ENSG00000021488


Homo sapiens

Features
Gene ID: ENSG00000021488
  
Biological name :SLC7A9
  
Synonyms : P82251 / SLC7A9 / solute carrier family 7 member 9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.11
Gene start: 32830509
Gene end: 32869766
  
Corresponding Affymetrix probe sets: 220135_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464822
Ensembl peptide - ENSP00000468076
Ensembl peptide - ENSP00000468439
Ensembl peptide - ENSP00000023064
Ensembl peptide - ENSP00000465563
NCBI entrez gene - 11136     See in Manteia.
OMIM - 604144
RefSeq - XM_017026230
RefSeq - NM_001126335
RefSeq - NM_001243036
RefSeq - NM_014270
RefSeq - XM_006722992
RefSeq - XM_011526402
RefSeq Peptide - NP_055085
RefSeq Peptide - NP_001119807
RefSeq Peptide - NP_001229965
swissprot - P82251
swissprot - K7EKD0
Ensembl - ENSG00000021488
  
Related genetic diseases (OMIM): 220100 - Cystinuria, 220100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc7a9ENSDARG00000005894Danio rerio
 SLC7A9ENSGALG00000021158Gallus gallus
 Q9QXA6ENSMUSG00000030492Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q01650 / SLC7A5 / solute carrier family 7 member 5ENSG0000010325743
Q9UPY5 / SLC7A11 / solute carrier family 7 member 11ENSG0000015101242
Q9UM01 / SLC7A7 / solute carrier family 7 member 7ENSG0000015546542
Q92536 / SLC7A6 / solute carrier family 7 member 6ENSG0000010306442
Q9UHI5 / SLC7A8 / solute carrier family 7 member 8ENSG0000009206841
Q9NS82 / SLC7A10 / solute carrier family 7 member 10ENSG0000013087640
Q8TCU3 / SLC7A13 / solute carrier family 7 member 13ENSG0000016489330


Protein motifs (from Interpro)
Interpro ID Name
 IPR002293  Amino acid/polyamine transporter I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003333 amino acid transmembrane transport IEA
 biological_processGO:0006865 amino acid transport TAS
 biological_processGO:0015804 neutral amino acid transport IMP
 biological_processGO:0015811 L-cystine transport IMP
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0065003 protein-containing complex assembly TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015171 amino acid transmembrane transporter activity IEA
 molecular_functionGO:0015175 neutral amino acid transmembrane transporter activity IMP
 molecular_functionGO:0015184 L-cystine transmembrane transporter activity IMP
 molecular_functionGO:0015297 antiporter activity IBA
 molecular_functionGO:0022857 transmembrane transporter activity IEA
 molecular_functionGO:0042605 peptide antigen binding ISS


Pathways (from Reactome)
Pathway description
Basigin interactions
Amino acid transport across the plasma membrane
Defective SLC7A9 causes cystinuria (CSNU)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000707 Neurological abnormality "An abnormality of the central or peripheral nervous system." [HPO:curators]
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 HP:0000787 Kidney stones 
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 HP:0003131 Cystinuria 
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 HP:0003268 Argininuria 
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 HP:0003297 Hyperlysinuria 
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 HP:0003532 Ornithinuria 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138079 Q07837 / SLC3A1 / solute carrier family 3 member 1  / complex
 ENSG00000168003 P08195 / SLC3A2 / solute carrier family 3 member 2  / complex






 

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