LOCUS       NM_001374861            6143 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 26, mRNA.
ACCESSION   NM_001374861
VERSION     NM_001374861.1
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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 6143)
  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 :: SRR14038197.891579.1,
                                           SRR14038191.1979028.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               AP001258.4         87555-87668
            115-336             AP001258.4         87782-88003
            337-2696            AP001258.4         88196-90555
            2697-2853           AP001258.4         93496-93652
            2854-6143           AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..6143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..6143
                     /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..2696
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2697..2853
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             2773..4608
                     /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_001361790.1"
                     /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            2854..6143
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6121..6126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      6143
                     /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 tcttagtgcc caagcctgtt ctaattttta
      361 aaaactgatg tctattaaga cccaatgtta actttatgaa aatggttcct aaggagattc
      421 acatctctgt gtccgaattc tgtgtgcagc aaacatcatc tcaagtgcgt tttcccaact
      481 acgcttcttt ccaggataaa atactctaag tgacaaatgt tgagtacatt atcaggtatg
      541 ttcactattg tgagaactga agccatctac actcacatag cttgccaact acattaacct
      601 gacttcttat tccattattt tcatcaacat acatttacta tttcaagaaa cttttgccag
      661 ggaccggaaa gttgcaaata tctttattgc ttaatccagt atcttcttca aagatccaac
      721 cactcttcaa tggaaaacat caaagaacag tttacattct aagactttga acctttacct
      781 caaaatccta gccttgtttt atctaccaat cctaaacttt tacccgtagc tgactcaatt
      841 ctaaccaatt cccctcatta aatattagac ttacaatggg acttcaaaat ctcaatacat
      901 atagcccaaa cttgctcttc cctctctgag acaccactta aattctgtca agttattgtt
      961 ctccattacc taagtgagca agaaacttag ctttgtctta tcaacaggtt gctttgatat
     1021 tactgggagc caacatttga cattcttgga ggctccagca agacctaatc aacctcccaa
     1081 ccctcaactc agaatcagtg tgtgccctga agtcccttca accttcttga ggctctccct
     1141 gatctcaaag gtggagaaag tagatcttgc atcaggttga actccagttt ctttttgctc
     1201 agtttttcaa gcgctgagtt tattttgtcc ctaggcataa agaaatcttt ctaggaaccc
     1261 ctttggttat gggaccagat ttttaaaagc tttttaggct tggtgaaaaa tctgccttat
     1321 cactagcaac actacgactt gtctctgttc ttgttttttg ttgtactcgt gtaaaagaaa
     1381 agttcaaggg aagagaacag gctcaagtct acttctcacg ctggctctgg ggattaggaa
     1441 attcagaaag ttttgtttca gactggcagt gctgtctgat ataaacacag cgtcaagtac
     1501 tgcacgctgt agctacctga ggtttaggcc ggaagaggca cggctgattt aaaagtgaaa
     1561 gaaagtaacc aattggttcg cagacaacct tttcccaaaa ggcgggcgat tcaaacccct
     1621 agccccacct gctccgtttc ccgcccagct ggagctctgg agcctttgct tcctcaaata
     1681 cgagcgggaa ctgcgttgag cgctggattc caggccgagt gctggcgagg cgcgcagtga
     1741 gtgagcacac agggcgctgg ggtgctccgc ggggcgcggt cacgggcgcg gccgcggcgg
     1801 gctcgagtcc cggctgggag gagaaggagc tgggtgtcag gaagccgggg actgacagcg
     1861 ccacccatct ggggagccgg gaggacacag gttttatttt ggtagtgctg caagtcccct
     1921 tgtgtgctgg ggggagcggg gcggcgtggt aggattggaa gaggcttaga gttggcctcg
     1981 acccctgccc ttgcccctgg aaaggcagaa agtgggggtt ggggtgcgga gaagcaggaa
     2041 gagagggaga gtgaaggagg ggaggaaagg gagagaggaa gagggagagt gaaggagggg
     2101 aggaaaggga gagaggcaga gagggggaag gagagaggga aggaaggaga gattgagaga
     2161 cagagaaatt cctaagggga gctgtcaggt gggctggaca tgggccccag gctgcactgc
     2221 tttatccctt tgctgtagga agtcaagcaa gttctttagg taagtagaac cttgatgtca
     2281 agtataaaac aggggttggt ataggatagc taagagcact ttatattttg atataatctg
     2341 atttatcctg gatactgaaa acaatgtagg gagacggagg atattggagt gttttcttaa
     2401 cctcttgccc ctttccactg tgattgctca agtacatgca aaattaatgt ttctttctgc
     2461 ccattttatt ttcctttttt tgtctgtgtc tattaatcat tcctaaagca cccggatcct
     2521 ctctcaaact tcgtaagatg agacatcatg aacagacaca gtgaatccct agattttctt
     2581 aatagttggg caacaagttc ttgcatttag ggatgttgca acatagccca gttccgcaat
     2641 tgtacatttt ctattttttt tcctaggttc tctgctgttt aaaaagtatc cctgtgcttt
     2701 gaagatactg ctataatttg aaaatttgaa attagtgttt cagctgaacc atccgttcat
     2761 cttcaagcca tcatgagctg taagaagcag aggtcacgga agcactcagt caatgaaaaa
     2821 tgtaatatga aaatcgagca ctatttttct ccggtctcta aagagcaaca gaataattgc
     2881 agtacttctc taatgaggat ggagtctaga ggagacccaa gagccacaac taatacccag
     2941 gctcaaagat tccattcacc taagaaaaat ccagaagacc agaccatgcc ccaaaatagg
     3001 acaatatatg ttaccttgaa ggtaaaccac aggagaaacc aagatatgaa acttaagctc
     3061 acacatagtg agaatagtag cttatatatg gctctcaaca ctctccaggc tgtcagaaaa
     3121 gagatagaaa ctcaccaagg ccaagaaatg cttgtgcgtg gcacagaagg aatcaaagag
     3181 tacataaacc ttggaatgcc cctcagttgt ttccctgaag gtggccaggt ggtcattaca
     3241 ttttcccaaa gtaaaagtaa gcagaaggaa gataaccaca tatttggcag gcaggacaaa
     3301 gcatcgactg aatgtgtcaa attttacatt catgcaattg gaattgggaa gtgtaaaaga
     3361 aggattgtta aatgtgggaa gcttcacaaa aaggggcgca aactctgtgt ttatgctttc
     3421 aaaggagaaa ccatcaagga tgcactgtgc aaggatggca gatttctttc ctttctggag
     3481 aatgatgatt ggaaactcat tgaaaacaat gacaccattt tagaaagcac ccagccagtt
     3541 gatgaattag aaggcagata ctttcaggtt gaggttgaga aaagaatggt ccccagtgca
     3601 gcagcttctc agaatcctga gtcagagaaa agaaacacct gtgtgttgag agaacaaatc
     3661 gtggctcagt accccagttt gaaaagagaa agtgaaaaaa tcattgaaaa cttcaagaaa
     3721 aaaatgaaag taaaaaatgg ggaaacatta tttgaattgc atagaacaac gtttgggaaa
     3781 gtaacaaaaa attcttcttc gattaaagta gtgaaacttc ttgtacgtct cagtgactca
     3841 gttgggtact tattctggga cagtgcaact acgggttacg ccacctgctt tgtttttaaa
     3901 ggattgttca ttttaacttg tcggcatgta atagatagca ttgtgggaga cggaatagag
     3961 ccaagtaagt gggcaaccat aattggtcaa tgtgtaaggg tgacatttgg ttatgaagag
     4021 ctaaaagaca aggaaacaaa ctactttttt gttgaacctt ggtttgagat acataatgaa
     4081 gagcttgact atgctgtcct gaaactgaag gaaaatggac aacaagtacc tatggaacta
     4141 tataatggaa ttactcctgt gccacttagt gggttgatac atattattgg ccatccatat
     4201 ggagaaaaaa agcagattga tgcttgtgct gtgatccctc agggtcagcg agcaaagaaa
     4261 tgtcaggaac gtgttcagtc taaaaaagca gaaagtccag agtatgtcca tatgtatact
     4321 caaagaagtt tccagaaaat agttcacaac cctgatgtga ttacctatga cactgaattt
     4381 ttctttgggg cttccggctc ccctgtgttt gattcaaaag gttcattggt ggccatgcat
     4441 gctgctggct ttgcttatac ttaccaaaat gagactcgta gtatcattga gtttggctct
     4501 accatggaat ccatcctcct tgatattaag caaagacata aaccatggta tgaagaagta
     4561 tttgtaaatc agcaggatgt agaaatgatg agtgatgagg acttgtgaga attcagtcta
     4621 ctggatttaa gggaatggct tatggagttg ttatttcata ggcattgaaa atggttttct
     4681 aaactccaaa atggtcatct tatcaataat aataatattg accatttcct atctgccagg
     4741 catttttcta agcacatgaa gaaattagtc ctaacaacac tatgagatgg actataactt
     4801 gcccaaattt tttttttttt tttgagactg agtctcactc tgtcgcctgg gctggagtac
     4861 agtggtgcga tctcagctca ctgcaacttc cacctcccag gttcaagcga ttcttatgcc
     4921 tcagtctcct gagcagctgg gattacaggc aaacgccacc acacccagct aaattttttt
     4981 tttttttttt gtatttttag tagagacagg gtttcaccat gttggtcagg cgggtctcga
     5041 actcctgacc tcgtgatcca cctgcctcgg ccttccaaag tgctgggatt acaagtttga
     5101 gccactgcac ctggctaact tgccctattt taaagtcaag caatgggaag aataacaaga
     5161 ttatatagta atcagtttca tgacactaaa agtcatatag tcatagggtt ttttcatctt
     5221 tcatatcttt gcctaaattc atttgctaca gtgcaggaac caaaacttgt tcatctcatg
     5281 attccctaca tctgacataa ggaaagtaag tgctcagaaa aatgtgcagg tcaataagtt
     5341 gcaaaagttg gggctgcaat taatgctaac ataagagcta aatgcttgat tagaaatgat
     5401 ctcaaaacct tttagaattt ccaaaatctt catattactg aaactgtcgg aatatatggg
     5461 tcttgaaatt cagaagatga tagtcactct tcccatattt ataggctatt aaggcaaggg
     5521 atatcttaaa catcatatta ctttatttag atttctacta ctccaattat taatgttatg
     5581 tatttctcat tgttttactt cttcatggta ttatgaagac tatatagatg attcaaccaa
     5641 gcctgcaaat ctccctcttg tggaattcca ctggacccaa tctgttttcc atttccattg
     5701 caatactact aaagccatac aatatcaagc accctccctc taggtccagg gactatcaca
     5761 gaagaagcag gcatgtaaga ttttaaggac tggtttcgag gggtcgagtg taggaaaaca
     5821 gcctgttgca ttgtaagagt gatgtcatct tgaagagcag ctggcatgat gactgctgtt
     5881 tgactcctgc ataccaagat attctgcagc aatgtcttta aacagtgccg gtagtacaga
     5941 taacccctca taaagatgct tatctaacct ccccagtgtt caggtgtttc acaagaaagt
     6001 ctgagatatg actagctaca cgttttgcca aaaatgcttg ttatataaag ggtacttttg
     6061 ggagggtgag tgccgccatt tagtggctgc tagaaacatt gcttctgttt gtaagttcct
     6121 attaaatgtt tctttctgag aaa
//
