LOCUS       NM_001374851            3831 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 16, mRNA.
ACCESSION   NM_001374851
VERSION     NM_001374851.1
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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 3831)
  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 :: SRR1163655.302369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-91                AP001258.4         87555-87645
            92-313              AP001258.4         87782-88003
            314-354             AP001258.4         88354-88394
            355-384             AP001258.4         90526-90555
            385-541             AP001258.4         93496-93652
            542-3831            AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..3831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3831
                     /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..91
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            92..313
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            314..354
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            355..384
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            385..541
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             461..2296
                     /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_001361780.1"
                     /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            542..3831
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3809..3814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      3831
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="major polyA site"
ORIGIN      
        1 cccaggccag cctaccggcg actaggatgc tttcgctttc gctctcgctt tccaatactc
       61 gggactgggg aaaccgggag aatagaagca ggtgtcccca gcgcagccaa tcggcttccg
      121 aagtaggtga gttgctgcct gaagagaaaa gacaaactcc agtatctttc attccattgg
      181 ccagacgcgc cattccccaa gtgagttctg ttctccaacc aaagtgctgg attccaaggg
      241 actggaaggg aaagtcccta aaaatcacga gttcaggcgt ctgagacttg gtgggaacgg
      301 accttcctct taggataaaa tactctaagt gacaaatgtt gagtacatta tcaggttctc
      361 tgctgtttaa aaagtatccc tgtgctttga agatactgct ataatttgaa aatttgaaat
      421 tagtgtttca gctgaaccat ccgttcatct tcaagccatc atgagctgta agaagcagag
      481 gtcacggaag cactcagtca atgaaaaatg taatatgaaa atcgagcact atttttctcc
      541 ggtctctaaa gagcaacaga ataattgcag tacttctcta atgaggatgg agtctagagg
      601 agacccaaga gccacaacta atacccaggc tcaaagattc cattcaccta agaaaaatcc
      661 agaagaccag accatgcccc aaaataggac aatatatgtt accttgaagg taaaccacag
      721 gagaaaccaa gatatgaaac ttaagctcac acatagtgag aatagtagct tatatatggc
      781 tctcaacact ctccaggctg tcagaaaaga gatagaaact caccaaggcc aagaaatgct
      841 tgtgcgtggc acagaaggaa tcaaagagta cataaacctt ggaatgcccc tcagttgttt
      901 ccctgaaggt ggccaggtgg tcattacatt ttcccaaagt aaaagtaagc agaaggaaga
      961 taaccacata tttggcaggc aggacaaagc atcgactgaa tgtgtcaaat tttacattca
     1021 tgcaattgga attgggaagt gtaaaagaag gattgttaaa tgtgggaagc ttcacaaaaa
     1081 ggggcgcaaa ctctgtgttt atgctttcaa aggagaaacc atcaaggatg cactgtgcaa
     1141 ggatggcaga tttctttcct ttctggagaa tgatgattgg aaactcattg aaaacaatga
     1201 caccatttta gaaagcaccc agccagttga tgaattagaa ggcagatact ttcaggttga
     1261 ggttgagaaa agaatggtcc ccagtgcagc agcttctcag aatcctgagt cagagaaaag
     1321 aaacacctgt gtgttgagag aacaaatcgt ggctcagtac cccagtttga aaagagaaag
     1381 tgaaaaaatc attgaaaact tcaagaaaaa aatgaaagta aaaaatgggg aaacattatt
     1441 tgaattgcat agaacaacgt ttgggaaagt aacaaaaaat tcttcttcga ttaaagtagt
     1501 gaaacttctt gtacgtctca gtgactcagt tgggtactta ttctgggaca gtgcaactac
     1561 gggttacgcc acctgctttg tttttaaagg attgttcatt ttaacttgtc ggcatgtaat
     1621 agatagcatt gtgggagacg gaatagagcc aagtaagtgg gcaaccataa ttggtcaatg
     1681 tgtaagggtg acatttggtt atgaagagct aaaagacaag gaaacaaact acttttttgt
     1741 tgaaccttgg tttgagatac ataatgaaga gcttgactat gctgtcctga aactgaagga
     1801 aaatggacaa caagtaccta tggaactata taatggaatt actcctgtgc cacttagtgg
     1861 gttgatacat attattggcc atccatatgg agaaaaaaag cagattgatg cttgtgctgt
     1921 gatccctcag ggtcagcgag caaagaaatg tcaggaacgt gttcagtcta aaaaagcaga
     1981 aagtccagag tatgtccata tgtatactca aagaagtttc cagaaaatag ttcacaaccc
     2041 tgatgtgatt acctatgaca ctgaattttt ctttggggct tccggctccc ctgtgtttga
     2101 ttcaaaaggt tcattggtgg ccatgcatgc tgctggcttt gcttatactt accaaaatga
     2161 gactcgtagt atcattgagt ttggctctac catggaatcc atcctccttg atattaagca
     2221 aagacataaa ccatggtatg aagaagtatt tgtaaatcag caggatgtag aaatgatgag
     2281 tgatgaggac ttgtgagaat tcagtctact ggatttaagg gaatggctta tggagttgtt
     2341 atttcatagg cattgaaaat ggttttctaa actccaaaat ggtcatctta tcaataataa
     2401 taatattgac catttcctat ctgccaggca tttttctaag cacatgaaga aattagtcct
     2461 aacaacacta tgagatggac tataacttgc ccaaattttt tttttttttt tgagactgag
     2521 tctcactctg tcgcctgggc tggagtacag tggtgcgatc tcagctcact gcaacttcca
     2581 cctcccaggt tcaagcgatt cttatgcctc agtctcctga gcagctggga ttacaggcaa
     2641 acgccaccac acccagctaa attttttttt ttttttttgt atttttagta gagacagggt
     2701 ttcaccatgt tggtcaggcg ggtctcgaac tcctgacctc gtgatccacc tgcctcggcc
     2761 ttccaaagtg ctgggattac aagtttgagc cactgcacct ggctaacttg ccctatttta
     2821 aagtcaagca atgggaagaa taacaagatt atatagtaat cagtttcatg acactaaaag
     2881 tcatatagtc atagggtttt ttcatctttc atatctttgc ctaaattcat ttgctacagt
     2941 gcaggaacca aaacttgttc atctcatgat tccctacatc tgacataagg aaagtaagtg
     3001 ctcagaaaaa tgtgcaggtc aataagttgc aaaagttggg gctgcaatta atgctaacat
     3061 aagagctaaa tgcttgatta gaaatgatct caaaaccttt tagaatttcc aaaatcttca
     3121 tattactgaa actgtcggaa tatatgggtc ttgaaattca gaagatgata gtcactcttc
     3181 ccatatttat aggctattaa ggcaagggat atcttaaaca tcatattact ttatttagat
     3241 ttctactact ccaattatta atgttatgta tttctcattg ttttacttct tcatggtatt
     3301 atgaagacta tatagatgat tcaaccaagc ctgcaaatct ccctcttgtg gaattccact
     3361 ggacccaatc tgttttccat ttccattgca atactactaa agccatacaa tatcaagcac
     3421 cctccctcta ggtccaggga ctatcacaga agaagcaggc atgtaagatt ttaaggactg
     3481 gtttcgaggg gtcgagtgta ggaaaacagc ctgttgcatt gtaagagtga tgtcatcttg
     3541 aagagcagct ggcatgatga ctgctgtttg actcctgcat accaagatat tctgcagcaa
     3601 tgtctttaaa cagtgccggt agtacagata acccctcata aagatgctta tctaacctcc
     3661 ccagtgttca ggtgtttcac aagaaagtct gagatatgac tagctacacg ttttgccaaa
     3721 aatgcttgtt atataaaggg tacttttggg agggtgagtg ccgccattta gtggctgcta
     3781 gaaacattgc ttctgtttgt aagttcctat taaatgtttc tttctgagaa a
//
