ENSG00000104368
Homo sapiens | |
Features
| Gene ID: | ENSG00000104368 | | | | | Biological name : | PLAT | | | | | Synonyms : | P00750 / plasminogen activator, tissue type / PLAT | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 8 | | Strand: | -1 | | Band: | p11.21 | | Gene start: | 42175233 | | Gene end: | 42207724 | | | | | Corresponding Affymetrix probe sets: | 201860_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000392045
Ensembl peptide - ENSP00000407861
Ensembl peptide - ENSP00000429801
Ensembl peptide - ENSP00000429542
Ensembl peptide - ENSP00000429401
Ensembl peptide - ENSP00000428886
Ensembl peptide - ENSP00000428797
Ensembl peptide - ENSP00000220809
Ensembl peptide - ENSP00000270188
NCBI entrez gene - 5327
See in Manteia.
OMIM - 173370
RefSeq - NM_001319189
RefSeq - NM_033011
RefSeq - NM_000930
RefSeq Peptide - NP_000921
RefSeq Peptide - NP_001306118
RefSeq Peptide - NP_127509
swissprot - E7ESF4
swissprot - P00750
swissprot - E5RHG4
swissprot - E5RGA1
swissprot - B4DNJ1
swissprot - B4DN26
swissprot - H0YBH9
Ensembl - ENSG00000104368
| | | | | Related genetic diseases (OMIM): | 612348 - Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 |
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)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000001 | Kringle | | IPR000083 | Fibronectin, type I | | IPR000742 | EGF-like domain | | IPR001254 | Serine proteases, trypsin domain | | IPR001314 | Peptidase S1A, chymotrypsin family | | IPR009003 | Peptidase S1, PA clan | | IPR013032 | EGF-like, conserved site | | IPR013806 | Kringle-like fold | | IPR018056 | Kringle, conserved site | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR026280 | Tissue plasminogen activator | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR034811 | Tissue-type plasminogen activator |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| 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:0004850 | recurrent deep vein thrombosis | |
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| | HP:0100724 | Hypercoagulability | |
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Interacting proteins (from Reactome)
| ENSG00000106366 | P05121 / SERPINE1 / serpin family E member 1 | / complex / reaction | | ENSG00000104368 | PLAT / P00750 / plasminogen activator, tissue type | / complex | | ENSG00000145431 | PDGFC / Q9NRA1 / platelet derived growth factor C | / reaction | | ENSG00000170962 | PDGFD / Q9GZP0 / platelet derived growth factor D | / reaction | | ENSG00000122194 | PLG / P00747 / plasminogen | / complex / reaction |
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