LOCUS       NM_001374864            6120 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 29, mRNA.
ACCESSION   NM_001374864
VERSION     NM_001374864.1
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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 6120)
  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 :: SRR14038191.1414646.1,
                                           SRR14038197.2078167.1 [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
            314-2673            AP001258.4         88196-90555
            2674-2830           AP001258.4         93496-93652
            2831-6120           AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..6120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..6120
                     /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..2673
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2674..2830
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             2750..4585
                     /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_001361793.1"
                     /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            2831..6120
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6098..6103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      6120
                     /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 tagtgcccaa gcctgttcta atttttaaaa actgatgtct attaagaccc
      361 aatgttaact ttatgaaaat ggttcctaag gagattcaca tctctgtgtc cgaattctgt
      421 gtgcagcaaa catcatctca agtgcgtttt cccaactacg cttctttcca ggataaaata
      481 ctctaagtga caaatgttga gtacattatc aggtatgttc actattgtga gaactgaagc
      541 catctacact cacatagctt gccaactaca ttaacctgac ttcttattcc attattttca
      601 tcaacataca tttactattt caagaaactt ttgccaggga ccggaaagtt gcaaatatct
      661 ttattgctta atccagtatc ttcttcaaag atccaaccac tcttcaatgg aaaacatcaa
      721 agaacagttt acattctaag actttgaacc tttacctcaa aatcctagcc ttgttttatc
      781 taccaatcct aaacttttac ccgtagctga ctcaattcta accaattccc ctcattaaat
      841 attagactta caatgggact tcaaaatctc aatacatata gcccaaactt gctcttccct
      901 ctctgagaca ccacttaaat tctgtcaagt tattgttctc cattacctaa gtgagcaaga
      961 aacttagctt tgtcttatca acaggttgct ttgatattac tgggagccaa catttgacat
     1021 tcttggaggc tccagcaaga cctaatcaac ctcccaaccc tcaactcaga atcagtgtgt
     1081 gccctgaagt cccttcaacc ttcttgaggc tctccctgat ctcaaaggtg gagaaagtag
     1141 atcttgcatc aggttgaact ccagtttctt tttgctcagt ttttcaagcg ctgagtttat
     1201 tttgtcccta ggcataaaga aatctttcta ggaacccctt tggttatggg accagatttt
     1261 taaaagcttt ttaggcttgg tgaaaaatct gccttatcac tagcaacact acgacttgtc
     1321 tctgttcttg ttttttgttg tactcgtgta aaagaaaagt tcaagggaag agaacaggct
     1381 caagtctact tctcacgctg gctctgggga ttaggaaatt cagaaagttt tgtttcagac
     1441 tggcagtgct gtctgatata aacacagcgt caagtactgc acgctgtagc tacctgaggt
     1501 ttaggccgga agaggcacgg ctgatttaaa agtgaaagaa agtaaccaat tggttcgcag
     1561 acaacctttt cccaaaaggc gggcgattca aacccctagc cccacctgct ccgtttcccg
     1621 cccagctgga gctctggagc ctttgcttcc tcaaatacga gcgggaactg cgttgagcgc
     1681 tggattccag gccgagtgct ggcgaggcgc gcagtgagtg agcacacagg gcgctggggt
     1741 gctccgcggg gcgcggtcac gggcgcggcc gcggcgggct cgagtcccgg ctgggaggag
     1801 aaggagctgg gtgtcaggaa gccggggact gacagcgcca cccatctggg gagccgggag
     1861 gacacaggtt ttattttggt agtgctgcaa gtccccttgt gtgctggggg gagcggggcg
     1921 gcgtggtagg attggaagag gcttagagtt ggcctcgacc cctgcccttg cccctggaaa
     1981 ggcagaaagt gggggttggg gtgcggagaa gcaggaagag agggagagtg aaggagggga
     2041 ggaaagggag agaggaagag ggagagtgaa ggaggggagg aaagggagag aggcagagag
     2101 ggggaaggag agagggaagg aaggagagat tgagagacag agaaattcct aaggggagct
     2161 gtcaggtggg ctggacatgg gccccaggct gcactgcttt atccctttgc tgtaggaagt
     2221 caagcaagtt ctttaggtaa gtagaacctt gatgtcaagt ataaaacagg ggttggtata
     2281 ggatagctaa gagcacttta tattttgata taatctgatt tatcctggat actgaaaaca
     2341 atgtagggag acggaggata ttggagtgtt ttcttaacct cttgcccctt tccactgtga
     2401 ttgctcaagt acatgcaaaa ttaatgtttc tttctgccca ttttattttc ctttttttgt
     2461 ctgtgtctat taatcattcc taaagcaccc ggatcctctc tcaaacttcg taagatgaga
     2521 catcatgaac agacacagtg aatccctaga ttttcttaat agttgggcaa caagttcttg
     2581 catttaggga tgttgcaaca tagcccagtt ccgcaattgt acattttcta ttttttttcc
     2641 taggttctct gctgtttaaa aagtatccct gtgctttgaa gatactgcta taatttgaaa
     2701 atttgaaatt agtgtttcag ctgaaccatc cgttcatctt caagccatca tgagctgtaa
     2761 gaagcagagg tcacggaagc actcagtcaa tgaaaaatgt aatatgaaaa tcgagcacta
     2821 tttttctccg gtctctaaag agcaacagaa taattgcagt acttctctaa tgaggatgga
     2881 gtctagagga gacccaagag ccacaactaa tacccaggct caaagattcc attcacctaa
     2941 gaaaaatcca gaagaccaga ccatgcccca aaataggaca atatatgtta ccttgaaggt
     3001 aaaccacagg agaaaccaag atatgaaact taagctcaca catagtgaga atagtagctt
     3061 atatatggct ctcaacactc tccaggctgt cagaaaagag atagaaactc accaaggcca
     3121 agaaatgctt gtgcgtggca cagaaggaat caaagagtac ataaaccttg gaatgcccct
     3181 cagttgtttc cctgaaggtg gccaggtggt cattacattt tcccaaagta aaagtaagca
     3241 gaaggaagat aaccacatat ttggcaggca ggacaaagca tcgactgaat gtgtcaaatt
     3301 ttacattcat gcaattggaa ttgggaagtg taaaagaagg attgttaaat gtgggaagct
     3361 tcacaaaaag gggcgcaaac tctgtgttta tgctttcaaa ggagaaacca tcaaggatgc
     3421 actgtgcaag gatggcagat ttctttcctt tctggagaat gatgattgga aactcattga
     3481 aaacaatgac accattttag aaagcaccca gccagttgat gaattagaag gcagatactt
     3541 tcaggttgag gttgagaaaa gaatggtccc cagtgcagca gcttctcaga atcctgagtc
     3601 agagaaaaga aacacctgtg tgttgagaga acaaatcgtg gctcagtacc ccagtttgaa
     3661 aagagaaagt gaaaaaatca ttgaaaactt caagaaaaaa atgaaagtaa aaaatgggga
     3721 aacattattt gaattgcata gaacaacgtt tgggaaagta acaaaaaatt cttcttcgat
     3781 taaagtagtg aaacttcttg tacgtctcag tgactcagtt gggtacttat tctgggacag
     3841 tgcaactacg ggttacgcca cctgctttgt ttttaaagga ttgttcattt taacttgtcg
     3901 gcatgtaata gatagcattg tgggagacgg aatagagcca agtaagtggg caaccataat
     3961 tggtcaatgt gtaagggtga catttggtta tgaagagcta aaagacaagg aaacaaacta
     4021 cttttttgtt gaaccttggt ttgagataca taatgaagag cttgactatg ctgtcctgaa
     4081 actgaaggaa aatggacaac aagtacctat ggaactatat aatggaatta ctcctgtgcc
     4141 acttagtggg ttgatacata ttattggcca tccatatgga gaaaaaaagc agattgatgc
     4201 ttgtgctgtg atccctcagg gtcagcgagc aaagaaatgt caggaacgtg ttcagtctaa
     4261 aaaagcagaa agtccagagt atgtccatat gtatactcaa agaagtttcc agaaaatagt
     4321 tcacaaccct gatgtgatta cctatgacac tgaatttttc tttggggctt ccggctcccc
     4381 tgtgtttgat tcaaaaggtt cattggtggc catgcatgct gctggctttg cttatactta
     4441 ccaaaatgag actcgtagta tcattgagtt tggctctacc atggaatcca tcctccttga
     4501 tattaagcaa agacataaac catggtatga agaagtattt gtaaatcagc aggatgtaga
     4561 aatgatgagt gatgaggact tgtgagaatt cagtctactg gatttaaggg aatggcttat
     4621 ggagttgtta tttcataggc attgaaaatg gttttctaaa ctccaaaatg gtcatcttat
     4681 caataataat aatattgacc atttcctatc tgccaggcat ttttctaagc acatgaagaa
     4741 attagtccta acaacactat gagatggact ataacttgcc caaatttttt tttttttttt
     4801 gagactgagt ctcactctgt cgcctgggct ggagtacagt ggtgcgatct cagctcactg
     4861 caacttccac ctcccaggtt caagcgattc ttatgcctca gtctcctgag cagctgggat
     4921 tacaggcaaa cgccaccaca cccagctaaa tttttttttt tttttttgta tttttagtag
     4981 agacagggtt tcaccatgtt ggtcaggcgg gtctcgaact cctgacctcg tgatccacct
     5041 gcctcggcct tccaaagtgc tgggattaca agtttgagcc actgcacctg gctaacttgc
     5101 cctattttaa agtcaagcaa tgggaagaat aacaagatta tatagtaatc agtttcatga
     5161 cactaaaagt catatagtca tagggttttt tcatctttca tatctttgcc taaattcatt
     5221 tgctacagtg caggaaccaa aacttgttca tctcatgatt ccctacatct gacataagga
     5281 aagtaagtgc tcagaaaaat gtgcaggtca ataagttgca aaagttgggg ctgcaattaa
     5341 tgctaacata agagctaaat gcttgattag aaatgatctc aaaacctttt agaatttcca
     5401 aaatcttcat attactgaaa ctgtcggaat atatgggtct tgaaattcag aagatgatag
     5461 tcactcttcc catatttata ggctattaag gcaagggata tcttaaacat catattactt
     5521 tatttagatt tctactactc caattattaa tgttatgtat ttctcattgt tttacttctt
     5581 catggtatta tgaagactat atagatgatt caaccaagcc tgcaaatctc cctcttgtgg
     5641 aattccactg gacccaatct gttttccatt tccattgcaa tactactaaa gccatacaat
     5701 atcaagcacc ctccctctag gtccagggac tatcacagaa gaagcaggca tgtaagattt
     5761 taaggactgg tttcgagggg tcgagtgtag gaaaacagcc tgttgcattg taagagtgat
     5821 gtcatcttga agagcagctg gcatgatgac tgctgtttga ctcctgcata ccaagatatt
     5881 ctgcagcaat gtctttaaac agtgccggta gtacagataa cccctcataa agatgcttat
     5941 ctaacctccc cagtgttcag gtgtttcaca agaaagtctg agatatgact agctacacgt
     6001 tttgccaaaa atgcttgtta tataaagggt acttttggga gggtgagtgc cgccatttag
     6061 tggctgctag aaacattgct tctgtttgta agttcctatt aaatgtttct ttctgagaaa
//
