ENSG00000124570


Homo sapiens

Features
Gene ID: ENSG00000124570
  
Biological name :SERPINB6
  
Synonyms : P35237 / SERPINB6 / serpin family B member 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p25.2
Gene start: 2948159
Gene end: 2972165
  
Corresponding Affymetrix probe sets: 1556950_s_at (Human Genome U133 Plus 2.0 Array)   211474_s_at (Human Genome U133 Plus 2.0 Array)   231628_s_at (Human Genome U133 Plus 2.0 Array)   231655_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000484343
Ensembl peptide - ENSP00000338358
Ensembl peptide - ENSP00000369891
Ensembl peptide - ENSP00000369896
Ensembl peptide - ENSP00000369901
Ensembl peptide - ENSP00000369912
Ensembl peptide - ENSP00000369919
Ensembl peptide - ENSP00000481398
Ensembl peptide - ENSP00000493936
Ensembl peptide - ENSP00000494161
Ensembl peptide - ENSP00000494217
Ensembl peptide - ENSP00000494453
Ensembl peptide - ENSP00000494650
Ensembl peptide - ENSP00000494783
Ensembl peptide - ENSP00000494930
Ensembl peptide - ENSP00000495086
Ensembl peptide - ENSP00000495361
Ensembl peptide - ENSP00000495362
Ensembl peptide - ENSP00000496073
Ensembl peptide - ENSP00000496225
Ensembl peptide - ENSP00000496341
NCBI entrez gene - 5269     See in Manteia.
OMIM - 173321
RefSeq - XM_011514676
RefSeq - XM_017010940
RefSeq - XM_017010941
RefSeq - NM_001195291
RefSeq - NM_001271822
RefSeq - NM_001271823
RefSeq - XM_011514672
RefSeq - XM_011514674
RefSeq - NM_001271824
RefSeq - NM_001271825
RefSeq - NM_001297699
RefSeq - NM_001297700
RefSeq - NM_004568
RefSeq - XM_011514673
RefSeq Peptide - NP_001258754
RefSeq Peptide - NP_001284628
RefSeq Peptide - NP_001284629
RefSeq Peptide - NP_004559
RefSeq Peptide - NP_001258752
RefSeq Peptide - NP_001258753
RefSeq Peptide - NP_001258751
RefSeq Peptide - NP_001182220
swissprot - A0A024QZX5
swissprot - A0A024QZX3
swissprot - P35237
swissprot - A0A087X1N8
Ensembl - ENSG00000124570
  
Related genetic diseases (OMIM): 613453 - ?Deafness, autosomal recessive 91, 613453
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
 serpinb14ENSDARG00000091801Danio rerio
 serpinb1l1ENSDARG00000095830Danio rerio
 serpinb1l3ENSDARG00000014556Danio rerio
 serpinb1l4ENSDARG00000096888Danio rerio
 zgc:173729ENSDARG00000057263Danio rerio
 SERPINB6LENSGALG00000012866Gallus gallus
 Q60854ENSMUSG00000060147Mus musculus
 Serpinb6bENSMUSG00000042842Mus musculus
 Serpinb6cENSMUSG00000052180Mus musculus
 Serpinb6dENSMUSG00000047889Mus musculus
 Serpinb6eENSMUSG00000069248Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P50452 / SERPINB8 / serpin family B member 8ENSG0000016640163
P50453 / SERPINB9 / serpin family B member 9ENSG0000017054260
P30740 / SERPINB1 / serpin family B member 1ENSG0000002135549
P05120 / SERPINB2 / serpin family B member 2ENSG0000019763248
P48594 / SERPINB4 / serpin family B member 4ENSG0000020607346
P29508 / SERPINB3 / serpin family B member 3ENSG0000005714945
P48595 / SERPINB10 / serpin family B member 10ENSG0000024255045
Q9UIV8 / SERPINB13 / serpin family B member 13ENSG0000019764142
P36952 / SERPINB5 / serpin family B member 5ENSG0000020607535


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IDA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0071470 cellular response to osmotic stress IMP
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 cellular_componentGO:0097180 serine protease inhibitor complex IDA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
Dissolution of Fibrin Clot


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:0001730 Progressive hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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