LOCUS       NM_198947               3506 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens FAM111 trypsin like peptidase B (FAM111B), transcript
            variant 1, mRNA.
ACCESSION   NM_198947 XM_350831
VERSION     NM_198947.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3506)
  AUTHORS   Naicker,D., Rhoda,C., Sunda,F. and Arowolo,A.
  TITLE     Unravelling the Intricate Roles of FAM111A and FAM111B: From
            Protease-Mediated Cellular Processes to Disease Implications
  JOURNAL   Int J Mol Sci 25 (5), 2845 (2024)
   PUBMED   38474092
  REMARK    GeneRIF: Unravelling the Intricate Roles of FAM111A and FAM111B:
            From Protease-Mediated Cellular Processes to Disease Implications.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3506)
  AUTHORS   Wang,H., Wang,H., Chen,J., Liu,P. and Xiao,X.
  TITLE     Overexpressed FAM111B degrades GSDMA to promote esophageal cancer
            tumorigenesis and cisplatin resistance
  JOURNAL   Cell Oncol (Dordr) 47 (1), 343-359 (2024)
   PUBMED   37672204
  REMARK    GeneRIF: Overexpressed FAM111B degrades GSDMA to promote esophageal
            cancer tumorigenesis and cisplatin resistance.
REFERENCE   3  (bases 1 to 3506)
  AUTHORS   Yang,Y., Yan,Z., Jiao,Y., Yang,W., Cui,Q. and Chen,S.
  TITLE     Family with sequence similarity 111 member B contributes to tumor
            growth and metastasis by mediating cell proliferation, invasion,
            and EMT via transforming acidic coiled-coil protein 3/PI3K/AKT
            signaling pathway in hepatocellular carcinoma
  JOURNAL   Environ Toxicol 39 (1), 409-420 (2024)
   PUBMED   37782700
  REMARK    GeneRIF: Family with sequence similarity 111 member B contributes
            to tumor growth and metastasis by mediating cell proliferation,
            invasion, and EMT via transforming acidic coiled-coil protein
            3/PI3K/AKT signaling pathway in hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 3506)
  AUTHORS   Li,F., He,H.Y., Fan,Z.H., Li,C.M., Gong,Y., Wang,X.J., Xiong,H.J.,
            Xie,C.M. and Bie,P.
  TITLE     Silencing of FAM111B inhibited proliferation, migration and
            invasion of hepatoma cells through activating p53 pathway
  JOURNAL   Dig Liver Dis 55 (12), 1679-1689 (2023)
   PUBMED   37270349
  REMARK    GeneRIF: Silencing of FAM111B inhibited proliferation, migration
            and invasion of hepatoma cells through activating p53 pathway.
REFERENCE   5  (bases 1 to 3506)
  AUTHORS   Wang,W., Gu,Y., Ni,H., Quan,Q. and Guo,L.
  TITLE     Silencing of FAM111B inhibits tumor growth and promotes apoptosis
            by decreasing AKT activity in ovarian cancer
  JOURNAL   Exp Biol Med (Maywood) 248 (12), 1043-1055 (2023)
   PUBMED   37095701
  REMARK    GeneRIF: Silencing of FAM111B inhibits tumor growth and promotes
            apoptosis by decreasing AKT activity in ovarian cancer.
REFERENCE   6  (bases 1 to 3506)
  AUTHORS   Gcelu,A., Deshpande,G., Shaboodien,G., Spracklen,T.F., Kalla,A.,
            Tikly,M., Mayosi,B.M. and Hodkinson,B.
  TITLE     Mutations of FAM111B gene are not associated with Systemic
            Sclerosis
  JOURNAL   Sci Rep 8 (1), 15988 (2018)
   PUBMED   30375432
  REMARK    GeneRIF: One rare variant was found in a patient with SSc but has
            no functional or structural impact on the FAM111B gene. In this
            cohort, FAM111B gene mutations are not associated with SSc.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3506)
  AUTHORS   Seo,A., Walsh,T., Lee,M.K., Ho,P.A., Hsu,E.K., Sidbury,R.,
            King,M.C. and Shimamura,A.
  TITLE     FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic
            Dysfunction
  JOURNAL   Pancreas 45 (6), 858-862 (2016)
   PUBMED   26495788
  REMARK    GeneRIF: Data indicate a heterozygous germline in-frame deletion in
            the gene FAM111B protein (c.1261_1263delAAG, p.Lys421del)
            cosegregated with the phenotype.
REFERENCE   8  (bases 1 to 3506)
  AUTHORS   Mercier,S., Kury,S., Shaboodien,G., Houniet,D.T., Khumalo,N.P.,
            Bou-Hanna,C., Bodak,N., Cormier-Daire,V., David,A., Faivre,L.,
            Figarella-Branger,D., Gherardi,R.K., Glen,E., Hamel,A.,
            Laboisse,C., Le Caignec,C., Lindenbaum,P., Magot,A., Munnich,A.,
            Mussini,J.M., Pillay,K., Rahman,T., Redon,R., Salort-Campana,E.,
            Santibanez-Koref,M., Thauvin,C., Barbarot,S., Keavney,B.,
            Bezieau,S. and Mayosi,B.M.
  TITLE     Mutations in FAM111B cause hereditary fibrosing poikiloderma with
            tendon contracture, myopathy, and pulmonary fibrosis
  JOURNAL   Am J Hum Genet 93 (6), 1100-1107 (2013)
   PUBMED   24268661
  REMARK    GeneRIF: Mutations in FAM111B cause hereditary fibrosing
            poikiloderma with tendon contracture, myopathy, and pulmonary
            fibrosis.
REFERENCE   9  (bases 1 to 3506)
  AUTHORS   Van Damme,P., Lasa,M., Polevoda,B., Gazquez,C., Elosegui-Artola,A.,
            Kim,D.S., De Juan-Pardo,E., Demeyer,K., Hole,K., Larrea,E.,
            Timmerman,E., Prieto,J., Arnesen,T., Sherman,F., Gevaert,K. and
            Aldabe,R.
  TITLE     N-terminal acetylome analyses and functional insights of the
            N-terminal acetyltransferase NatB
  JOURNAL   Proc Natl Acad Sci U S A 109 (31), 12449-12454 (2012)
   PUBMED   22814378
REFERENCE   10 (bases 1 to 3506)
  AUTHORS   Mercier,S., Kury,S. and Barbarot,S.
  TITLE     Hereditary Fibrosing Poikiloderma with Tendon Contractures,
            Myopathy, and Pulmonary Fibrosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27748098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY457926.1 and BM674379.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_198947.3.
            
            Summary: This gene encodes a protein with a trypsin-like
            cysteine/serine peptidase domain in the C-terminus. Mutations in
            this gene are associated with an autosomal dominant form of
            hereditary fibrosing poikiloderma (HFP). Affected individuals
            display mottled pigmentation, telangiectasia, epidermal atrophy,
            tendon contractures, and progressive pulmonary fibrosis.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. A paralog of this gene which also has a
            trypsin&#8208;like peptidase domain, FAM111A, is located only 16 kb
            from this gene on human chromosome 11q12.1. [provided by RefSeq,
            Apr 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304258.1, AY457926.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343597.4/ ENSP00000341565.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2655              AY457926.1         2-2656
            2656-3488           AY457926.1         2658-3490
            3489-3506           BM674379.1         17-34               c
FEATURES             Location/Qualifiers
     source          1..3506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3506
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /note="FAM111 trypsin like peptidase B"
                     /db_xref="GeneID:374393"
                     /db_xref="HGNC:HGNC:24200"
                     /db_xref="MIM:615584"
     exon            1..60
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            61..105
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            106..272
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..2396
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /note="isoform a is encoded by transcript variant 1;
                     cancer-associated nucleoprotein; family with sequence
                     similarity 111 member B; serine protease FAM111B"
                     /codon_start=1
                     /product="serine protease FAM111B isoform a"
                     /protein_id="NP_945185.1"
                     /db_xref="CCDS:CCDS7972.1"
                     /db_xref="GeneID:374393"
                     /db_xref="HGNC:HGNC:24200"
                     /db_xref="MIM:615584"
                     /translation="MNSMKTEENKSFSAMEDDQRTRPEVSKDTVMKQTHADTPVDHCL
                     SGIRKCSSTFKLKSEVNKHETALEMQNPNLNNKECCFTFTLNGNSRKLDRSVFTAYGK
                     PSESIYSALSANDYFSERIKNQFNKNIIVYEEKTIDGHINLGMPLKCLPSDSHFKITF
                     GQRKSSKEDGHILRQCENPNMECILFHVVAIGRTRKKIVKINELHEKGSKLCIYALKG
                     ETIEGALCKDGRFRSDIGEFEWKLKEGHKKIYGKQSMVDEVSGKVLEMDISKKKALQQ
                     KDIHKKIKQNESATDEINHQSLIQSKKKVHKPKKDGETKDVEHSREQILPPQDLSHYI
                     KDKTRQTIPRIRNYYFCSLPRKYRQINSQVRRRPHLGRRYAINLDVQKEAINLLKNYQ
                     TLNEAIMHQYPNFKEEAQWVRKYFREEQKRMNLSPAKQFNIYKKDFGKMTANSVSVAT
                     CEQLTYYSKSVGFMQWDNNGNTGNATCFVFNGGYIFTCRHVVHLMVGKNTHPSLWPDI
                     ISKCAKVTFTYTEFCPTPDNWFSIEPWLKVSNENLDYAILKLKENGNAFPPGLWRQIS
                     PQPSTGLIYLIGHPEGQIKKIDGCTVIPLNERLKKYPNDCQDGLVDLYDTTSNVYCMF
                     TQRSFLSEVWNTHTLSYDTCFSDGSSGSPVFNASGKLVALHTFGLFYQRGFNVHALIE
                     FGYSMDSILCDIKKTNESLYKSLNDEKLETYDEEKGKQESSLQDHQIEPMEC"
     exon            273..3506
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3490..3495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /note="hexamer: AATATA"
     polyA_site      3506
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /note="major polyA site"
ORIGIN      
        1 aaatccagag cggcgggcac tgacgggcac ttgcaccgtg tggacagact ctccggttct
       61 ggggaaatcc agtccctgtt actccatttt ggccagaaat tcaagacatt tcaggtggca
      121 gaataaattc aatccttgtt tctccatctt atcgagtagt agaagttagt tacattctct
      181 ttgaactcat catgaattcc atgaagactg aagaaaacaa gtcatttagc gctatggaag
      241 atgaccagag gactagacct gaagtttcaa aggatactgt catgaagcag acacatgctg
      301 acacacctgt tgatcattgt ctatctggca taagaaagtg tagcagcacc tttaagctta
      361 aaagtgaagt caacaagcat gaaacagccc ttgaaatgca gaatccaaat ttgaacaata
      421 aagaatgttg tttcaccttt acgttgaatg gaaactccag aaaattagac cgtagtgtgt
      481 ttacagcata tggtaaaccc agcgagagta tctactcagc cctgagtgct aatgactatt
      541 tcagtgaaag gataaagaat cagtttaata agaacattat tgtttatgaa gaaaagacaa
      601 tagatggaca tataaattta ggaatgcctc tcaagtgcct gcctagtgat tctcatttta
      661 aaattacatt tggtcaaaga aagagtagca aagaagatgg acacatatta cgccaatgtg
      721 aaaatccaaa catggaatgc attctttttc atgttgttgc tataggaagg acaagaaaga
      781 agattgttaa gatcaacgaa cttcatgaaa aaggaagtaa actttgtatt tatgccttga
      841 agggtgagac tattgaagga gccttatgca aggatggccg ttttcggtct gacataggtg
      901 aatttgaatg gaaactaaag gaaggtcata agaaaattta tggaaaacag tccatggtgg
      961 atgaagtatc tggaaaagtc ttagaaatgg acatttcaaa aaaaaaagca ttacaacaga
     1021 aagatatcca taaaaaaatt aaacagaatg aaagtgccac tgatgaaatt aatcaccaga
     1081 gtctgataca gtctaagaaa aaagtccaca aaccaaagaa agatggagag accaaagatg
     1141 tagaacacag cagagagcaa attctcccac ctcaggatct aagccattat attaaagata
     1201 aaactcgcca gacaattccc aggattagaa attattactt ttgtagtttg ccccgaaaat
     1261 ataggcaaat aaactcacaa gttagacgga ggccgcatct gggtaggcgg tatgctatta
     1321 atctggatgt ccaaaaggag gcaattaatc tcttaaagaa ttatcaaacg ttgaatgaag
     1381 ccataatgca tcagtatccg aattttaaag aggaggcaca gtgggtaaga aaatattttc
     1441 gggaagaaca aaagagaatg aatctttcac cagctaagca attcaacata tataaaaagg
     1501 acttcggaaa aatgactgca aattctgttt cagttgcaac ctgcgaacag cttacatatt
     1561 atagcaagtc agttgggttc atgcaatggg acaataatgg aaacacaggt aatgctactt
     1621 gctttgtctt caatggtggt tatattttca cctgtcgaca tgttgtacat cttatggtgg
     1681 gtaaaaacac acatccaagt ttgtggccag atataattag caaatgtgcg aaggtaacct
     1741 tcacttatac agagttctgc cctactcctg acaattggtt ttccattgag ccatggctta
     1801 aagtgtccaa tgaaaatcta gattatgcca ttttaaaact aaaagaaaat ggaaatgcgt
     1861 ttcctccagg actatggcga cagatttctc ctcaaccatc tactggtttg atttatttaa
     1921 ttggtcatcc tgaaggccag atcaagaaaa tagatggttg tactgtgatt cctctaaacg
     1981 aacgattgaa aaaatatcca aacgattgtc aagatgggtt ggtagatctc tatgatacca
     2041 ccagtaatgt atactgtatg tttacccaaa gaagtttcct atcagaggtt tggaacacac
     2101 acacgcttag ttatgatact tgtttctctg atgggtcctc aggctcccca gtgtttaatg
     2161 catctggcaa attggttgct ttgcatacct ttgggctttt ttatcaacga ggatttaatg
     2221 tgcatgccct tattgaattt ggttattcta tggattctat tctttgtgat attaaaaaga
     2281 caaatgagag cttgtataaa tcattaaatg atgagaaact tgagacctac gatgaagaga
     2341 aaggtaaaca agagtcatca cttcaagatc atcagattga acccatggaa tgttagaaaa
     2401 gagatgctgt cttcaagaaa atatgccaat aattcctggc aaagatttca tgacaaagac
     2461 acttaaagca attgcaacaa aagtgaaaat tggcaaatga gacctaatta aatcttctgc
     2521 acagcaaaag aaactatcaa cagggtaaac acacaaccta cggaatggga gaaaatattt
     2581 gcaaactatg catacagcaa agatctaata ttcagaatcc attaggaact taaacagatt
     2641 aacaagcaaa aaaaacaagc aaccccatta aaaagtgggc aaaggacatg aacaaacact
     2701 tttcaaaaga agatatacac atggccaaca aggatatgaa aaaatacctg atatcactaa
     2761 tcattagaga aatgcaaatc aaaaaaatgc catcacacta atcagaatgg ctgttattaa
     2821 aatgccaaaa aattacagat gctggcgagg ttgcagagaa aggggaatgc ttatacactg
     2881 ctagtgggaa aataaattag ttcagccatt gtggaaagca gttgggtgat ttctaaaaga
     2941 acttaaaaca gctaccattc aagccagcaa tctcatgact gggtatatgt ccaaaggaat
     3001 ataaattgtt ctaccataaa gacatgcaca tatatgttca ctgcagcact attcacaata
     3061 gcaaaacatg aaatcaacct aaatgcccat caatggtaga ctggataaag aaaatgtgac
     3121 acatatacac catagcatac tacacagcca taaaaaagta caagatcatg tgctttgcag
     3181 caacatggat ggaactgaag gtcattatcc taagcgaact aatgcaggaa cagaaagcca
     3241 agtaccacat gttctctcat aagtggaagc taaatattga gtacacatgg acacaaagaa
     3301 gaaaacaaca gatatggggc ctacttgagg gtggagggtg ggaggagggt gaagactgaa
     3361 aaactgccta tggggtacta tgcttattac ctgggtgatg aaataatctg aacacaaaac
     3421 cctggtgaca tgcagtttac ctatataaca aaactgcaca tggactctta aacctaaata
     3481 aaagtttaaa atatatataa tgccaa
//
