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O75635 (SPB7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Serpin B7
Alternative name(s):
Megsin
TP55
Gene names
Name:SERPINB7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length380 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasm By similarity.

Tissue specificity

Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body. Ref.7

Involvement in disease

Keratoderma, palmoplantar, Nagashima type (PPKN) [MIM:615598]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the serpin family. Ov-serpin subfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75635-1)

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.
Isoform 2 (identifier: O75635-2)

The sequence of this isoform differs from the canonical sequence as follows:
     57-73: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 380380Serpin B7
PRO_0000094108

Sites

Site347 – 3482Reactive bond By similarity

Amino acid modifications

Modified residue2171Phosphoserine Ref.6
Modified residue2231Phosphoserine Ref.6

Natural variations

Alternative sequence57 – 7317Missing in isoform 2.
VSP_044711
Natural variant2661R → Q.
Corresponds to variant rs17782413 [ dbSNP | Ensembl ].
VAR_034512

Experimental info

Sequence conflict1551K → E in BAG62480. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 9A2CDB6C63CFF605

FASTA38042,905
        10         20         30         40         50         60 
MASLAAANAE FCFNLFREMD DNQGNGNVFF SSLSLFAALA LVRLGAQDDS LSQIDKLLHV 

        70         80         90        100        110        120 
NTASGYGNSS NSQSGLQSQL KRVFSDINAS HKDYDLSIVN GLFAEKVYGF HKDYIECAEK 

       130        140        150        160        170        180 
LYDAKVERVD FTNHLEDTRR NINKWVENET HGKIKNVIGE GGISSSAVMV LVNAVYFKGK 

       190        200        210        220        230        240 
WQSAFTKSET INCHFKSPKC SGKAVAMMHQ ERKFNLSVIE DPSMKILELR YNGGINMYVL 

       250        260        270        280        290        300 
LPENDLSEIE NKLTFQNLME WTNPRRMTSK YVEVFFPQFK IEKNYEMKQY LRALGLKDIF 

       310        320        330        340        350        360 
DESKADLSGI ASGGRLYISR MMHKSYIEVT EEGTEATAAT GSNIVEKQLP QSTLFRADHP 

       370        380 
FLFVIRKDDI ILFSGKVSCP 

« Hide

Isoform 2 [UniParc].

Checksum: 9E9C813FC804B165
Show »

FASTA36341,174

References

« Hide 'large scale' references
[1]"Purification, cDNA cloning, and characterization of a new serpin with megakaryocyte maturation activity."
Tsujimoto M., Tsuruoka N., Ishida N., Kurihara T., Iwasa F., Yamashiro K., Rogi T., Kodama S., Katsuragi N., Adachi M., Katayama T., Nakao M., Yamaichi K., Hashino J., Haruyama M., Miura K., Nakanishi T., Nakazato H. expand/collapse author list , Teramura M., Mizoguchi H., Yamaguchi N.
J. Biol. Chem. 272:15373-15380(1997) [PubMed] [Europe PMC] [Abstract]
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. 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] (ISOFORM 2).
[4]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
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]"Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis."
Kubo A., Shiohama A., Sasaki T., Nakabayashi K., Kawasaki H., Atsugi T., Sato S., Shimizu A., Mikami S., Tanizaki H., Uchiyama M., Maeda T., Ito T., Sakabe J., Heike T., Okuyama T., Kosaki R., Kosaki K. expand/collapse author list , Kudoh J., Hata K., Umezawa A., Tokura Y., Ishiko A., Niizeki H., Kabashima K., Mitsuhashi Y., Amagai M.
Am. J. Hum. Genet. 93:945-956(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN PPKN.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11988.1. [O75635-1]
CCDS58633.1. [O75635-2]
RefSeqNP_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]
UniGeneHs.138202.
Hs.742388.

3D structure databases

ProteinModelPortalO75635.
SMRO75635. Positions 3-380.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000337212.

Protein family/group databases

MEROPSI04.012.

PTM databases

PhosphoSiteO75635.

Proteomic databases

MaxQBO75635.
PaxDbO75635.
PRIDEO75635.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336429; ENSP00000337212; ENSG00000166396. [O75635-1]
ENST00000398019; ENSP00000381101; ENSG00000166396. [O75635-1]
ENST00000540675; ENSP00000444572; ENSG00000166396. [O75635-2]
ENST00000546027; ENSP00000444861; ENSG00000166396. [O75635-1]
GeneID8710.
KEGGhsa:8710.
UCSCuc002ljl.4. human. [O75635-1]

Organism-specific databases

CTD8710.
GeneCardsGC18P061394.
HGNCHGNC:13902. SERPINB7.
HPAHPA024200.
MIM603357. gene.
615598. phenotype.
neXtProtNX_O75635.
Orphanet140966. Palmoplantar keratoderma, Nagashima type.
PharmGKBPA37825.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4826.
HOGENOMHOG000238519.
HOVERGENHBG005957.
InParanoidO75635.
KOK13964.
OMAYIMLPEN.
OrthoDBEOG7GN2TH.
PhylomeDBO75635.
TreeFamTF352619.

Gene expression databases

ArrayExpressO75635.
BgeeO75635.
CleanExHS_SERPINB7.
GenevestigatorO75635.

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

GeneWikiSERPINB7.
GenomeRNAi8710.
NextBio32665.
PROO75635.
SOURCESearch...

Entry information

Entry nameSPB7_HUMAN
AccessionPrimary (citable) accession number: O75635
Secondary accession number(s): B4DUW8 expand/collapse secondary AC list , F5GZC0, Q1ED45, Q3KPG4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 114 of the entry and version 1 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 18

Human chromosome 18: entries, gene names and cross-references to MIM