 VEGA | MGI Sequence Detail 1869 Not Applicable  
    polypeptide OTTMUSP00000041639 VEGA | MGI Sequence Detail 487 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      140 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 3
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 7
      Phenotypes 4
    • Earliest
      J:58992 Pfeiffer R, et al., Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47
    • Latest
      J:204580 Giacopo AD, et al., Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice. Am J Physiol Renal Physiol. 2013 Dec;305(12):F1645-55

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory