ENSG00000166401


Homo sapiens

Features
Gene ID: ENSG00000166401
  
Biological name :SERPINB8
  
Synonyms : P50452 / SERPINB8 / serpin family B member 8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q22.1
Gene start: 63969925
Gene end: 64019779
  
Corresponding Affymetrix probe sets: 1554616_at (Human Genome U133 Plus 2.0 Array)   206034_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000381075
Ensembl peptide - ENSP00000381072
Ensembl peptide - ENSP00000393456
Ensembl peptide - ENSP00000489949
Ensembl peptide - ENSP00000478199
Ensembl peptide - ENSP00000438328
Ensembl peptide - ENSP00000414580
Ensembl peptide - ENSP00000295211
Ensembl peptide - ENSP00000331368
NCBI entrez gene - 5271     See in Manteia.
OMIM - 601697
RefSeq - XM_017025792
RefSeq - NM_001031848
RefSeq - NM_001276490
RefSeq - NM_001348367
RefSeq - NM_002640
RefSeq - NM_198833
RefSeq - XM_006722484
RefSeq - XM_011526025
RefSeq - XM_017025790
RefSeq - XM_017025791
RefSeq Peptide - NP_001027018
RefSeq Peptide - NP_001335296
RefSeq Peptide - NP_002631
RefSeq Peptide - NP_942130
RefSeq Peptide - NP_001263419
swissprot - H7BXK7
swissprot - A0A024R2B1
swissprot - P50452
swissprot - C9JVA8
swissprot - C9JTJ8
swissprot - A0A1B0GU38
swissprot - A0A087WTX6
Ensembl - ENSG00000166401
  
Related genetic diseases (OMIM): 617115 - Peeling skin syndrome 5, 617115
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
 O08800ENSMUSG00000026315Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P35237 / SERPINB6 / serpin family B member 6ENSG0000012457067
P50453 / SERPINB9 / serpin family B member 9ENSG0000017054262
P30740 / SERPINB1 / serpin family B member 1ENSG0000002135553
P05120 / SERPINB2 / serpin family B member 2ENSG0000019763248
P48595 / SERPINB10 / serpin family B member 10ENSG0000024255047
P48594 / SERPINB4 / serpin family B member 4ENSG0000020607346
P29508 / SERPINB3 / serpin family B member 3ENSG0000005714945
Q9UIV8 / SERPINB13 / serpin family B member 13ENSG0000019764141
P36952 / SERPINB5 / serpin family B member 5ENSG0000020607537


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:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IDA
 biological_processGO:0090136 epithelial cell-cell adhesion IMP
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
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]
Show

 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
Show

 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr