ENSG00000101194


Homo sapiens

Features
Gene ID: ENSG00000101194
  
Biological name :SLC17A9
  
Synonyms : Q9BYT1 / SLC17A9 / solute carrier family 17 member 9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q13.33
Gene start: 62952647
Gene end: 62969585
  
Corresponding Affymetrix probe sets: 219559_at (Human Genome U133 Plus 2.0 Array)   232922_s_at (Human Genome U133 Plus 2.0 Array)   233328_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359374
Ensembl peptide - ENSP00000359376
Ensembl peptide - ENSP00000388215
NCBI entrez gene - 63910     See in Manteia.
OMIM - 612107
RefSeq - XM_011528978
RefSeq - NM_001302643
RefSeq - NM_022082
RefSeq Peptide - NP_071365
RefSeq Peptide - NP_001289572
swissprot - Q5W197
swissprot - Q9BYT1
Ensembl - ENSG00000101194
  
Related genetic diseases (OMIM): 616063 - Porokeratosis 8, disseminated superficial actinic type, 616063
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
 slc17a9aENSDARG00000042954Danio rerio
 slc17a9bENSDARG00000011049Danio rerio
 SLC17A9ENSGALG00000028225Gallus gallus
 Q8VCL5ENSMUSG00000023393Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NRA2 / SLC17A5 / solute carrier family 17 member 5ENSG0000011989928
O00624 / SLC17A2 / solute carrier family 17 member 2ENSG0000011233727
Q9P2U7 / SLC17A7 / solute carrier family 17 member 7ENSG0000010488827
Q8NDX2 / SLC17A8 / solute carrier family 17 member 8ENSG0000017952025
Q9P2U8 / SLC17A6 / solute carrier family 17 member 6ENSG0000009166425
Q9Y2C5 / SLC17A4 / solute carrier family 17 member 4ENSG0000014603925
O00476 / SLC17A3 / solute carrier family 17 member 3ENSG0000012456424
Q14916 / SLC17A1 / solute carrier family 17 member 1ENSG0000012456823


Protein motifs (from Interpro)
Interpro ID Name
 IPR005829  Sugar transporter, conserved site
 IPR011701  Major facilitator superfamily
 IPR020846  Major facilitator superfamily domain
 IPR027378  Cyclic nucleotide-regulated ion channel, N-terminal
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006820 anion transport IBA
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1903146 regulation of autophagy of mitochondrion IMP
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
No match


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:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0002860 Squamous cell carcinoma 
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200044 Porokeratosis "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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