About   Help   FAQ
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
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:35148221-35165461 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 21.37 cM, cytoband B1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    553 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353656
 protein coding gene Chr7:35148152-35165461 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032089
 protein coding gene Chr7:34841650-34858943 (+)
A/J MGP_AJ_G0032069
 protein coding gene Chr7:33907697-33924866 (+)
AKR/J MGP_AKRJ_G0032002
 protein coding gene Chr7:34737534-34754733 (+)
BALB/cJ MGP_BALBcJ_G0032076
 protein coding gene Chr7:34201361-34218930 (+)
C3H/HeJ MGP_C3HHeJ_G0031793
 protein coding gene Chr7:35620694-35637913 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032553
 protein coding gene Chr7:36560083-36579970 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029586
 protein coding gene Chr7:34628896-34646139 (+)
CAST/EiJ MGP_CASTEiJ_G0031128
 protein coding gene Chr7:26780761-26799180 (+)
CBA/J MGP_CBAJ_G0031761
 protein coding gene Chr7:37700226-37719278 (+)
DBA/2J MGP_DBA2J_G0031913
 protein coding gene Chr7:33759528-33776675 (+)
FVB/NJ no annotation
LP/J MGP_LPJ_G0031990
 protein coding gene Chr7:35173578-35190770 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031906
 protein coding gene Chr7:36714712-36731926 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032568
 protein coding gene Chr7:34279711-34296868 (+)
PWK/PhJ MGP_PWKPhJ_G0030850
 protein coding gene Chr7:27091306-27108661 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030685
 protein coding gene Chr7:23845186-23861838 (+)
WSB/EiJ MGP_WSBEiJ_G0031238
 protein coding gene Chr7:34829443-34848234 (+)



Homology
more
  • Human Ortholog
    SLC7A9, solute carrier family 7 member 9
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC7A9, solute carrier family 7 member 9
  • Synonyms
    BAT1, CSNU3
  • Links
    NCBI Gene ID: 11136
    neXtProt AC: NX_P82251
    UniProt: P82251

  • Chr Location
    19q13.11; chr19:32830509-32869767 (-)  GRCh38
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
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    9 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.
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
less
  • All GO Annotations
    31
  • GO References
    8
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
    778
  • Tissues
    65
  • cDNA Data
    9
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030492 Ensembl Gene Model | MGI Sequence Detail 17241 C57BL/6J ±  kb
    transcript ENSMUST00000118383 Ensembl | MGI Sequence Detail 1869 Not Applicable  
    polypeptide ENSMUSP00000113181 Ensembl | MGI Sequence Detail 487 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 3
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 8
      Phenotypes 9
    • 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:338480 Mayayo-Vallverdu C, et al., The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9(-/-) mouse model of cystinuria. Redox Biol. 2023 Aug;64:102801
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory