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Protein

Serpin B7

Gene

SERPINB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Sitei347 – 3482Reactive bondBy similarity

GO - Molecular functioni

  • serine-type endopeptidase inhibitor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Protease 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
ProteomesiUP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:13902. SERPINB7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MIMi615598. phenotype.
Orphaneti140966. Palmoplantar keratoderma, Nagashima type.
PharmGKBiPA37825.

Polymorphism and mutation databases

BioMutaiSERPINB7.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 380380Serpin B7PRO_0000094108Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei217 – 2171Phosphoserine1 Publication
Modified residuei223 – 2231Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75635.
PaxDbiO75635.
PRIDEiO75635.

PTM databases

PhosphoSiteiO75635.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO75635.
CleanExiHS_SERPINB7.
ExpressionAtlasiO75635. baseline and differential.
GenevestigatoriO75635.

Organism-specific databases

HPAiHPA024200.

Interactioni

Protein-protein interaction databases

BioGridi114252. 9 interactions.
STRINGi9606.ENSP00000337212.

Structurei

3D structure databases

ProteinModelPortaliO75635.
SMRiO75635. Positions 3-380.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG4826.
GeneTreeiENSGT00760000118789.
HOGENOMiHOG000238519.
HOVERGENiHBG005957.
InParanoidiO75635.
KOiK13964.
OMAiKINKWVE.
OrthoDBiEOG7GN2TH.
PhylomeDBiO75635.
TreeFamiTF352619.

Family and domain databases

InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00284. SERPIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti155 – 1551K → E in BAG62480 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti266 – 2661R → Q.
Corresponds to variant rs17782413 [ dbSNP | Ensembl ].
VAR_034512

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei57 – 7317Missing in isoform 2. 1 PublicationVSP_044711Add
BLAST

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]
XP_006722625.1. XM_006722562.1. [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

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]
XP_006722625.1. XM_006722562.1. [O75635-1]
UniGeneiHs.138202.
Hs.742388.

3D structure databases

ProteinModelPortaliO75635.
SMRiO75635. Positions 3-380.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114252. 9 interactions.
STRINGi9606.ENSP00000337212.

Protein family/group databases

MEROPSiI04.012.

PTM databases

PhosphoSiteiO75635.

Polymorphism and mutation databases

BioMutaiSERPINB7.

Proteomic databases

MaxQBiO75635.
PaxDbiO75635.
PRIDEiO75635.

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.
GeneCardsiGC18P061394.
HGNCiHGNC:13902. SERPINB7.
HPAiHPA024200.
MIMi603357. gene.
615598. phenotype.
neXtProtiNX_O75635.
Orphaneti140966. Palmoplantar keratoderma, Nagashima type.
PharmGKBiPA37825.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG4826.
GeneTreeiENSGT00760000118789.
HOGENOMiHOG000238519.
HOVERGENiHBG005957.
InParanoidiO75635.
KOiK13964.
OMAiKINKWVE.
OrthoDBiEOG7GN2TH.
PhylomeDBiO75635.
TreeFamiTF352619.

Miscellaneous databases

GeneWikiiSERPINB7.
GenomeRNAii8710.
NextBioi32665.
PROiO75635.
SOURCEiSearch...

Gene expression databases

BgeeiO75635.
CleanExiHS_SERPINB7.
ExpressionAtlasiO75635. baseline and differential.
GenevestigatoriO75635.

Family and domain databases

InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "A mesangium-predominant gene, megsin, is a new serpin upregulated in IgA nephropathy."
    Miyata T., Nangaku M., Suzuki D., Inagi R., Uragami K., Sakai H., Okubo K., Kurokawa K.
    J. Clin. Invest. 102:828-836(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Mesangial cell.
  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.
    , 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] (ISOFORM 2).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORM 1).
  6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217 AND SER-223, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN PPKN.

Entry informationi

Entry nameiSPB7_HUMAN
AccessioniPrimary (citable) accession number: O75635
Secondary accession number(s): B4DUW8
, F5GZC0, Q1ED45, Q3KPG4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 1, 1998
Last modified: April 29, 2015
This is version 120 of the entry and version 1 of the sequence. [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. Human chromosome 18
    Human chromosome 18: 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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.