Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Serpin B7

Gene

SERPINB7

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

Functioni

Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei347 – 348Reactive bondBy similarity2

GO - Molecular functioni

  • serine-type endopeptidase inhibitor activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor

Protein family/group databases

MEROPSiI04.012

Names & Taxonomyi

Protein namesi
Recommended name:
Serpin B7
Alternative name(s):
Megsin
TP55
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000166396.12
HGNCiHGNC:13902 SERPINB7
MIMi603357 gene
neXtProtiNX_O75635

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

Keratoderma, palmoplantar, Nagashima type (PPKN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive.
See also OMIM:615598

Keywords - Diseasei

Palmoplantar keratoderma

Organism-specific databases

DisGeNETi8710
MalaCardsiSERPINB7
MIMi615598 phenotype
OpenTargetsiENSG00000166396
Orphaneti140966 Palmoplantar keratoderma, Nagashima type
PharmGKBiPA37825

Polymorphism and mutation databases

BioMutaiSERPINB7

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000941081 – 380Serpin B7Add BLAST380

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei217PhosphoserineCombined sources1
Modified residuei223PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75635
PaxDbiO75635
PeptideAtlasiO75635
PRIDEiO75635
ProteomicsDBi50131

PTM databases

iPTMnetiO75635
PhosphoSitePlusiO75635

Expressioni

Tissue specificityi

Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body.1 Publication

Gene expression databases

BgeeiENSG00000166396 Expressed in 77 organ(s), highest expression level in skin of leg
CleanExiHS_SERPINB7
ExpressionAtlasiO75635 baseline and differential
GenevisibleiO75635 HS

Organism-specific databases

HPAiHPA024200

Interactioni

Protein-protein interaction databases

BioGridi114252, 16 interactors
STRINGi9606.ENSP00000337212

Structurei

3D structure databases

ProteinModelPortaliO75635
SMRiO75635
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000150820
HOGENOMiHOG000238519
HOVERGENiHBG005957
InParanoidiO75635
KOiK13964
OMAiYHGGISM
OrthoDBiEOG091G0ION
PhylomeDBiO75635
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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75635-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASLAAANAE FCFNLFREMD DNQGNGNVFF SSLSLFAALA LVRLGAQDDS
60 70 80 90 100
LSQIDKLLHV NTASGYGNSS NSQSGLQSQL KRVFSDINAS HKDYDLSIVN
110 120 130 140 150
GLFAEKVYGF HKDYIECAEK LYDAKVERVD FTNHLEDTRR NINKWVENET
160 170 180 190 200
HGKIKNVIGE GGISSSAVMV LVNAVYFKGK WQSAFTKSET INCHFKSPKC
210 220 230 240 250
SGKAVAMMHQ ERKFNLSVIE DPSMKILELR YNGGINMYVL LPENDLSEIE
260 270 280 290 300
NKLTFQNLME WTNPRRMTSK YVEVFFPQFK IEKNYEMKQY LRALGLKDIF
310 320 330 340 350
DESKADLSGI ASGGRLYISR MMHKSYIEVT EEGTEATAAT GSNIVEKQLP
360 370 380
QSTLFRADHP FLFVIRKDDI ILFSGKVSCP
Length:380
Mass (Da):42,905
Last modified:November 1, 1998 - v1
Checksum:i9A2CDB6C63CFF605
GO
Isoform 2 (identifier: O75635-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-73: Missing.

Note: No experimental confirmation available.
Show »
Length:363
Mass (Da):41,174
Checksum:i9E9C813FC804B165
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JM00C9JM00_HUMAN
Serpin B7
SERPINB7
164Annotation score:
C9JA68C9JA68_HUMAN
Serpin B7
SERPINB7
127Annotation score:
A0A1B0GX82A0A1B0GX82_HUMAN
Serpin B7
SERPINB7
128Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155K → E in BAG62480 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034512266R → Q. Corresponds to variant dbSNP:rs17782413Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04471157 – 73Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88575 mRNA Translation: BAA31232.1
AF027866 mRNA Translation: AAC64506.1
AK300828 mRNA Translation: BAG62480.1
AC069356 Genomic DNA No translation available.
AC072051 Genomic DNA No translation available.
BC069417 mRNA Translation: AAH69417.1
BC069442 mRNA Translation: AAH69442.1
BC069547 mRNA Translation: AAH69547.1
BC106743 mRNA Translation: AAI06744.1
BC106744 mRNA Translation: AAI06745.1
CCDSiCCDS11988.1 [O75635-1]
CCDS58633.1 [O75635-2]
RefSeqiNP_001035237.1, NM_001040147.2 [O75635-1]
NP_001248759.1, NM_001261830.1 [O75635-1]
NP_001248760.1, NM_001261831.1 [O75635-2]
NP_003775.1, NM_003784.3 [O75635-1]
UniGeneiHs.138202
Hs.742388

Genome annotation databases

EnsembliENST00000336429; ENSP00000337212; ENSG00000166396 [O75635-1]
ENST00000398019; ENSP00000381101; ENSG00000166396 [O75635-1]
ENST00000540675; ENSP00000444572; ENSG00000166396 [O75635-2]
ENST00000546027; ENSP00000444861; ENSG00000166396 [O75635-1]
GeneIDi8710
KEGGihsa:8710
UCSCiuc002ljl.4 human [O75635-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88575 mRNA Translation: BAA31232.1
AF027866 mRNA Translation: AAC64506.1
AK300828 mRNA Translation: BAG62480.1
AC069356 Genomic DNA No translation available.
AC072051 Genomic DNA No translation available.
BC069417 mRNA Translation: AAH69417.1
BC069442 mRNA Translation: AAH69442.1
BC069547 mRNA Translation: AAH69547.1
BC106743 mRNA Translation: AAI06744.1
BC106744 mRNA Translation: AAI06745.1
CCDSiCCDS11988.1 [O75635-1]
CCDS58633.1 [O75635-2]
RefSeqiNP_001035237.1, NM_001040147.2 [O75635-1]
NP_001248759.1, NM_001261830.1 [O75635-1]
NP_001248760.1, NM_001261831.1 [O75635-2]
NP_003775.1, NM_003784.3 [O75635-1]
UniGeneiHs.138202
Hs.742388

3D structure databases

ProteinModelPortaliO75635
SMRiO75635
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114252, 16 interactors
STRINGi9606.ENSP00000337212

Protein family/group databases

MEROPSiI04.012

PTM databases

iPTMnetiO75635
PhosphoSitePlusiO75635

Polymorphism and mutation databases

BioMutaiSERPINB7

Proteomic databases

MaxQBiO75635
PaxDbiO75635
PeptideAtlasiO75635
PRIDEiO75635
ProteomicsDBi50131

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336429; ENSP00000337212; ENSG00000166396 [O75635-1]
ENST00000398019; ENSP00000381101; ENSG00000166396 [O75635-1]
ENST00000540675; ENSP00000444572; ENSG00000166396 [O75635-2]
ENST00000546027; ENSP00000444861; ENSG00000166396 [O75635-1]
GeneIDi8710
KEGGihsa:8710
UCSCiuc002ljl.4 human [O75635-1]

Organism-specific databases

CTDi8710
DisGeNETi8710
EuPathDBiHostDB:ENSG00000166396.12
GeneCardsiSERPINB7
HGNCiHGNC:13902 SERPINB7
HPAiHPA024200
MalaCardsiSERPINB7
MIMi603357 gene
615598 phenotype
neXtProtiNX_O75635
OpenTargetsiENSG00000166396
Orphaneti140966 Palmoplantar keratoderma, Nagashima type
PharmGKBiPA37825
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000150820
HOGENOMiHOG000238519
HOVERGENiHBG005957
InParanoidiO75635
KOiK13964
OMAiYHGGISM
OrthoDBiEOG091G0ION
PhylomeDBiO75635
TreeFamiTF352619

Miscellaneous databases

GeneWikiiSERPINB7
GenomeRNAii8710
PROiPR:O75635
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166396 Expressed in 77 organ(s), highest expression level in skin of leg
CleanExiHS_SERPINB7
ExpressionAtlasiO75635 baseline and differential
GenevisibleiO75635 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiSPB7_HUMAN
AccessioniPrimary (citable) accession number: O75635
Secondary accession number(s): B4DUW8
, F5GZC0, Q1ED45, Q3KPG4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 146 of the entry and version 1 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, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again