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O75635

- SPB7_HUMAN

UniProt

O75635 - SPB7_HUMAN

Protein

Serpin B7

Gene

SERPINB7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    1. serine-type endopeptidase inhibitor activity Source: RefGenome

    GO - Biological processi

    1. negative regulation of endopeptidase activity Source: RefGenome
    2. positive regulation of collagen biosynthetic process Source: Ensembl
    3. positive regulation of glomerular mesangial cell proliferation Source: Ensembl
    4. positive regulation of platelet-derived growth factor production Source: Ensembl
    5. positive regulation of transforming growth factor beta1 production Source: Ensembl
    6. regulation of proteolysis Source: RefGenome

    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: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:13902. SERPINB7.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular space Source: InterPro

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Palmoplantar keratoderma

    Organism-specific databases

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

    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

    ArrayExpressiO75635.
    BgeeiO75635.
    CleanExiHS_SERPINB7.
    GenevestigatoriO75635.

    Organism-specific databases

    HPAiHPA024200.

    Interactioni

    Protein-protein interaction databases

    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.
    HOGENOMiHOG000238519.
    HOVERGENiHBG005957.
    InParanoidiO75635.
    KOiK13964.
    OMAiYIMLPEN.
    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. Align

    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

    MASLAAANAE FCFNLFREMD DNQGNGNVFF SSLSLFAALA LVRLGAQDDS    50
    LSQIDKLLHV NTASGYGNSS NSQSGLQSQL KRVFSDINAS HKDYDLSIVN 100
    GLFAEKVYGF HKDYIECAEK LYDAKVERVD FTNHLEDTRR NINKWVENET 150
    HGKIKNVIGE GGISSSAVMV LVNAVYFKGK WQSAFTKSET INCHFKSPKC 200
    SGKAVAMMHQ ERKFNLSVIE DPSMKILELR YNGGINMYVL LPENDLSEIE 250
    NKLTFQNLME WTNPRRMTSK YVEVFFPQFK IEKNYEMKQY LRALGLKDIF 300
    DESKADLSGI ASGGRLYISR MMHKSYIEVT EEGTEATAAT GSNIVEKQLP 350
    QSTLFRADHP FLFVIRKDDI ILFSGKVSCP 380
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11988.1. [O75635-1 ]
    CCDS58633.1. [O75635-2 ]
    RefSeqi NP_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 ]
    UniGenei Hs.138202.
    Hs.742388.

    3D structure databases

    ProteinModelPortali O75635.
    SMRi O75635. Positions 3-380.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000337212.

    Protein family/group databases

    MEROPSi I04.012.

    PTM databases

    PhosphoSitei O75635.

    Proteomic databases

    MaxQBi O75635.
    PaxDbi O75635.
    PRIDEi O75635.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336429 ; ENSP00000337212 ; ENSG00000166396 . [O75635-1 ]
    ENST00000398019 ; ENSP00000381101 ; ENSG00000166396 . [O75635-1 ]
    ENST00000540675 ; ENSP00000444572 ; ENSG00000166396 . [O75635-2 ]
    ENST00000546027 ; ENSP00000444861 ; ENSG00000166396 . [O75635-1 ]
    GeneIDi 8710.
    KEGGi hsa:8710.
    UCSCi uc002ljl.4. human. [O75635-1 ]

    Organism-specific databases

    CTDi 8710.
    GeneCardsi GC18P061394.
    HGNCi HGNC:13902. SERPINB7.
    HPAi HPA024200.
    MIMi 603357. gene.
    615598. phenotype.
    neXtProti NX_O75635.
    Orphaneti 140966. Palmoplantar keratoderma, Nagashima type.
    PharmGKBi PA37825.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4826.
    HOGENOMi HOG000238519.
    HOVERGENi HBG005957.
    InParanoidi O75635.
    KOi K13964.
    OMAi YIMLPEN.
    OrthoDBi EOG7GN2TH.
    PhylomeDBi O75635.
    TreeFami TF352619.

    Miscellaneous databases

    GeneWikii SERPINB7.
    GenomeRNAii 8710.
    NextBioi 32665.
    PROi O75635.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75635.
    Bgeei O75635.
    CleanExi HS_SERPINB7.
    Genevestigatori O75635.

    Family and domain databases

    InterProi IPR023795. Serpin_CS.
    IPR023796. Serpin_dom.
    IPR000215. Serpin_fam.
    [Graphical view ]
    PANTHERi PTHR11461. PTHR11461. 1 hit.
    Pfami PF00079. Serpin. 1 hit.
    [Graphical view ]
    SMARTi SM00093. SERPIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56574. SSF56574. 1 hit.
    PROSITEi PS00284. SERPIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 115 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