ENSG00000197249


Homo sapiens
proteinSERPINA1serpindegranulationgolgitransportactivitybindingplateleterregulationvesicleextracellularendoplasmiclumenpeptidaseendopeptidaseneutrophilpost-translationalmembranereticulumgranuleinhibitorinsulin-likegrowthfactorfamilyconservedsitedomainsuperfamily

Features
Gene ID: ENSG00000197249
  
Biological name :SERPINA1
  
Synonyms : P01009 / SERPINA1 / serpin family A member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q32.13
Gene start: 94376747
Gene end: 94390693
  
Corresponding Affymetrix probe sets: 202833_s_at (Human Genome U133 Plus 2.0 Array)   211428_at (Human Genome U133 Plus 2.0 Array)   211429_s_at (Human Genome U133 Plus 2.0 Array)   230318_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452452
Ensembl peptide - ENSP00000452169
Ensembl peptide - ENSP00000452480
Ensembl peptide - ENSP00000490054
Ensembl peptide - ENSP00000348068
Ensembl peptide - ENSP00000376802
Ensembl peptide - ENSP00000376803
Ensembl peptide - ENSP00000385960
Ensembl peptide - ENSP00000386094
Ensembl peptide - ENSP00000390299
Ensembl peptide - ENSP00000408474
Ensembl peptide - ENSP00000416066
Ensembl peptide - ENSP00000416354
Ensembl peptide - ENSP00000450561
Ensembl peptide - ENSP00000451098
Ensembl peptide - ENSP00000451525
Ensembl peptide - ENSP00000451826
NCBI entrez gene - 5265     See in Manteia.
OMIM - 107400
RefSeq - NM_001127702
RefSeq - NM_000295
RefSeq - NM_001002235
RefSeq - NM_001002236
RefSeq - NM_001127700
RefSeq - NM_001127701
RefSeq - NM_001127703
RefSeq - NM_001127704
RefSeq - NM_001127705
RefSeq - NM_001127706
RefSeq - NM_001127707
RefSeq - XM_017021370
RefSeq Peptide - NP_001121176
RefSeq Peptide - NP_000286
RefSeq Peptide - NP_001002235
RefSeq Peptide - NP_001002236
RefSeq Peptide - NP_001121172
RefSeq Peptide - NP_001121173
RefSeq Peptide - NP_001121174
RefSeq Peptide - NP_001121175
RefSeq Peptide - NP_001121177
RefSeq Peptide - NP_001121178
RefSeq Peptide - NP_001121179
swissprot - G3V2B9
swissprot - P01009
swissprot - E9KL23
swissprot - A0A0B4J278
swissprot - G3V387
swissprot - G3V4I7
swissprot - G3V544
swissprot - G3V5R8
Ensembl - ENSG00000197249
  
Related genetic diseases (OMIM): 606963 - {Pulmonary disease, chronic obstructive, susceptibility to}, 606963
  613490 - Emphysema due to AAT deficiency, 613490
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
 serpina1ENSDARG00000090286Danio rerio
 serpina1lENSDARG00000090850Danio rerio
 serpina7ENSDARG00000087143Danio rerio
 si:ch211-186e20.2ENSDARG00000074712Danio rerio
 si:ch211-186e20.7ENSDARG00000077960Danio rerio
 zgc:174259ENSDARG00000091136Danio rerio
 ENSGALG00000020390Gallus gallus
 ENSGALG00000020388Gallus gallus
 ENSGALG00000046409Gallus gallus
 ENSGALG00000028598Gallus gallus
 SPIA1ENSGALG00000023070Gallus gallus
 SPIA4ENSGALG00000010969Gallus gallus
 P07758ENSMUSG00000066366Mus musculus
 P22599ENSMUSG00000071178Mus musculus
 Q00897ENSMUSG00000071177Mus musculus
 Q00898ENSMUSG00000072849Mus musculus
 Serpina1cENSMUSG00000079015Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P01011 / SERPINA3 / serpin family A member 3ENSG0000019613644
P29622 / SERPINA4 / serpin family A member 4ENSG0000010066543
SERPINA2 / serpin family A member 2 (gene/pseudogene)ENSG0000025859743
Q86U17 / SERPINA11 / serpin family A member 11ENSG0000018691042
P05154 / SERPINA5 / serpin family A member 5ENSG0000018848842
P05543 / SERPINA7 / serpin family A member 7ENSG0000012356140
P08185 / SERPINA6 / serpin family A member 6ENSG0000017009940
Q8IW75 / SERPINA12 / serpin family A member 12ENSG0000016595339
Q86WD7 / SERPINA9 / serpin family A member 9ENSG0000017005439
Q9UK55 / SERPINA10 / serpin family A member 10ENSG0000014009331
P05546 / SERPIND1 / serpin family D member 1ENSG0000009993728


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
establishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishment of localizationcellular localizationresponse to stressregulation of biological qualitycoagulationnitrogen compound metabolic processcellular metabolic processprimary metabolic processregulation of molecular functionorganic substance metabolic processimmune responsecell activationimmune effector processcellular component organizationcellular component biogenesisestablishestablishment of localizationcellular cellular localizationresponse response to stressregulatioregulation of biological qualitycoagulaticoagulationnitrogen nitrogen compound metabolic processcellular cellular metabolic processprimary mprimary metabolic processregulatioregulation of molecular functionorganic sorganic substance metabolic processimmune reimmune responsecell acticell activationimmune efimmune effector processcellular cellular component organizationcellular cellular component biogenesis
protein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingenzyme regulator activityprotein bindingprotein bindingenzyme regulator activityenzyme regulator activity
cellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellmembraneorganelleextracellular regionmembrane-enclosed lumencellcellmembranemembraneorganelleorganelleextracellular regionextracellular regionmembrane-enclosed lumenmembrane-enclosed lumen
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0048208 COPII vesicle coating TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0030134 COPII-coated ER to Golgi transport vesicle TAS
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Neutrophil degranulation
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive inheritanceGenitourinary abnormalityIntegument abnormalityAbnormality of the digestive systemNeoplasiaRespiratory abnormalityImmunological abnormalityAutosomal recessive Autosomal recessive inheritanceGenitourinary abnormGenitourinary abnormalityIntegument abnormaliIntegument abnormalityAbnormality of the dAbnormality of the digestive systemNeoplasiaNeoplasiaRespiratory abnormalRespiratory abnormalityImmunological abnormImmunological abnormality
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:0000100 Nephrotic syndrome 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0002094 Dyspnea 
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 HP:0002097 Emphysema 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000074695 LMAN1 / P49257 / lectin, mannose binding 1  / complex / reaction






 

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