SPB7_HUMAN
ID SPB7_HUMAN Reviewed; 380 AA.
AC O75635; B4DUW8; F5GZC0; Q1ED45; Q3KPG4;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Serpin B7;
DE AltName: Full=Megsin;
DE AltName: Full=TP55;
GN Name=SERPINB7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9182567; DOI=10.1074/jbc.272.24.15373;
RA Tsujimoto M., Tsuruoka N., Ishida N., Kurihara T., Iwasa F., Yamashiro K.,
RA Rogi T., Kodama S., Katsuragi N., Adachi M., Katayama T., Nakao M.,
RA Yamaichi K., Hashino J., Haruyama M., Miura K., Nakanishi T., Nakazato H.,
RA Teramura M., Mizoguchi H., Yamaguchi N.;
RT "Purification, cDNA cloning, and characterization of a new serpin with
RT megakaryocyte maturation activity.";
RL J. Biol. Chem. 272:15373-15380(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Mesangial cell;
RX PubMed=9710452; DOI=10.1172/jci2450;
RA Miyata T., Nangaku M., Suzuki D., Inagi R., Uragami K., Sakai H., Okubo K.,
RA Kurokawa K.;
RT "A mesangium-predominant gene, megsin, is a new serpin upregulated in IgA
RT nephropathy.";
RL J. Clin. Invest. 102:828-836(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217 AND SER-223, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP TISSUE SPECIFICITY, AND INVOLVEMENT IN PPKN.
RX PubMed=24207119; DOI=10.1016/j.ajhg.2013.09.015;
RA Kubo A., Shiohama A., Sasaki T., Nakabayashi K., Kawasaki H., Atsugi T.,
RA Sato S., Shimizu A., Mikami S., Tanizaki H., Uchiyama M., Maeda T., Ito T.,
RA Sakabe J., Heike T., Okuyama T., Kosaki R., Kosaki K., Kudoh J., Hata K.,
RA Umezawa A., Tokura Y., Ishiko A., Niizeki H., Kabashima K., Mitsuhashi Y.,
RA Amagai M.;
RT "Mutations in SERPINB7, encoding a member of the serine protease inhibitor
RT superfamily, cause Nagashima-type palmoplantar keratosis.";
RL Am. J. Hum. Genet. 93:945-956(2013).
CC -!- FUNCTION: Might function as an inhibitor of Lys-specific proteases.
CC Might influence the maturation of megakaryocytes via its action as a
CC serpin.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75635-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75635-2; Sequence=VSP_044711;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in mesangial cells.
CC Expressed in the epidermis of the whole body.
CC {ECO:0000269|PubMed:24207119}.
CC -!- DISEASE: Keratoderma, palmoplantar, Nagashima type (PPKN) [MIM:615598]:
CC An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis
CC characterized by well-demarcated diffuse erythematous hyperkeratosis
CC expanding onto the dorsal surfaces of the palms and feet and the
CC Achilles tendon area. Hyperkeratosis is mild and non-progressive.
CC {ECO:0000269|PubMed:24207119}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the serpin family. Ov-serpin subfamily.
CC {ECO:0000305}.
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DR EMBL; D88575; BAA31232.1; -; mRNA.
DR EMBL; AF027866; AAC64506.1; -; mRNA.
DR EMBL; AK300828; BAG62480.1; -; mRNA.
DR EMBL; AC069356; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC072051; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069417; AAH69417.1; -; mRNA.
DR EMBL; BC069442; AAH69442.1; -; mRNA.
DR EMBL; BC069547; AAH69547.1; -; mRNA.
DR EMBL; BC106743; AAI06744.1; -; mRNA.
DR EMBL; BC106744; AAI06745.1; -; mRNA.
DR CCDS; CCDS11988.1; -. [O75635-1]
DR CCDS; CCDS58633.1; -. [O75635-2]
DR RefSeq; NP_001035237.1; NM_001040147.2. [O75635-1]
DR RefSeq; NP_001248759.1; NM_001261830.1. [O75635-1]
DR RefSeq; NP_001248760.1; NM_001261831.1. [O75635-2]
DR RefSeq; NP_003775.1; NM_003784.3. [O75635-1]
DR AlphaFoldDB; O75635; -.
DR SMR; O75635; -.
DR BioGRID; 114252; 96.
DR IntAct; O75635; 12.
DR STRING; 9606.ENSP00000381101; -.
DR MEROPS; I04.012; -.
DR GlyGen; O75635; 5 sites, 1 O-linked glycan (1 site).
DR iPTMnet; O75635; -.
DR PhosphoSitePlus; O75635; -.
DR BioMuta; SERPINB7; -.
DR EPD; O75635; -.
DR jPOST; O75635; -.
DR MassIVE; O75635; -.
DR MaxQB; O75635; -.
DR PaxDb; O75635; -.
DR PeptideAtlas; O75635; -.
DR PRIDE; O75635; -.
DR ProteomicsDB; 24990; -.
DR ProteomicsDB; 50131; -. [O75635-1]
DR Antibodypedia; 10160; 186 antibodies from 26 providers.
DR DNASU; 8710; -.
DR Ensembl; ENST00000336429.6; ENSP00000337212.2; ENSG00000166396.13. [O75635-1]
DR Ensembl; ENST00000398019.7; ENSP00000381101.2; ENSG00000166396.13. [O75635-1]
DR Ensembl; ENST00000540675.5; ENSP00000444572.1; ENSG00000166396.13. [O75635-2]
DR Ensembl; ENST00000546027.5; ENSP00000444861.1; ENSG00000166396.13. [O75635-1]
DR GeneID; 8710; -.
DR KEGG; hsa:8710; -.
DR MANE-Select; ENST00000398019.7; ENSP00000381101.2; NM_003784.4; NP_003775.1.
DR UCSC; uc002ljl.4; human. [O75635-1]
DR CTD; 8710; -.
DR DisGeNET; 8710; -.
DR GeneCards; SERPINB7; -.
DR HGNC; HGNC:13902; SERPINB7.
DR HPA; ENSG00000166396; Group enriched (lymphoid tissue, skin).
DR MalaCards; SERPINB7; -.
DR MIM; 603357; gene.
DR MIM; 615598; phenotype.
DR neXtProt; NX_O75635; -.
DR OpenTargets; ENSG00000166396; -.
DR Orphanet; 140966; Palmoplantar keratoderma, Nagashima type.
DR PharmGKB; PA37825; -.
DR VEuPathDB; HostDB:ENSG00000166396; -.
DR eggNOG; KOG2392; Eukaryota.
DR GeneTree; ENSGT00940000161520; -.
DR HOGENOM; CLU_023330_0_2_1; -.
DR InParanoid; O75635; -.
DR OMA; FREMDNN; -.
DR OrthoDB; 1124079at2759; -.
DR PhylomeDB; O75635; -.
DR TreeFam; TF352619; -.
DR PathwayCommons; O75635; -.
DR SignaLink; O75635; -.
DR BioGRID-ORCS; 8710; 8 hits in 1069 CRISPR screens.
DR GeneWiki; SERPINB7; -.
DR GenomeRNAi; 8710; -.
DR Pharos; O75635; Tbio.
DR PRO; PR:O75635; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; O75635; protein.
DR Bgee; ENSG00000166396; Expressed in upper arm skin and 97 other tissues.
DR ExpressionAtlas; O75635; baseline and differential.
DR Genevisible; O75635; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IBA:GO_Central.
DR GO; GO:0010951; P:negative regulation of endopeptidase activity; IBA:GO_Central.
DR GO; GO:0032967; P:positive regulation of collagen biosynthetic process; IEA:Ensembl.
DR GO; GO:0072126; P:positive regulation of glomerular mesangial cell proliferation; IEA:Ensembl.
DR GO; GO:0090362; P:positive regulation of platelet-derived growth factor production; IEA:Ensembl.
DR GO; GO:0032914; P:positive regulation of transforming growth factor beta1 production; IEA:Ensembl.
DR Gene3D; 2.30.39.10; -; 1.
DR Gene3D; 3.30.497.10; -; 1.
DR InterPro; IPR023795; Serpin_CS.
DR InterPro; IPR023796; Serpin_dom.
DR InterPro; IPR000215; Serpin_fam.
DR InterPro; IPR036186; Serpin_sf.
DR InterPro; IPR042178; Serpin_sf_1.
DR InterPro; IPR042185; Serpin_sf_2.
DR PANTHER; PTHR11461; PTHR11461; 1.
DR Pfam; PF00079; Serpin; 1.
DR SMART; SM00093; SERPIN; 1.
DR SUPFAM; SSF56574; SSF56574; 1.
DR PROSITE; PS00284; SERPIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Palmoplantar keratoderma; Phosphoprotein;
KW Protease inhibitor; Reference proteome; Serine protease inhibitor.
FT CHAIN 1..380
FT /note="Serpin B7"
FT /id="PRO_0000094108"
FT SITE 347..348
FT /note="Reactive bond"
FT /evidence="ECO:0000250"
FT MOD_RES 217
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 223
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT VAR_SEQ 57..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044711"
FT VARIANT 266
FT /note="R -> Q (in dbSNP:rs17782413)"
FT /id="VAR_034512"
FT CONFLICT 155
FT /note="K -> E (in Ref. 3; BAG62480)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 380 AA; 42905 MW; 9A2CDB6C63CFF605 CRC64;
MASLAAANAE FCFNLFREMD DNQGNGNVFF SSLSLFAALA LVRLGAQDDS LSQIDKLLHV
NTASGYGNSS NSQSGLQSQL KRVFSDINAS HKDYDLSIVN GLFAEKVYGF HKDYIECAEK
LYDAKVERVD FTNHLEDTRR NINKWVENET HGKIKNVIGE GGISSSAVMV LVNAVYFKGK
WQSAFTKSET INCHFKSPKC SGKAVAMMHQ ERKFNLSVIE DPSMKILELR YNGGINMYVL
LPENDLSEIE NKLTFQNLME WTNPRRMTSK YVEVFFPQFK IEKNYEMKQY LRALGLKDIF
DESKADLSGI ASGGRLYISR MMHKSYIEVT EEGTEATAAT GSNIVEKQLP QSTLFRADHP
FLFVIRKDDI ILFSGKVSCP
