F111B_HUMAN
ID F111B_HUMAN Reviewed; 734 AA.
AC Q6SJ93; B4E2G2; Q6P661;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Serine protease FAM111B {ECO:0000305};
DE EC=3.4.21.- {ECO:0000250|UniProtKB:Q96PZ2};
DE AltName: Full=Cancer-associated nucleoprotein {ECO:0000303|Ref.1};
GN Name=FAM111B {ECO:0000312|HGNC:HGNC:24200};
GN Synonyms=CANP {ECO:0000303|Ref.1};
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).
RA Liu S.-H., Pan H.-W., Hsu H.-C.;
RT "Molecular characterization and cloning of a cancer associated
RT nucleoprotein in hepatocellular carcinoma.";
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Trachea;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-270 (ISOFORM 2).
RC TISSUE=Testis;
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 [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [5]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-284, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [6]
RP VARIANTS POIKTMP ASP-621; GLY-627 AND ASN-628, AND TISSUE SPECIFICITY.
RX PubMed=24268661; DOI=10.1016/j.ajhg.2013.10.013;
RA Mercier S., Kury S., Shaboodien G., Houniet D.T., Khumalo N.P.,
RA Bou-Hanna C., Bodak N., Cormier-Daire V., David A., Faivre L.,
RA Figarella-Branger D., Gherardi R.K., Glen E., Hamel A., Laboisse C.,
RA Le Caignec C., Lindenbaum P., Magot A., Munnich A., Mussini J.M.,
RA Pillay K., Rahman T., Redon R., Salort-Campana E., Santibanez-Koref M.,
RA Thauvin C., Barbarot S., Keavney B., Bezieau S., Mayosi B.M.;
RT "Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon
RT contracture, myopathy, and pulmonary fibrosis.";
RL Am. J. Hum. Genet. 93:1100-1107(2013).
CC -!- FUNCTION: Serine protease. {ECO:0000250|UniProtKB:Q96PZ2}.
CC -!- INTERACTION:
CC Q6SJ93; P50570-2: DNM2; NbExp=3; IntAct=EBI-6309082, EBI-10968534;
CC Q6SJ93; P28799: GRN; NbExp=3; IntAct=EBI-6309082, EBI-747754;
CC Q6SJ93; P42858: HTT; NbExp=12; IntAct=EBI-6309082, EBI-466029;
CC Q6SJ93; Q01105: SET; NbExp=3; IntAct=EBI-6309082, EBI-1053182;
CC Q6SJ93; Q01105-2: SET; NbExp=3; IntAct=EBI-6309082, EBI-7481343;
CC Q6SJ93; O76024: WFS1; NbExp=3; IntAct=EBI-6309082, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6SJ93-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6SJ93-2; Sequence=VSP_022739;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:24268661}.
CC -!- DISEASE: Poikiloderma, hereditary fibrosing, with tendon contractures,
CC myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]: An autosomal
CC dominant form of hereditary poikiloderma, a genodermatosis
CC characterized by mottled pigmentation, telangiectasia, and epidermal
CC atrophy. POIKTMP features include tendon contracture, myopathy, and
CC progressive pulmonary fibrosis. It manifests from early childhood with
CC telangiectasia and pigmentary anomalies especially on the face and sun-
CC exposed areas, tendon contractures that particularly involve the ankles
CC and feet causing gait disturbance, and development of pulmonary
CC fibrosis during the second decade of life resulting in progressive
CC dyspnea and restrictive impairment of lung function.
CC {ECO:0000269|PubMed:24268661}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the FAM111 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH62456.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AY457926; AAR20839.1; -; mRNA.
DR EMBL; AK304258; BAG65124.1; -; mRNA.
DR EMBL; BC062456; AAH62456.1; ALT_SEQ; mRNA.
DR EMBL; BC130513; AAI30514.1; -; mRNA.
DR EMBL; BC130539; AAI30540.1; -; mRNA.
DR CCDS; CCDS44611.1; -. [Q6SJ93-2]
DR CCDS; CCDS7972.1; -. [Q6SJ93-1]
DR RefSeq; NP_001136175.1; NM_001142703.1. [Q6SJ93-2]
DR RefSeq; NP_001136176.1; NM_001142704.1. [Q6SJ93-2]
DR RefSeq; NP_945185.1; NM_198947.3. [Q6SJ93-1]
DR AlphaFoldDB; Q6SJ93; -.
DR BioGRID; 131897; 26.
DR IntAct; Q6SJ93; 17.
DR MINT; Q6SJ93; -.
DR STRING; 9606.ENSP00000341565; -.
DR MEROPS; S01.531; -.
DR iPTMnet; Q6SJ93; -.
DR PhosphoSitePlus; Q6SJ93; -.
DR BioMuta; FAM111B; -.
DR DMDM; 74758524; -.
DR EPD; Q6SJ93; -.
DR jPOST; Q6SJ93; -.
DR MassIVE; Q6SJ93; -.
DR MaxQB; Q6SJ93; -.
DR PaxDb; Q6SJ93; -.
DR PeptideAtlas; Q6SJ93; -.
DR PRIDE; Q6SJ93; -.
DR ProteomicsDB; 67356; -. [Q6SJ93-1]
DR ProteomicsDB; 67357; -. [Q6SJ93-2]
DR Antibodypedia; 27706; 115 antibodies from 24 providers.
DR DNASU; 374393; -.
DR Ensembl; ENST00000343597.4; ENSP00000341565.3; ENSG00000189057.11. [Q6SJ93-1]
DR Ensembl; ENST00000411426.1; ENSP00000393855.1; ENSG00000189057.11. [Q6SJ93-2]
DR Ensembl; ENST00000529618.5; ENSP00000432875.1; ENSG00000189057.11. [Q6SJ93-2]
DR Ensembl; ENST00000620384.1; ENSP00000483456.1; ENSG00000189057.11. [Q6SJ93-1]
DR GeneID; 374393; -.
DR KEGG; hsa:374393; -.
DR MANE-Select; ENST00000343597.4; ENSP00000341565.3; NM_198947.4; NP_945185.1.
DR UCSC; uc001nnl.5; human. [Q6SJ93-1]
DR CTD; 374393; -.
DR DisGeNET; 374393; -.
DR GeneCards; FAM111B; -.
DR GeneReviews; FAM111B; -.
DR HGNC; HGNC:24200; FAM111B.
DR HPA; ENSG00000189057; Tissue enhanced (lymphoid).
DR MalaCards; FAM111B; -.
DR MIM; 615584; gene.
DR MIM; 615704; phenotype.
DR neXtProt; NX_Q6SJ93; -.
DR OpenTargets; ENSG00000189057; -.
DR Orphanet; 221043; Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome.
DR PharmGKB; PA143485469; -.
DR VEuPathDB; HostDB:ENSG00000189057; -.
DR eggNOG; ENOG502QTFX; Eukaryota.
DR GeneTree; ENSGT00390000005182; -.
DR HOGENOM; CLU_022719_0_0_1; -.
DR InParanoid; Q6SJ93; -.
DR OMA; HEPEKDG; -.
DR OrthoDB; 470902at2759; -.
DR PhylomeDB; Q6SJ93; -.
DR TreeFam; TF332538; -.
DR PathwayCommons; Q6SJ93; -.
DR SignaLink; Q6SJ93; -.
DR BioGRID-ORCS; 374393; 7 hits in 1068 CRISPR screens.
DR GenomeRNAi; 374393; -.
DR Pharos; Q6SJ93; Tbio.
DR PRO; PR:Q6SJ93; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6SJ93; protein.
DR Bgee; ENSG00000189057; Expressed in secondary oocyte and 90 other tissues.
DR ExpressionAtlas; Q6SJ93; baseline and differential.
DR Genevisible; Q6SJ93; HS.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0008233; F:peptidase activity; IEA:UniProtKB-KW.
DR GO; GO:0006260; P:DNA replication; IBA:GO_Central.
DR GO; GO:0006508; P:proteolysis; IEA:UniProtKB-KW.
DR Gene3D; 2.40.10.10; -; 2.
DR InterPro; IPR009003; Peptidase_S1_PA.
DR InterPro; IPR043504; Peptidase_S1_PA_chymotrypsin.
DR SUPFAM; SSF50494; SSF50494; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Disease variant; Hydrolase;
KW Isopeptide bond; Protease; Reference proteome; Ubl conjugation.
FT CHAIN 1..734
FT /note="Serine protease FAM111B"
FT /id="PRO_0000274409"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 285..321
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 712..734
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..32
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 306..321
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 490
FT /note="Charge relay system"
FT /evidence="ECO:0000250|UniProtKB:P06681"
FT ACT_SITE 544
FT /note="Charge relay system"
FT /evidence="ECO:0000250|UniProtKB:P06681"
FT ACT_SITE 650
FT /note="Charge relay system"
FT /evidence="ECO:0000250|UniProtKB:Q96PZ2"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CROSSLNK 284
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 1..30
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022739"
FT VARIANT 218
FT /note="G -> D (in dbSNP:rs1060428)"
FT /id="VAR_053821"
FT VARIANT 621
FT /note="Y -> D (in POIKTMP; dbSNP:rs587777236)"
FT /evidence="ECO:0000269|PubMed:24268661"
FT /id="VAR_070953"
FT VARIANT 627
FT /note="R -> G (in POIKTMP; dbSNP:rs587777237)"
FT /evidence="ECO:0000269|PubMed:24268661"
FT /id="VAR_070954"
FT VARIANT 628
FT /note="S -> N (in POIKTMP; dbSNP:rs587777238)"
FT /evidence="ECO:0000269|PubMed:24268661"
FT /id="VAR_070955"
FT VARIANT 731
FT /note="P -> A (in dbSNP:rs17153376)"
FT /id="VAR_030282"
FT CONFLICT 104
FT /note="S -> G (in Ref. 3; AAH62456)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 734 AA; 84674 MW; 5CDDF963849CE433 CRC64;
MNSMKTEENK SFSAMEDDQR TRPEVSKDTV MKQTHADTPV DHCLSGIRKC SSTFKLKSEV
NKHETALEMQ NPNLNNKECC FTFTLNGNSR KLDRSVFTAY GKPSESIYSA LSANDYFSER
IKNQFNKNII VYEEKTIDGH INLGMPLKCL PSDSHFKITF GQRKSSKEDG HILRQCENPN
MECILFHVVA IGRTRKKIVK INELHEKGSK LCIYALKGET IEGALCKDGR FRSDIGEFEW
KLKEGHKKIY GKQSMVDEVS GKVLEMDISK KKALQQKDIH KKIKQNESAT DEINHQSLIQ
SKKKVHKPKK DGETKDVEHS REQILPPQDL SHYIKDKTRQ TIPRIRNYYF CSLPRKYRQI
NSQVRRRPHL GRRYAINLDV QKEAINLLKN YQTLNEAIMH QYPNFKEEAQ WVRKYFREEQ
KRMNLSPAKQ FNIYKKDFGK MTANSVSVAT CEQLTYYSKS VGFMQWDNNG NTGNATCFVF
NGGYIFTCRH VVHLMVGKNT HPSLWPDIIS KCAKVTFTYT EFCPTPDNWF SIEPWLKVSN
ENLDYAILKL KENGNAFPPG LWRQISPQPS TGLIYLIGHP EGQIKKIDGC TVIPLNERLK
KYPNDCQDGL VDLYDTTSNV YCMFTQRSFL SEVWNTHTLS YDTCFSDGSS GSPVFNASGK
LVALHTFGLF YQRGFNVHAL IEFGYSMDSI LCDIKKTNES LYKSLNDEKL ETYDEEKGKQ
ESSLQDHQIE PMEC
