ENSG00000126233


Homo sapiens

Features
Gene ID: ENSG00000126233
  
Biological name :SLURP1
  
Synonyms : P55000 / secreted LY6/PLAUR domain containing 1 / SLURP1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.3
Gene start: 142740944
Gene end: 142742411
  
Corresponding Affymetrix probe sets: 214536_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000246515
NCBI entrez gene - 57152     See in Manteia.
OMIM - 606119
RefSeq - NM_020427
RefSeq Peptide - NP_065160
swissprot - P55000
Ensembl - ENSG00000126233
  
Related genetic diseases (OMIM): 248300 - Meleda disease, 248300
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
 ENSGALG00000046632Gallus gallus
 Q9Z0K7ENSMUSG00000022596Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LYPD2 / Q6UXB3 / LY6/PLAUR domain containing 2ENSG0000019735340


Protein motifs (from Interpro)
Interpro ID Name
 IPR016054  Ly-6 antigen/uPA receptor-like
 IPR027103  Secreted Ly-6/uPAR-related protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001775 cell activation IBA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010839 negative regulation of keratinocyte proliferation IEA
 biological_processGO:0030336 negative regulation of cell migration IEA
 biological_processGO:0038195 urokinase plasminogen activator signaling pathway IDA
 biological_processGO:0050884 neuromuscular process controlling posture IEA
 biological_processGO:2000273 positive regulation of signaling receptor activity IEA
 cellular_componentGO:0005576 extracellular region NAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005125 cytokine activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030549 acetylcholine receptor activator activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000153 Abnormality of the mouth "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001156 Brachydactyly 
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 HP:0001598 Koilonychia 
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 HP:0001805 Thickened nails 
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 HP:0001808 Fragile nails 
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 HP:0003593 Early onset 
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 HP:0007390 Hyperkeratosis with erythema 
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 HP:0007435 Diffuse palmoplantar keratoderma 
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 HP:0007553 Congenital symmetrical palmoplantar keratosis 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008392 Subungual hyperkeratosis 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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