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P35237 (SPB6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Serpin B6
Alternative name(s):
Cytoplasmic antiproteinase
Short name=CAP
Peptidase inhibitor 6
Short name=PI-6
Placental thrombin inhibitor
Gene names
Name:SERPINB6
Synonyms:PI6, PTI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length376 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.2 Ref.10 Ref.12 Ref.14

Subunit structure

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

Subcellular location

Cytoplasm Ref.9 Ref.11 Ref.12 Ref.14.

Tissue specificity

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. Ref.11 Ref.12 Ref.14

Involvement in disease

Deafness, autosomal recessive, 91 (DFNB91) [MIM:613453]: A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Sequence similarities

Belongs to the serpin family. Ov-serpin subfamily.

Sequence caution

The sequence BAD92800.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAD98106.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 376376Serpin B6
PRO_0000094106

Sites

Site341 – 3422Reactive bond

Amino acid modifications

Modified residue11N-acetylmethionine
Modified residue1951N6-acetyllysine By similarity

Natural variations

Natural variant901M → V. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs2295769 [ dbSNP | Ensembl ].
VAR_037295
Natural variant1531G → S.
Corresponds to variant rs2295766 [ dbSNP | Ensembl ].
VAR_037296

Experimental info

Sequence conflict1751E → G in CAA80373. Ref.1
Sequence conflict2001M → V in BAG37155. Ref.3
Sequence conflict3621S → R in CAA80373. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P35237 [UniParc].

Last modified December 4, 2007. Version 3.
Checksum: 3A06BC26A7510E1A

FASTA37642,622
        10         20         30         40         50         60 
MDVLAEANGT FALNLLKTLG KDNSKNVFFS PMSMSCALAM VYMGAKGNTA AQMAQILSFN 

        70         80         90        100        110        120 
KSGGGGDIHQ GFQSLLTEVN KTGTQYLLRM ANRLFGEKSC DFLSSFRDSC QKFYQAEMEE 

       130        140        150        160        170        180 
LDFISAVEKS RKHINTWVAE KTEGKIAELL SPGSVDPLTR LVLVNAVYFR GNWDEQFDKE 

       190        200        210        220        230        240 
NTEERLFKVS KNEEKPVQMM FKQSTFKKTY IGEIFTQILV LPYVGKELNM IIMLPDETTD 

       250        260        270        280        290        300 
LRTVEKELTY EKFVEWTRLD MMDEEEVEVS LPRFKLEESY DMESVLRNLG MTDAFELGKA 

       310        320        330        340        350        360 
DFSGMSQTDL SLSKVVHKSF VEVNEEGTEA AAATAAIMMM RCARFVPRFC ADHPFLFFIQ 

       370 
HSKTNGILFC GRFSSP 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and molecular characterization of a human intracellular serine proteinase inhibitor."
Coughlin P., Sun J., Cerruti L., Salem H.H., Bird P.
Proc. Natl. Acad. Sci. U.S.A. 90:9417-9421(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-90, FUNCTION.
Tissue: Placenta.
[2]"Complementary DNA cloning and kinetic characterization of a novel intracellular serine proteinase inhibitor: mechanism of action with trypsin and factor Xa as model proteinases."
Morgenstern K.A., Sprecher C.A., Holth L., Foster D., Grant F.J., Ching A., Kisiel W.
Biochemistry 33:3432-3441(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 67-73 AND 144-149, VARIANT VAL-90, FUNCTION.
Tissue: Placenta.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-90.
Tissue: Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-90.
Tissue: Small intestine.
[5]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Chondrosarcoma and Colon.
[8]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-372.
Tissue: Brain.
[9]"Identification and purification of a novel serine proteinase inhibitor."
Coughlin P.B., Tetaz T., Salem H.H.
J. Biol. Chem. 268:9541-9547(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 47-60; 63-81 AND 91-98, SUBCELLULAR LOCATION.
Tissue: Leukemia.
[10]"The intracellular serpin proteinase inhibitor 6 is expressed in monocytes and granulocytes and is a potent inhibitor of the azurophilic granule protease, cathepsin G."
Scott F.L., Hirst C.E., Sun J., Bird C.H., Bottomley S.P., Bird P.I.
Blood 93:2089-2097(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers."
Strik M.C., Wolbink A., Wouters D., Bladergroen B.A., Verlaan A.R., van Houdt I.S., Hijlkema S., Hack C.E., Kummer J.A.
Blood 103:2710-2717(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, COMPLEX FORMATION WITH BETA-TRYPTASE.
[12]"SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes."
Scott F.L., Sun J., Whisstock J.C., Kato K., Bird P.I.
J. Biochem. 142:435-442(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[13]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss."
Sirmaci A., Erbek S., Price J., Huang M., Duman D., Cengiz F.B., Bademci G., Tokgoz-Yilmaz S., Hismi B., Ozdag H., Ozturk B., Kulaksizoglu S., Yildirim E., Kokotas H., Grigoriadou M., Petersen M.B., Shahin H., Kanaan M. expand/collapse author list , King M.C., Chen Z.Y., Blanton S.H., Liu X.Z., Zuchner S., Akar N., Tekin M.
Am. J. Hum. Genet. 86:797-804(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB91, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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. Translation: CAI23292.1.
CH471087 Genomic DNA. Translation: EAW55097.1.
BC001394 mRNA. Translation: AAH01394.1.
BC098564 mRNA. Translation: AAH98564.1.
AB209563 mRNA. Translation: BAD92800.1. Different initiation.
PIRA48681.
RefSeqNP_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_004559.4. NM_004568.5.
XP_005249239.1. XM_005249182.1.
UniGeneHs.519523.
Hs.731506.

3D structure databases

ProteinModelPortalP35237.
SMRP35237. Positions 1-376.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111287. 6 interactions.
IntActP35237. 1 interaction.
MINTMINT-5005332.
STRING9606.ENSP00000338358.

Chemistry

DrugBankDB00055. Drotrecogin alfa.

Protein family/group databases

MEROPSI04.011.

PTM databases

PhosphoSiteP35237.

Polymorphism databases

DMDM161784343.

2D gel databases

OGPP35237.

Proteomic databases

PaxDbP35237.
PRIDEP35237.

Protocols and materials databases

DNASU5269.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000335686; ENSP00000338358; ENSG00000124570.
ENST00000380520; ENSP00000369891; ENSG00000124570.
ENST00000380524; ENSP00000369896; ENSG00000124570.
ENST00000380529; ENSP00000369901; ENSG00000124570.
ENST00000380539; ENSP00000369912; ENSG00000124570.
ENST00000380546; ENSP00000369919; ENSG00000124570.
GeneID5269.
KEGGhsa:5269.
UCSCuc003muk.3. human.

Organism-specific databases

CTD5269.
GeneCardsGC06M002948.
H-InvDBHIX0005534.
HGNCHGNC:8950. SERPINB6.
HPAHPA009668.
HPA012736.
MIM173321. gene.
613453. phenotype.
neXtProtNX_P35237.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA35516.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4826.
HOGENOMHOG000238519.
HOVERGENHBG005957.
InParanoidP35237.
KOK13963.
OMAIEWTRPD.
OrthoDBEOG7327PB.
PhylomeDBP35237.
TreeFamTF352619.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressP35237.
BgeeP35237.
CleanExHS_SERPINB6.
GenevestigatorP35237.

Family and domain databases

InterProIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERPTHR11461. PTHR11461. 1 hit.
PfamPF00079. Serpin. 1 hit.
[Graphical view]
SMARTSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMSSF56574. SSF56574. 1 hit.
PROSITEPS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSERPINB6. human.
GeneWikiSERPINB6.
GenomeRNAi5269.
NextBio20356.
PROP35237.
SOURCESearch...

Entry information

Entry nameSPB6_HUMAN
AccessionPrimary (citable) accession number: P35237
Secondary accession number(s): B2RBA8 expand/collapse secondary AC list , Q59F97, Q5TD06, Q7Z2Y7, Q96J44, Q9UDI7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: December 4, 2007
Last modified: March 19, 2014
This is version 138 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM