LOCUS       NM_001374867            3482 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 32, mRNA.
ACCESSION   NM_001374867
VERSION     NM_001374867.1
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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 3482)
  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 :: SRR14038195.1475452.1,
                                           SRR11853559.5911.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AP001258.4         89561-89595
            36-192              AP001258.4         93496-93652
            193-3482            AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..3482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3482
                     /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..35
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            36..192
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1947
                     /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_001361796.1"
                     /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            193..3482
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3460..3465
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      3482
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="major polyA site"
ORIGIN      
        1 gctggattcc aggccgagtg ctggcgaggc gcgcactttg aagatactgc tataatttga
       61 aaatttgaaa ttagtgtttc agctgaacca tccgttcatc ttcaagccat catgagctgt
      121 aagaagcaga ggtcacggaa gcactcagtc aatgaaaaat gtaatatgaa aatcgagcac
      181 tatttttctc cggtctctaa agagcaacag aataattgca gtacttctct aatgaggatg
      241 gagtctagag gagacccaag agccacaact aatacccagg ctcaaagatt ccattcacct
      301 aagaaaaatc cagaagacca gaccatgccc caaaatagga caatatatgt taccttgaag
      361 gtaaaccaca ggagaaacca agatatgaaa cttaagctca cacatagtga gaatagtagc
      421 ttatatatgg ctctcaacac tctccaggct gtcagaaaag agatagaaac tcaccaaggc
      481 caagaaatgc ttgtgcgtgg cacagaagga atcaaagagt acataaacct tggaatgccc
      541 ctcagttgtt tccctgaagg tggccaggtg gtcattacat tttcccaaag taaaagtaag
      601 cagaaggaag ataaccacat atttggcagg caggacaaag catcgactga atgtgtcaaa
      661 ttttacattc atgcaattgg aattgggaag tgtaaaagaa ggattgttaa atgtgggaag
      721 cttcacaaaa aggggcgcaa actctgtgtt tatgctttca aaggagaaac catcaaggat
      781 gcactgtgca aggatggcag atttctttcc tttctggaga atgatgattg gaaactcatt
      841 gaaaacaatg acaccatttt agaaagcacc cagccagttg atgaattaga aggcagatac
      901 tttcaggttg aggttgagaa aagaatggtc cccagtgcag cagcttctca gaatcctgag
      961 tcagagaaaa gaaacacctg tgtgttgaga gaacaaatcg tggctcagta ccccagtttg
     1021 aaaagagaaa gtgaaaaaat cattgaaaac ttcaagaaaa aaatgaaagt aaaaaatggg
     1081 gaaacattat ttgaattgca tagaacaacg tttgggaaag taacaaaaaa ttcttcttcg
     1141 attaaagtag tgaaacttct tgtacgtctc agtgactcag ttgggtactt attctgggac
     1201 agtgcaacta cgggttacgc cacctgcttt gtttttaaag gattgttcat tttaacttgt
     1261 cggcatgtaa tagatagcat tgtgggagac ggaatagagc caagtaagtg ggcaaccata
     1321 attggtcaat gtgtaagggt gacatttggt tatgaagagc taaaagacaa ggaaacaaac
     1381 tacttttttg ttgaaccttg gtttgagata cataatgaag agcttgacta tgctgtcctg
     1441 aaactgaagg aaaatggaca acaagtacct atggaactat ataatggaat tactcctgtg
     1501 ccacttagtg ggttgataca tattattggc catccatatg gagaaaaaaa gcagattgat
     1561 gcttgtgctg tgatccctca gggtcagcga gcaaagaaat gtcaggaacg tgttcagtct
     1621 aaaaaagcag aaagtccaga gtatgtccat atgtatactc aaagaagttt ccagaaaata
     1681 gttcacaacc ctgatgtgat tacctatgac actgaatttt tctttggggc ttccggctcc
     1741 cctgtgtttg attcaaaagg ttcattggtg gccatgcatg ctgctggctt tgcttatact
     1801 taccaaaatg agactcgtag tatcattgag tttggctcta ccatggaatc catcctcctt
     1861 gatattaagc aaagacataa accatggtat gaagaagtat ttgtaaatca gcaggatgta
     1921 gaaatgatga gtgatgagga cttgtgagaa ttcagtctac tggatttaag ggaatggctt
     1981 atggagttgt tatttcatag gcattgaaaa tggttttcta aactccaaaa tggtcatctt
     2041 atcaataata ataatattga ccatttccta tctgccaggc atttttctaa gcacatgaag
     2101 aaattagtcc taacaacact atgagatgga ctataacttg cccaaatttt tttttttttt
     2161 ttgagactga gtctcactct gtcgcctggg ctggagtaca gtggtgcgat ctcagctcac
     2221 tgcaacttcc acctcccagg ttcaagcgat tcttatgcct cagtctcctg agcagctggg
     2281 attacaggca aacgccacca cacccagcta aatttttttt tttttttttg tatttttagt
     2341 agagacaggg tttcaccatg ttggtcaggc gggtctcgaa ctcctgacct cgtgatccac
     2401 ctgcctcggc cttccaaagt gctgggatta caagtttgag ccactgcacc tggctaactt
     2461 gccctatttt aaagtcaagc aatgggaaga ataacaagat tatatagtaa tcagtttcat
     2521 gacactaaaa gtcatatagt catagggttt tttcatcttt catatctttg cctaaattca
     2581 tttgctacag tgcaggaacc aaaacttgtt catctcatga ttccctacat ctgacataag
     2641 gaaagtaagt gctcagaaaa atgtgcaggt caataagttg caaaagttgg ggctgcaatt
     2701 aatgctaaca taagagctaa atgcttgatt agaaatgatc tcaaaacctt ttagaatttc
     2761 caaaatcttc atattactga aactgtcgga atatatgggt cttgaaattc agaagatgat
     2821 agtcactctt cccatattta taggctatta aggcaaggga tatcttaaac atcatattac
     2881 tttatttaga tttctactac tccaattatt aatgttatgt atttctcatt gttttacttc
     2941 ttcatggtat tatgaagact atatagatga ttcaaccaag cctgcaaatc tccctcttgt
     3001 ggaattccac tggacccaat ctgttttcca tttccattgc aatactacta aagccataca
     3061 atatcaagca ccctccctct aggtccaggg actatcacag aagaagcagg catgtaagat
     3121 tttaaggact ggtttcgagg ggtcgagtgt aggaaaacag cctgttgcat tgtaagagtg
     3181 atgtcatctt gaagagcagc tggcatgatg actgctgttt gactcctgca taccaagata
     3241 ttctgcagca atgtctttaa acagtgccgg tagtacagat aacccctcat aaagatgctt
     3301 atctaacctc cccagtgttc aggtgtttca caagaaagtc tgagatatga ctagctacac
     3361 gttttgccaa aaatgcttgt tatataaagg gtacttttgg gagggtgagt gccgccattt
     3421 agtggctgct agaaacattg cttctgtttg taagttccta ttaaatgttt ctttctgaga
     3481 aa
//
