LOCUS       NM_001312909            3989 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens FAM111 trypsin like peptidase A (FAM111A), transcript
            variant 6, mRNA.
ACCESSION   NM_001312909
VERSION     NM_001312909.2
KEYWORDS    RefSeq; MANE Select.
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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 3989)
  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 DA326596.1, DB234701.1,
            DB218857.1, DA502464.1, AK291453.1 and AK025319.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001312909.1.
            
            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].
            
            Transcript Variant: This variant (6) represents the longest
            transcript. All variants (1-8) encode the same protein.
            
            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 :: SRR1660803.181222.1,
                                           DRR138507.17641.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675163.1/ ENSP00000501952.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                DA326596.1         111-166
            57-633              DB234701.1         1-577
            634-780             DB218857.1         407-553
            781-948             DA502464.1         387-554
            949-2745            AK291453.1         521-2317
            2746-2836           AK025319.1         773-863
            2837-3989           AK025319.1         865-2017
FEATURES             Location/Qualifiers
     source          1..3989
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3989
                     /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..512
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            513..542
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     exon            543..699
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             619..2454
                     /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_001299838.1"
                     /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            700..3989
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3967..3972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /note="hexamer: ATTAAA"
     polyA_site      3989
                     /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 aggttctctg ctgtttaaaa agtatccctg
      541 tgctttgaag atactgctat aatttgaaaa tttgaaatta gtgtttcagc tgaaccatcc
      601 gttcatcttc aagccatcat gagctgtaag aagcagaggt cacggaagca ctcagtcaat
      661 gaaaaatgta atatgaaaat cgagcactat ttttctccgg tctctaaaga gcaacagaat
      721 aattgcagta cttctctaat gaggatggag tctagaggag acccaagagc cacaactaat
      781 acccaggctc aaagattcca ttcacctaag aaaaatccag aagaccagac catgccccaa
      841 aataggacaa tatatgttac cttgaaggta aaccacagga gaaaccaaga tatgaaactt
      901 aagctcacac atagtgagaa tagtagctta tatatggctc tcaacactct ccaggctgtc
      961 agaaaagaga tagaaactca ccaaggccaa gaaatgcttg tgcgtggcac agaaggaatc
     1021 aaagagtaca taaaccttgg aatgcccctc agttgtttcc ctgaaggtgg ccaggtggtc
     1081 attacatttt cccaaagtaa aagtaagcag aaggaagata accacatatt tggcaggcag
     1141 gacaaagcat cgactgaatg tgtcaaattt tacattcatg caattggaat tgggaagtgt
     1201 aaaagaagga ttgttaaatg tgggaagctt cacaaaaagg ggcgcaaact ctgtgtttat
     1261 gctttcaaag gagaaaccat caaggatgca ctgtgcaagg atggcagatt tctttccttt
     1321 ctggagaatg atgattggaa actcattgaa aacaatgaca ccattttaga aagcacccag
     1381 ccagttgatg aattagaagg cagatacttt caggttgagg ttgagaaaag aatggtcccc
     1441 agtgcagcag cttctcagaa tcctgagtca gagaaaagaa acacctgtgt gttgagagaa
     1501 caaatcgtgg ctcagtaccc cagtttgaaa agagaaagtg aaaaaatcat tgaaaacttc
     1561 aagaaaaaaa tgaaagtaaa aaatggggaa acattatttg aattgcatag aacaacgttt
     1621 gggaaagtaa caaaaaattc ttcttcgatt aaagtagtga aacttcttgt acgtctcagt
     1681 gactcagttg ggtacttatt ctgggacagt gcaactacgg gttacgccac ctgctttgtt
     1741 tttaaaggat tgttcatttt aacttgtcgg catgtaatag atagcattgt gggagacgga
     1801 atagagccaa gtaagtgggc aaccataatt ggtcaatgtg taagggtgac atttggttat
     1861 gaagagctaa aagacaagga aacaaactac ttttttgttg aaccttggtt tgagatacat
     1921 aatgaagagc ttgactatgc tgtcctgaaa ctgaaggaaa atggacaaca agtacctatg
     1981 gaactatata atggaattac tcctgtgcca cttagtgggt tgatacatat tattggccat
     2041 ccatatggag aaaaaaagca gattgatgct tgtgctgtga tccctcaggg tcagcgagca
     2101 aagaaatgtc aggaacgtgt tcagtctaaa aaagcagaaa gtccagagta tgtccatatg
     2161 tatactcaaa gaagtttcca gaaaatagtt cacaaccctg atgtgattac ctatgacact
     2221 gaatttttct ttggggcttc cggctcccct gtgtttgatt caaaaggttc attggtggcc
     2281 atgcatgctg ctggctttgc ttatacttac caaaatgaga ctcgtagtat cattgagttt
     2341 ggctctacca tggaatccat cctccttgat attaagcaaa gacataaacc atggtatgaa
     2401 gaagtatttg taaatcagca ggatgtagaa atgatgagtg atgaggactt gtgagaattc
     2461 agtctactgg atttaaggga atggcttatg gagttgttat ttcataggca ttgaaaatgg
     2521 ttttctaaac tccaaaatgg tcatcttatc aataataata atattgacca tttcctatct
     2581 gccaggcatt tttctaagca catgaagaaa ttagtcctaa caacactatg agatggacta
     2641 taacttgccc aaattttttt tttttttttg agactgagtc tcactctgtc gcctgggctg
     2701 gagtacagtg gtgcgatctc agctcactgc aacttccacc tcccaggttc aagcgattct
     2761 tatgcctcag tctcctgagc agctgggatt acaggcaaac gccaccacac ccagctaaat
     2821 tttttttttt ttttttgtat ttttagtaga gacagggttt caccatgttg gtcaggcggg
     2881 tctcgaactc ctgacctcgt gatccacctg cctcggcctt ccaaagtgct gggattacaa
     2941 gtttgagcca ctgcacctgg ctaacttgcc ctattttaaa gtcaagcaat gggaagaata
     3001 acaagattat atagtaatca gtttcatgac actaaaagtc atatagtcat agggtttttt
     3061 catctttcat atctttgcct aaattcattt gctacagtgc aggaaccaaa acttgttcat
     3121 ctcatgattc cctacatctg acataaggaa agtaagtgct cagaaaaatg tgcaggtcaa
     3181 taagttgcaa aagttggggc tgcaattaat gctaacataa gagctaaatg cttgattaga
     3241 aatgatctca aaacctttta gaatttccaa aatcttcata ttactgaaac tgtcggaata
     3301 tatgggtctt gaaattcaga agatgatagt cactcttccc atatttatag gctattaagg
     3361 caagggatat cttaaacatc atattacttt atttagattt ctactactcc aattattaat
     3421 gttatgtatt tctcattgtt ttacttcttc atggtattat gaagactata tagatgattc
     3481 aaccaagcct gcaaatctcc ctcttgtgga attccactgg acccaatctg ttttccattt
     3541 ccattgcaat actactaaag ccatacaata tcaagcaccc tccctctagg tccagggact
     3601 atcacagaag aagcaggcat gtaagatttt aaggactggt ttcgaggggt cgagtgtagg
     3661 aaaacagcct gttgcattgt aagagtgatg tcatcttgaa gagcagctgg catgatgact
     3721 gctgtttgac tcctgcatac caagatattc tgcagcaatg tctttaaaca gtgccggtag
     3781 tacagataac ccctcataaa gatgcttatc taacctcccc agtgttcagg tgtttcacaa
     3841 gaaagtctga gatatgacta gctacacgtt ttgccaaaaa tgcttgttat ataaagggta
     3901 cttttgggag ggtgagtgcc gccatttagt ggctgctaga aacattgctt ctgtttgtaa
     3961 gttcctatta aatgtttctt tctgagaaa
//
