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Protein

Serpin B6

Gene

SERPINB6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.By similarity5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei341 – 342Reactive bond2

GO - Molecular functioni

  • protease binding Source: UniProtKB
  • serine-type endopeptidase inhibitor activity Source: BHF-UCL

GO - Biological processi

  • cellular response to osmotic stress Source: UniProtKB
  • negative regulation of endopeptidase activity Source: BHF-UCL
  • neutrophil degranulation Source: Reactome
  • sensory perception of sound Source: UniProtKB

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-75205. Dissolution of Fibrin Clot.

Protein family/group databases

MEROPSiI04.011.

Names & Taxonomyi

Protein namesi
Recommended name:
Serpin B6
Alternative name(s):
Cytoplasmic antiproteinase
Short name:
CAP
Peptidase inhibitor 6
Short name:
PI-6
Placental thrombin inhibitor
Gene namesi
Name:SERPINB6
Synonyms:PI6, PTI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000124570.17.
HGNCiHGNC:8950. SERPINB6.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 91 (DFNB91)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal.
See also OMIM:613453

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi5269.
MalaCardsiSERPINB6.
MIMi613453. phenotype.
OpenTargetsiENSG00000124570.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA35516.

Chemistry databases

DrugBankiDB00055. Drotrecogin alfa.

Polymorphism and mutation databases

BioMutaiSERPINB6.
DMDMi161784343.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000941061 – 376Serpin B6Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei195N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP35237.
MaxQBiP35237.
PaxDbiP35237.
PeptideAtlasiP35237.
PRIDEiP35237.

2D gel databases

OGPiP35237.

PTM databases

iPTMnetiP35237.
PhosphoSitePlusiP35237.
SwissPalmiP35237.

Expressioni

Tissue specificityi

Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cells in different tissues and by mast cells in mastocytoma lesions.3 Publications

Gene expression databases

BgeeiENSG00000124570.
CleanExiHS_SERPINB6.
ExpressionAtlasiP35237. baseline and differential.
GenevisibleiP35237. HS.

Organism-specific databases

HPAiHPA009668.
HPA012736.

Interactioni

Subunit structurei

Forms a complex with the monomeric form of beta-tryptase.

GO - Molecular functioni

  • protease binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111287. 14 interactors.
IntActiP35237. 1 interactor.
MINTiMINT-5005332.
STRINGi9606.ENSP00000338358.

Structurei

3D structure databases

ProteinModelPortaliP35237.
SMRiP35237.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the serpin family. Ov-serpin subfamily.Curated

Phylogenomic databases

eggNOGiKOG2392. Eukaryota.
COG4826. LUCA.
GeneTreeiENSGT00760000118789.
HOGENOMiHOG000238519.
HOVERGENiHBG005957.
InParanoidiP35237.
KOiK13963.
PhylomeDBiP35237.
TreeFamiTF352619.

Family and domain databases

InterProiView protein in InterPro
IPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
IPR036186. Serpin_sf.
PANTHERiPTHR11461. PTHR11461. 1 hit.
PfamiView protein in Pfam
PF00079. Serpin. 1 hit.
SMARTiView protein in SMART
SM00093. SERPIN. 1 hit.
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiView protein in PROSITE
PS00284. SERPIN. 1 hit.

Sequencei

Sequence statusi: Complete.

P35237-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDVLAEANGT FALNLLKTLG KDNSKNVFFS PMSMSCALAM VYMGAKGNTA
60 70 80 90 100
AQMAQILSFN KSGGGGDIHQ GFQSLLTEVN KTGTQYLLRM ANRLFGEKSC
110 120 130 140 150
DFLSSFRDSC QKFYQAEMEE LDFISAVEKS RKHINTWVAE KTEGKIAELL
160 170 180 190 200
SPGSVDPLTR LVLVNAVYFR GNWDEQFDKE NTEERLFKVS KNEEKPVQMM
210 220 230 240 250
FKQSTFKKTY IGEIFTQILV LPYVGKELNM IIMLPDETTD LRTVEKELTY
260 270 280 290 300
EKFVEWTRLD MMDEEEVEVS LPRFKLEESY DMESVLRNLG MTDAFELGKA
310 320 330 340 350
DFSGMSQTDL SLSKVVHKSF VEVNEEGTEA AAATAAIMMM RCARFVPRFC
360 370
ADHPFLFFIQ HSKTNGILFC GRFSSP
Length:376
Mass (Da):42,622
Last modified:December 4, 2007 - v3
Checksum:i3A06BC26A7510E1A
GO

Sequence cautioni

P35237: The sequence BAD92800 differs from that shown. Reason: Erroneous initiation.Curated
P35237: The sequence CAD98106 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti175E → G in CAA80373 (PubMed:8415716).Curated1
Sequence conflicti200M → V in BAG37155 (PubMed:14702039).Curated1
Sequence conflicti362S → R in CAA80373 (PubMed:8415716).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03729590M → V4 PublicationsCorresponds to variant dbSNP:rs2295769Ensembl.1
Natural variantiVAR_037296153G → S. Corresponds to variant dbSNP:rs2295766Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z22658 mRNA. Translation: CAA80373.1.
S69272 mRNA. Translation: AAB30320.1.
AK314578 mRNA. Translation: BAG37155.1.
BX538343 mRNA. Translation: CAD98106.1. Different initiation.
AL133351 Genomic DNA. No translation available.
CH471087 Genomic DNA. Translation: EAW55097.1.
BC001394 mRNA. Translation: AAH01394.1.
BC098564 mRNA. Translation: AAH98564.1.
AB209563 mRNA. Translation: BAD92800.1. Different initiation.
CCDSiCCDS4479.1.
PIRiA48681.
RefSeqiNP_001182220.2. NM_001195291.2.
NP_001258751.1. NM_001271822.1.
NP_001258752.1. NM_001271823.1.
NP_001258753.1. NM_001271824.1.
NP_001258754.1. NM_001271825.1.
NP_001284628.1. NM_001297699.1.
NP_001284629.1. NM_001297700.1.
NP_004559.4. NM_004568.5.
XP_011512975.1. XM_011514673.1.
XP_011512976.1. XM_011514674.2.
UniGeneiHs.519523.
Hs.731506.

Genome annotation databases

EnsembliENST00000335686; ENSP00000338358; ENSG00000124570.
ENST00000380520; ENSP00000369891; ENSG00000124570.
ENST00000380524; ENSP00000369896; ENSG00000124570.
ENST00000380529; ENSP00000369901; ENSG00000124570.
ENST00000380539; ENSP00000369912; ENSG00000124570.
ENST00000380546; ENSP00000369919; ENSG00000124570.
GeneIDi5269.
KEGGihsa:5269.
UCSCiuc003muk.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPB6_HUMAN
AccessioniPrimary (citable) accession number: P35237
Secondary accession number(s): B2RBA8
, Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: December 4, 2007
Last modified: October 25, 2017
This is version 171 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families