LOCUS       NM_182533                727 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens FA core complex associated protein 20 (FAAP20),
            transcript variant 2, mRNA.
ACCESSION   NM_182533 XM_001718861
VERSION     NM_182533.4
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 727)
  AUTHORS   Palovcak,A., Yuan,F., Verdun,R., Luo,L. and Zhang,Y.
  TITLE     Fanconi anemia associated protein 20 (FAAP20) plays an essential
            role in homology-directed repair of DNA double-strand breaks
  JOURNAL   Commun Biol 6 (1), 873 (2023)
   PUBMED   37620397
  REMARK    GeneRIF: Fanconi anemia associated protein 20 (FAAP20) plays an
            essential role in homology-directed repair of DNA double-strand
            breaks.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 727)
  AUTHORS   Nagareddy,B., Khan,A. and Kim,H.
  TITLE     Acetylation modulates the Fanconi anemia pathway by protecting
            FAAP20 from ubiquitin-mediated proteasomal degradation
  JOURNAL   J Biol Chem 295 (40), 13887-13901 (2020)
   PUBMED   32763975
  REMARK    GeneRIF: Acetylation modulates the Fanconi anemia pathway by
            protecting FAAP20 from ubiquitin-mediated proteasomal degradation.
REFERENCE   3  (bases 1 to 727)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 727)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 727)
  AUTHORS   Wang,J., Jo,U., Joo,S.Y. and Kim,H.
  TITLE     FBW7 regulates DNA interstrand cross-link repair by modulating
            FAAP20 degradation
  JOURNAL   Oncotarget 7 (24), 35724-35740 (2016)
   PUBMED   27232758
  REMARK    GeneRIF: Study identify SCF-FBW7 as a ubiquitin E3 ligase that
            regulates the cellular FAAP20 levels and Fanconi anemia (FA)
            pathway. Deregulation of the GSK3beta- and FBW7-dependent FAAP20
            degradation leads to a defect in the FA pathway, establishing a
            direct link between FBW7 and DNA repair.
REFERENCE   6  (bases 1 to 727)
  AUTHORS   Ali,A.M., Pradhan,A., Singh,T.R., Du,C., Li,J., Wahengbam,K.,
            Grassman,E., Auerbach,A.D., Pang,Q. and Meetei,A.R.
  TITLE     FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein
            required for functional integrity of the FA-BRCA DNA repair pathway
  JOURNAL   Blood 119 (14), 3285-3294 (2012)
   PUBMED   22343915
  REMARK    GeneRIF: FAAP20 contains a conserved ubiquitin-binding zinc-finger
            domain and binds K-63-linked ubiquitin chains in vitro. The
            FAAP20-UBZ domain is not required for interaction with FANCA, but
            is required for DNA-damage-induced chromatin loading of FANCA and
            the functional integrity of the Fanconi anemia pathway.
REFERENCE   7  (bases 1 to 727)
  AUTHORS   Leung,J.W., Wang,Y., Fong,K.W., Huen,M.S., Li,L. and Chen,J.
  TITLE     Fanconi anemia (FA) binding protein FAAP20 stabilizes FA
            complementation group A (FANCA) and participates in interstrand
            cross-link repair
  JOURNAL   Proc Natl Acad Sci U S A 109 (12), 4491-4496 (2012)
   PUBMED   22396592
  REMARK    GeneRIF: FAAP20 is an important player involved in the Fanconi
            anemia pathway
REFERENCE   8  (bases 1 to 727)
  AUTHORS   Kim,H., Yang,K., Dejsuphong,D. and D'Andrea,A.D.
  TITLE     Regulation of Rev1 by the Fanconi anemia core complex
  JOURNAL   Nat Struct Mol Biol 19 (2), 164-170 (2012)
   PUBMED   22266823
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 727)
  AUTHORS   Knipscheer,P., Raschle,M., Smogorzewska,A., Enoiu,M., Ho,T.V.,
            Scharer,O.D., Elledge,S.J. and Walter,J.C.
  TITLE     The Fanconi anemia pathway promotes replication-dependent DNA
            interstrand cross-link repair
  JOURNAL   Science 326 (5960), 1698-1701 (2009)
   PUBMED   19965384
REFERENCE   10 (bases 1 to 727)
  AUTHORS   Kutsenko,A.S., Gizatullin,R.Z., Al-Amin,A.N., Wang,F., Kvasha,S.M.,
            Podowski,R.M., Matushkin,Y.G., Gyanchandani,A., Muravenko,O.V.,
            Levitsky,V.G., Kolchanov,N.A., Protopopov,A.I., Kashuba,V.I.,
            Kisselev,L.L., Wasserman,W., Wahlestedt,C. and Zabarovsky,E.R.
  TITLE     NotI flanking sequences: a tool for gene discovery and verification
            of the human genome
  JOURNAL   Nucleic Acids Res 30 (14), 3163-3170 (2002)
   PUBMED   12136098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590822.37.
            
            On May 21, 2020 this sequence version replaced NM_182533.3.
            
            Transcript Variant: This variant (2) encodes isoform 2.
            
            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 :: BC066360.1, BG705592.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378546.9/ ENSP00000367808.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                AL590822.37        51742-51826         c
            86-221              AL590822.37        51052-51187         c
            222-493             AL590822.37        50693-50964         c
            494-727             AL590822.37        46602-46835         c
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..727
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /note="FA core complex associated protein 20"
                     /db_xref="GeneID:199990"
                     /db_xref="HGNC:HGNC:26428"
                     /db_xref="MIM:615183"
     exon            1..85
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..566
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /note="isoform 2 is encoded by transcript variant 2;
                     Fanconi anemia-associated protein of 20 kDa; Fanconi
                     anemia core complex associated protein 20;
                     FANCA-associated protein of 20 kDa"
                     /codon_start=1
                     /product="Fanconi anemia core complex-associated protein
                     20 isoform 2"
                     /protein_id="NP_872339.3"
                     /db_xref="CCDS:CCDS38.2"
                     /db_xref="GeneID:199990"
                     /db_xref="HGNC:HGNC:26428"
                     /db_xref="MIM:615183"
                     /translation="MEAARRPRLGLSRRRPRPAGGPSGGRPWFLLGGDERERLWAELL
                     RTVSPELILDHEVPSLPAFPGQEPRCGPEPTEVFTVGPKTFSWTPFPPDLWGPGRSYR
                     LLHGAGGHLESPARSLPQRPAPDPCRAPRVEQQPSVEGAAALRSCPMCQKEFAPRLTQ
                     LDVDSHLAQCLAESTEDVTW"
     exon            86..221
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /inference="alignment:Splign:2.1.0"
     exon            222..493
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /inference="alignment:Splign:2.1.0"
     exon            494..727
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /inference="alignment:Splign:2.1.0"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /note="hexamer: ATTAAA"
     polyA_site      727
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /note="major polyA site"
ORIGIN      
        1 acttccgccc ggcgcgggct tggatggagg cggcgcggag gccgcggctg gggttgagcc
       61 gccggaggcc gcgcccggcg ggcgggcctt ctggcggccg cccctggttt ctcctggggg
      121 gtgatgagcg ggagcggctc tgggccgagc tactgcgcac ggtgagcccg gagctgatcc
      181 tggatcacga ggtgccttca ctgcccgcct tcccaggaca ggagcccagg tgcggcccgg
      241 agcccactga agtcttcact gtcggaccca agaccttttc ctggacaccc tttccgccgg
      301 acctgtgggg cccgggccgt tcctaccggc tgcttcacgg ggcaggaggg cacctggaat
      361 cccccgccag gtccctgccc cagcgcccgg cacctgatcc ctgcagggcc cccagggtgg
      421 agcagcagcc gtctgtggag ggtgccgcgg ccctgcgcag ctgccccatg tgccagaagg
      481 agttcgcccc caggctgacc cagctggatg ttgacagcca cctggcccag tgcttggccg
      541 aaagcacaga agacgtgacg tggtgagcgc catccaagag ccctgcgcag agtgcggcgc
      601 ccggacacgc tctcccccgc cagcagcccc gcctctcggc tcccccgcca gcagccccgc
      661 ctctcggctc ccccgcatgc gcattaaagc agggcgggct cctgtctgtc tctgtgttgt
      721 gatgaaa
//
