LOCUS       NM_001369457            3435 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 11, mRNA.
ACCESSION   NM_001369457
VERSION     NM_001369457.1
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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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 3435)
  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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR6380201.337.3, SRR6380201.337.15
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AP001258.4         89561-89595
            36-145              AP001258.4         93543-93652
            146-3435            AP001258.4         96449-99738
FEATURES             Location/Qualifiers
     source          1..3435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3435
                     /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..145
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1900
                     /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_001356386.1"
                     /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            146..3435
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3413..3418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      3435
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="major polyA site"
ORIGIN      
        1 gctggattcc aggccgagtg ctggcgaggc gcgcactgaa ccatccgttc atcttcaagc
       61 catcatgagc tgtaagaagc agaggtcacg gaagcactca gtcaatgaaa aatgtaatat
      121 gaaaatcgag cactattttt ctccggtctc taaagagcaa cagaataatt gcagtacttc
      181 tctaatgagg atggagtcta gaggagaccc aagagccaca actaataccc aggctcaaag
      241 attccattca cctaagaaaa atccagaaga ccagaccatg ccccaaaata ggacaatata
      301 tgttaccttg aaggtaaacc acaggagaaa ccaagatatg aaacttaagc tcacacatag
      361 tgagaatagt agcttatata tggctctcaa cactctccag gctgtcagaa aagagataga
      421 aactcaccaa ggccaagaaa tgcttgtgcg tggcacagaa ggaatcaaag agtacataaa
      481 ccttggaatg cccctcagtt gtttccctga aggtggccag gtggtcatta cattttccca
      541 aagtaaaagt aagcagaagg aagataacca catatttggc aggcaggaca aagcatcgac
      601 tgaatgtgtc aaattttaca ttcatgcaat tggaattggg aagtgtaaaa gaaggattgt
      661 taaatgtggg aagcttcaca aaaaggggcg caaactctgt gtttatgctt tcaaaggaga
      721 aaccatcaag gatgcactgt gcaaggatgg cagatttctt tcctttctgg agaatgatga
      781 ttggaaactc attgaaaaca atgacaccat tttagaaagc acccagccag ttgatgaatt
      841 agaaggcaga tactttcagg ttgaggttga gaaaagaatg gtccccagtg cagcagcttc
      901 tcagaatcct gagtcagaga aaagaaacac ctgtgtgttg agagaacaaa tcgtggctca
      961 gtaccccagt ttgaaaagag aaagtgaaaa aatcattgaa aacttcaaga aaaaaatgaa
     1021 agtaaaaaat ggggaaacat tatttgaatt gcatagaaca acgtttggga aagtaacaaa
     1081 aaattcttct tcgattaaag tagtgaaact tcttgtacgt ctcagtgact cagttgggta
     1141 cttattctgg gacagtgcaa ctacgggtta cgccacctgc tttgttttta aaggattgtt
     1201 cattttaact tgtcggcatg taatagatag cattgtggga gacggaatag agccaagtaa
     1261 gtgggcaacc ataattggtc aatgtgtaag ggtgacattt ggttatgaag agctaaaaga
     1321 caaggaaaca aactactttt ttgttgaacc ttggtttgag atacataatg aagagcttga
     1381 ctatgctgtc ctgaaactga aggaaaatgg acaacaagta cctatggaac tatataatgg
     1441 aattactcct gtgccactta gtgggttgat acatattatt ggccatccat atggagaaaa
     1501 aaagcagatt gatgcttgtg ctgtgatccc tcagggtcag cgagcaaaga aatgtcagga
     1561 acgtgttcag tctaaaaaag cagaaagtcc agagtatgtc catatgtata ctcaaagaag
     1621 tttccagaaa atagttcaca accctgatgt gattacctat gacactgaat ttttctttgg
     1681 ggcttccggc tcccctgtgt ttgattcaaa aggttcattg gtggccatgc atgctgctgg
     1741 ctttgcttat acttaccaaa atgagactcg tagtatcatt gagtttggct ctaccatgga
     1801 atccatcctc cttgatatta agcaaagaca taaaccatgg tatgaagaag tatttgtaaa
     1861 tcagcaggat gtagaaatga tgagtgatga ggacttgtga gaattcagtc tactggattt
     1921 aagggaatgg cttatggagt tgttatttca taggcattga aaatggtttt ctaaactcca
     1981 aaatggtcat cttatcaata ataataatat tgaccatttc ctatctgcca ggcatttttc
     2041 taagcacatg aagaaattag tcctaacaac actatgagat ggactataac ttgcccaaat
     2101 tttttttttt tttttgagac tgagtctcac tctgtcgcct gggctggagt acagtggtgc
     2161 gatctcagct cactgcaact tccacctccc aggttcaagc gattcttatg cctcagtctc
     2221 ctgagcagct gggattacag gcaaacgcca ccacacccag ctaaattttt tttttttttt
     2281 ttgtattttt agtagagaca gggtttcacc atgttggtca ggcgggtctc gaactcctga
     2341 cctcgtgatc cacctgcctc ggccttccaa agtgctggga ttacaagttt gagccactgc
     2401 acctggctaa cttgccctat tttaaagtca agcaatggga agaataacaa gattatatag
     2461 taatcagttt catgacacta aaagtcatat agtcataggg ttttttcatc tttcatatct
     2521 ttgcctaaat tcatttgcta cagtgcagga accaaaactt gttcatctca tgattcccta
     2581 catctgacat aaggaaagta agtgctcaga aaaatgtgca ggtcaataag ttgcaaaagt
     2641 tggggctgca attaatgcta acataagagc taaatgcttg attagaaatg atctcaaaac
     2701 cttttagaat ttccaaaatc ttcatattac tgaaactgtc ggaatatatg ggtcttgaaa
     2761 ttcagaagat gatagtcact cttcccatat ttataggcta ttaaggcaag ggatatctta
     2821 aacatcatat tactttattt agatttctac tactccaatt attaatgtta tgtatttctc
     2881 attgttttac ttcttcatgg tattatgaag actatataga tgattcaacc aagcctgcaa
     2941 atctccctct tgtggaattc cactggaccc aatctgtttt ccatttccat tgcaatacta
     3001 ctaaagccat acaatatcaa gcaccctccc tctaggtcca gggactatca cagaagaagc
     3061 aggcatgtaa gattttaagg actggtttcg aggggtcgag tgtaggaaaa cagcctgttg
     3121 cattgtaaga gtgatgtcat cttgaagagc agctggcatg atgactgctg tttgactcct
     3181 gcataccaag atattctgca gcaatgtctt taaacagtgc cggtagtaca gataacccct
     3241 cataaagatg cttatctaac ctccccagtg ttcaggtgtt tcacaagaaa gtctgagata
     3301 tgactagcta cacgttttgc caaaaatgct tgttatataa agggtacttt tgggagggtg
     3361 agtgccgcca tttagtggct gctagaaaca ttgcttctgt ttgtaagttc ctattaaatg
     3421 tttctttctg agaaa
//
