ENSG00000132386


Homo sapiens

Features
Gene ID: ENSG00000132386
  
Biological name :SERPINF1
  
Synonyms : P36955 / SERPINF1 / serpin family F member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p13.3
Gene start: 1761959
Gene end: 1777574
  
Corresponding Affymetrix probe sets: 202283_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461405
Ensembl peptide - ENSP00000461214
Ensembl peptide - ENSP00000461660
Ensembl peptide - ENSP00000254722
Ensembl peptide - ENSP00000458484
Ensembl peptide - ENSP00000459107
Ensembl peptide - ENSP00000459869
Ensembl peptide - ENSP00000460842
Ensembl peptide - ENSP00000460905
NCBI entrez gene - 5176     See in Manteia.
OMIM - 172860
RefSeq - XM_017024754
RefSeq - NM_001329903
RefSeq - NM_002615
RefSeq Peptide - NP_001316832
RefSeq Peptide - NP_002606
swissprot - I3L425
swissprot - I3L4F9
swissprot - I3L4N7
swissprot - I3L4Z0
swissprot - P36955
swissprot - A0A140VKF3
swissprot - I3L107
swissprot - I3L2R7
swissprot - I3L1U4
swissprot - I3L3Z3
Ensembl - ENSG00000132386
  
Related genetic diseases (OMIM): 613982 - Osteogenesis imperfecta, type VI, 613982
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
 serpinf1ENSDARG00000069048Danio rerio
 SERPINF1ENSGALG00000003015Gallus gallus
 P97298ENSMUSG00000000753Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P08697 / SERPINF2 / serpin family F member 2ENSG0000016771127
P05155 / SERPING1 / serpin family G member 1ENSG0000014913124


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR033832  Pigment epithelium derived factor
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007568 aging IEA
 biological_processGO:0007614 short-term memory IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0010447 response to acidic pH IEA
 biological_processGO:0010596 negative regulation of endothelial cell migration IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0016525 negative regulation of angiogenesis IDA
 biological_processGO:0042698 ovulation cycle IEA
 biological_processGO:0046685 response to arsenic-containing substance IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050769 positive regulation of neurogenesis IDA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0060770 negative regulation of epithelial cell proliferation involved in prostate gland development IEA
 biological_processGO:0071279 cellular response to cobalt ion IEA
 biological_processGO:0071300 cellular response to retinoic acid IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043203 axon hillock IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity TAS
 molecular_functionGO:0005515 protein binding IPI


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:0001388 Joint laxity 
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 HP:0002659 Increased susceptibility to fractures "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken]
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 HP:0002812 Coxa vara 
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 HP:0002953 Vertebral compression fractures 
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 HP:0003179 Protrusio acetabuli "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators]
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 HP:0004568 Beaking of vertebral bodies 
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 HP:0004586 Biconcave vertebral bodies 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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