LOCUS       NM_001374850            3783 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 15, mRNA.
ACCESSION   NM_001374850
VERSION     NM_001374850.1
KEYWORDS    RefSeq.
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 3783)
  AUTHORS   Palani,S., Machida,Y., Alvey,J.R., Mishra,V., Welter,A.L., Cui,G.,
            Bragantini,B., Botuyan,M.V., Cong,A.T.Q., Mer,G., Schellenberg,M.J.
            and Machida,Y.J.
  TITLE     Dimerization-dependent serine protease activity of FAM111A prevents
            replication fork stalling at topoisomerase 1 cleavage complexes
  JOURNAL   Nat Commun 15 (1), 2064 (2024)
   PUBMED   38453899
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3783)
  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   3  (bases 1 to 3783)
  AUTHORS   Rios-Szwed,D.O., Alvarez,V., Sanchez-Pulido,L., Garcia-Wilson,E.,
            Jiang,H., Bandau,S., Lamond,A. and Alabert,C.
  TITLE     FAM111A regulates replication origin activation and cell fitness
  JOURNAL   Life Sci Alliance 6 (12), e202302111 (2023)
   PUBMED   37793778
  REMARK    GeneRIF: FAM111A regulates replication origin activation and cell
            fitness.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3783)
  AUTHORS   Nikkel,S.M., Ahmed,A., Smith,A., Marcadier,J., Bulman,D.E. and
            Boycott,K.M.
  TITLE     Mother-to-daughter transmission of Kenny-Caffey syndrome associated
            with the recurrent, dominant FAM111A mutation p.Arg569His
  JOURNAL   Clin Genet 86 (4), 394-395 (2014)
   PUBMED   24635597
  REMARK    GeneRIF: Together, these data suggest that FAM111A may also be
            important in the development and function of male genitalia. 394
REFERENCE   5  (bases 1 to 3783)
  AUTHORS   Isojima,T., Doi,K., Mitsui,J., Oda,Y., Tokuhiro,E., Yasoda,A.,
            Yorifuji,T., Horikawa,R., Yoshimura,J., Ishiura,H., Morishita,S.,
            Tsuji,S. and Kitanaka,S.
  TITLE     A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome
            type 2
  JOURNAL   J Bone Miner Res 29 (4), 992-998 (2014)
   PUBMED   23996431
  REMARK    GeneRIF: study would provide evidence that FAM111A is a key
            molecule for normal bone development, height gain, and parathyroid
            hormone development and/or regulation
REFERENCE   6  (bases 1 to 3783)
  AUTHORS   Alabert,C., Bukowski-Wills,J.C., Lee,S.B., Kustatscher,G.,
            Nakamura,K., de Lima Alves,F., Menard,P., Mejlvang,J.,
            Rappsilber,J. and Groth,A.
  TITLE     Nascent chromatin capture proteomics determines chromatin dynamics
            during DNA replication and identifies unknown fork components
  JOURNAL   Nat Cell Biol 16 (3), 281-293 (2014)
   PUBMED   24561620
  REMARK    GeneRIF: FAM111A is a replication factor required for PCNA loading.
REFERENCE   7  (bases 1 to 3783)
  AUTHORS   Unger,S., Gorna,M.W., Le Bechec,A., Do Vale-Pereira,S.,
            Bedeschi,M.F., Geiberger,S., Grigelioniene,G., Horemuzova,E.,
            Lalatta,F., Lausch,E., Magnani,C., Nampoothiri,S., Nishimura,G.,
            Petrella,D., Rojas-Ringeling,F., Utsunomiya,A., Zabel,B.,
            Pradervand,S., Harshman,K., Campos-Xavier,B., Bonafe,L.,
            Superti-Furga,G., Stevenson,B. and Superti-Furga,A.
  TITLE     FAM111A mutations result in hypoparathyroidism and impaired
            skeletal development
  JOURNAL   Am J Hum Genet 92 (6), 990-995 (2013)
   PUBMED   23684011
  REMARK    GeneRIF: FAM111A appears to be crucial to a pathway that governs
            parathyroid hormone production, calcium homeostasis, and skeletal
            development and growth.
REFERENCE   8  (bases 1 to 3783)
  AUTHORS   Fine,D.A., Rozenblatt-Rosen,O., Padi,M., Korkhin,A., James,R.L.,
            Adelmant,G., Yoon,R., Guo,L., Berrios,C., Zhang,Y.,
            Calderwood,M.A., Velmurgan,S., Cheng,J., Marto,J.A., Hill,D.E.,
            Cusick,M.E., Vidal,M., Florens,L., Washburn,M.P., Litovchick,L. and
            DeCaprio,J.A.
  TITLE     Identification of FAM111A as an SV40 host range restriction and
            adenovirus helper factor
  JOURNAL   PLoS Pathog 8 (10), e1002949 (2012)
   PUBMED   23093934
  REMARK    GeneRIF: FAM111A functions as a host range restriction factor that
            is specifically targeted by SV40 large T antigen
REFERENCE   9  (bases 1 to 3783)
  AUTHORS   Cheng,S., Lo,I.F.M. and Luk,H.M.
  TITLE     FAM111A-Related Skeletal Dysplasias
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37023242
REFERENCE   10 (bases 1 to 3783)
  AUTHORS   Mazur-Stazka,E.
  TITLE     [Usefulness of the rheocardiogram for determination of left
            ventricular contraction periods in patients with chronic
            circulatory failure]
  JOURNAL   Wiad Lek 43 (5-6), 175-182 (1990)
   PUBMED   2368401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001258.4.
            
            Summary: The protein encoded by this gene is cell-cycle regulated,
            and has nuclear localization. The C-terminal half of the protein
            shares homology with trypsin-like peptidases and it contains a
            PCNA-interacting peptide (PIP) box, that is necessary for its
            co-localization with proliferating cell nuclear antigen (PCNA).
            Reduced expression of this gene resulted in DNA replication
            defects, consistent with the demonstrated role for this gene in
            Simian Virus 40 (SV40) viral replication. Mutations in this gene
            have been associated with Kenny-Caffey syndrome (KCS) type 2 and
            the more severe osteocraniostenosis (OCS, also known as Gracile
            Bone Dysplasia), both characterized by short stature,
            hypoparathyroidism, bone development abnormalities, and
            hypocalcemia. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2015].
            
            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 :: SRR18074967.2636944.1,
                                           SRR18074968.4032050.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               AP001258.4         87555-87668
            115-336             AP001258.4         87782-88003
            337-493             AP001258.4         93496-93652
            494-3783            AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..3783
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3783
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="FAM111 trypsin like peptidase A"
                     /db_xref="GeneID:63901"
                     /db_xref="HGNC:HGNC:24725"
                     /db_xref="MIM:615292"
     exon            1..114
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            115..336
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            337..493
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             413..2248
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="protein FAM111A; family with sequence similarity
                     111 member A"
                     /codon_start=1
                     /product="serine protease FAM111A"
                     /protein_id="NP_001361779.1"
                     /db_xref="CCDS:CCDS7973.1"
                     /db_xref="GeneID:63901"
                     /db_xref="HGNC:HGNC:24725"
                     /db_xref="MIM:615292"
                     /translation="MSCKKQRSRKHSVNEKCNMKIEHYFSPVSKEQQNNCSTSLMRME
                     SRGDPRATTNTQAQRFHSPKKNPEDQTMPQNRTIYVTLKVNHRRNQDMKLKLTHSENS
                     SLYMALNTLQAVRKEIETHQGQEMLVRGTEGIKEYINLGMPLSCFPEGGQVVITFSQS
                     KSKQKEDNHIFGRQDKASTECVKFYIHAIGIGKCKRRIVKCGKLHKKGRKLCVYAFKG
                     ETIKDALCKDGRFLSFLENDDWKLIENNDTILESTQPVDELEGRYFQVEVEKRMVPSA
                     AASQNPESEKRNTCVLREQIVAQYPSLKRESEKIIENFKKKMKVKNGETLFELHRTTF
                     GKVTKNSSSIKVVKLLVRLSDSVGYLFWDSATTGYATCFVFKGLFILTCRHVIDSIVG
                     DGIEPSKWATIIGQCVRVTFGYEELKDKETNYFFVEPWFEIHNEELDYAVLKLKENGQ
                     QVPMELYNGITPVPLSGLIHIIGHPYGEKKQIDACAVIPQGQRAKKCQERVQSKKAES
                     PEYVHMYTQRSFQKIVHNPDVITYDTEFFFGASGSPVFDSKGSLVAMHAAGFAYTYQN
                     ETRSIIEFGSTMESILLDIKQRHKPWYEEVFVNQQDVEMMSDEDL"
     exon            494..3783
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3761..3766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      3783
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="major polyA site"
ORIGIN      
        1 cccaggccag cctaccggcg actaggatgc tttcgctttc gctctcgctt tccaatactc
       61 gggactgggg aaaccgggag aatagaagca ggcaaggacc gccgtgggca cggggtgtcc
      121 ccagcgcagc caatcggctt ccgaagtagg tgagttgctg cctgaagaga aaagacaaac
      181 tccagtatct ttcattccat tggccagacg cgccattccc caagtgagtt ctgttctcca
      241 accaaagtgc tggattccaa gggactggaa gggaaagtcc ctaaaaatca cgagttcagg
      301 cgtctgagac ttggtgggaa cggaccttcc tcttagcttt gaagatactg ctataatttg
      361 aaaatttgaa attagtgttt cagctgaacc atccgttcat cttcaagcca tcatgagctg
      421 taagaagcag aggtcacgga agcactcagt caatgaaaaa tgtaatatga aaatcgagca
      481 ctatttttct ccggtctcta aagagcaaca gaataattgc agtacttctc taatgaggat
      541 ggagtctaga ggagacccaa gagccacaac taatacccag gctcaaagat tccattcacc
      601 taagaaaaat ccagaagacc agaccatgcc ccaaaatagg acaatatatg ttaccttgaa
      661 ggtaaaccac aggagaaacc aagatatgaa acttaagctc acacatagtg agaatagtag
      721 cttatatatg gctctcaaca ctctccaggc tgtcagaaaa gagatagaaa ctcaccaagg
      781 ccaagaaatg cttgtgcgtg gcacagaagg aatcaaagag tacataaacc ttggaatgcc
      841 cctcagttgt ttccctgaag gtggccaggt ggtcattaca ttttcccaaa gtaaaagtaa
      901 gcagaaggaa gataaccaca tatttggcag gcaggacaaa gcatcgactg aatgtgtcaa
      961 attttacatt catgcaattg gaattgggaa gtgtaaaaga aggattgtta aatgtgggaa
     1021 gcttcacaaa aaggggcgca aactctgtgt ttatgctttc aaaggagaaa ccatcaagga
     1081 tgcactgtgc aaggatggca gatttctttc ctttctggag aatgatgatt ggaaactcat
     1141 tgaaaacaat gacaccattt tagaaagcac ccagccagtt gatgaattag aaggcagata
     1201 ctttcaggtt gaggttgaga aaagaatggt ccccagtgca gcagcttctc agaatcctga
     1261 gtcagagaaa agaaacacct gtgtgttgag agaacaaatc gtggctcagt accccagttt
     1321 gaaaagagaa agtgaaaaaa tcattgaaaa cttcaagaaa aaaatgaaag taaaaaatgg
     1381 ggaaacatta tttgaattgc atagaacaac gtttgggaaa gtaacaaaaa attcttcttc
     1441 gattaaagta gtgaaacttc ttgtacgtct cagtgactca gttgggtact tattctggga
     1501 cagtgcaact acgggttacg ccacctgctt tgtttttaaa ggattgttca ttttaacttg
     1561 tcggcatgta atagatagca ttgtgggaga cggaatagag ccaagtaagt gggcaaccat
     1621 aattggtcaa tgtgtaaggg tgacatttgg ttatgaagag ctaaaagaca aggaaacaaa
     1681 ctactttttt gttgaacctt ggtttgagat acataatgaa gagcttgact atgctgtcct
     1741 gaaactgaag gaaaatggac aacaagtacc tatggaacta tataatggaa ttactcctgt
     1801 gccacttagt gggttgatac atattattgg ccatccatat ggagaaaaaa agcagattga
     1861 tgcttgtgct gtgatccctc agggtcagcg agcaaagaaa tgtcaggaac gtgttcagtc
     1921 taaaaaagca gaaagtccag agtatgtcca tatgtatact caaagaagtt tccagaaaat
     1981 agttcacaac cctgatgtga ttacctatga cactgaattt ttctttgggg cttccggctc
     2041 ccctgtgttt gattcaaaag gttcattggt ggccatgcat gctgctggct ttgcttatac
     2101 ttaccaaaat gagactcgta gtatcattga gtttggctct accatggaat ccatcctcct
     2161 tgatattaag caaagacata aaccatggta tgaagaagta tttgtaaatc agcaggatgt
     2221 agaaatgatg agtgatgagg acttgtgaga attcagtcta ctggatttaa gggaatggct
     2281 tatggagttg ttatttcata ggcattgaaa atggttttct aaactccaaa atggtcatct
     2341 tatcaataat aataatattg accatttcct atctgccagg catttttcta agcacatgaa
     2401 gaaattagtc ctaacaacac tatgagatgg actataactt gcccaaattt tttttttttt
     2461 tttgagactg agtctcactc tgtcgcctgg gctggagtac agtggtgcga tctcagctca
     2521 ctgcaacttc cacctcccag gttcaagcga ttcttatgcc tcagtctcct gagcagctgg
     2581 gattacaggc aaacgccacc acacccagct aaattttttt tttttttttt gtatttttag
     2641 tagagacagg gtttcaccat gttggtcagg cgggtctcga actcctgacc tcgtgatcca
     2701 cctgcctcgg ccttccaaag tgctgggatt acaagtttga gccactgcac ctggctaact
     2761 tgccctattt taaagtcaag caatgggaag aataacaaga ttatatagta atcagtttca
     2821 tgacactaaa agtcatatag tcatagggtt ttttcatctt tcatatcttt gcctaaattc
     2881 atttgctaca gtgcaggaac caaaacttgt tcatctcatg attccctaca tctgacataa
     2941 ggaaagtaag tgctcagaaa aatgtgcagg tcaataagtt gcaaaagttg gggctgcaat
     3001 taatgctaac ataagagcta aatgcttgat tagaaatgat ctcaaaacct tttagaattt
     3061 ccaaaatctt catattactg aaactgtcgg aatatatggg tcttgaaatt cagaagatga
     3121 tagtcactct tcccatattt ataggctatt aaggcaaggg atatcttaaa catcatatta
     3181 ctttatttag atttctacta ctccaattat taatgttatg tatttctcat tgttttactt
     3241 cttcatggta ttatgaagac tatatagatg attcaaccaa gcctgcaaat ctccctcttg
     3301 tggaattcca ctggacccaa tctgttttcc atttccattg caatactact aaagccatac
     3361 aatatcaagc accctccctc taggtccagg gactatcaca gaagaagcag gcatgtaaga
     3421 ttttaaggac tggtttcgag gggtcgagtg taggaaaaca gcctgttgca ttgtaagagt
     3481 gatgtcatct tgaagagcag ctggcatgat gactgctgtt tgactcctgc ataccaagat
     3541 attctgcagc aatgtcttta aacagtgccg gtagtacaga taacccctca taaagatgct
     3601 tatctaacct ccccagtgtt caggtgtttc acaagaaagt ctgagatatg actagctaca
     3661 cgttttgcca aaaatgcttg ttatataaag ggtacttttg ggagggtgag tgccgccatt
     3721 tagtggctgc tagaaacatt gcttctgttt gtaagttcct attaaatgtt tctttctgag
     3781 aaa
//
