LOCUS       NM_025161               3597 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens FA core complex associated protein 100 (FAAP100),
            transcript variant 2, mRNA.
ACCESSION   NM_025161 NM_001109760
VERSION     NM_025161.6
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 3597)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 3597)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 3597)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3597)
  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 3597)
  AUTHORS   Huang,Y., Leung,J.W., Lowery,M., Matsushita,N., Wang,Y., Shen,X.,
            Huong,D., Takata,M., Chen,J. and Li,L.
  TITLE     Modularized functions of the Fanconi anemia core complex
  JOURNAL   Cell Rep 7 (6), 1849-1857 (2014)
   PUBMED   24910428
  REMARK    Erratum:[Cell Rep. 2016 Mar 22;14(11):2761-3]
REFERENCE   6  (bases 1 to 3597)
  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
REFERENCE   7  (bases 1 to 3597)
  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   8  (bases 1 to 3597)
  AUTHORS   Ling,C., Ishiai,M., Ali,A.M., Medhurst,A.L., Neveling,K., Kalb,R.,
            Yan,Z., Xue,Y., Oostra,A.B., Auerbach,A.D., Hoatlin,M.E.,
            Schindler,D., Joenje,H., de Winter,J.P., Takata,M., Meetei,A.R. and
            Wang,W.
  TITLE     FAAP100 is essential for activation of the Fanconi
            anemia-associated DNA damage response pathway
  JOURNAL   EMBO J 26 (8), 2104-2114 (2007)
   PUBMED   17396147
  REMARK    GeneRIF: FAAP100 as a new critical component of the FA-BRCA DNA
            damage response network.
REFERENCE   9  (bases 1 to 3597)
  AUTHORS   Meetei,A.R., de Winter,J.P., Medhurst,A.L., Wallisch,M.,
            Waisfisz,Q., van de Vrugt,H.J., Oostra,A.B., Yan,Z., Ling,C.,
            Bishop,C.E., Hoatlin,M.E., Joenje,H. and Wang,W.
  TITLE     A novel ubiquitin ligase is deficient in Fanconi anemia
  JOURNAL   Nat Genet 35 (2), 165-170 (2003)
   PUBMED   12973351
REFERENCE   10 (bases 1 to 3597)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ989324.1, AL834374.1, AC137896.5 and DA103390.1.
            
            On Nov 23, 2018 this sequence version replaced NM_025161.5.
            
            Summary: FAAP100 is a component of the Fanconi anemia (FA; MIM
            277650) core complex and is required for core complex stability and
            FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007
            [PubMed 17396147]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) represents the shorter
            transcript and encodes the functional protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ989324.1, SRR11853563.15153.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327787.13/ ENSP00000333283.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1982              DQ989324.1         33-2014
            1983-2934           AL834374.1         518-1469
            2935-3344           AC137896.5         35172-35581         c
            3345-3597           DA103390.1         39-291              c
FEATURES             Location/Qualifiers
     source          1..3597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3597
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /note="FA core complex associated protein 100"
                     /db_xref="GeneID:80233"
                     /db_xref="HGNC:HGNC:26171"
                     /db_xref="MIM:611301"
     exon            1..188
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..2669
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /note="isoform b is encoded by transcript variant 2;
                     Fanconi anemia associated protein 100 kDa subunit; Fanconi
                     anemia-associated protein, 100kDa; fanconi
                     anemia-associated protein of 100 kDa; Fanconi anemia core
                     complex 100 kDa subunit; Fanconi anemia core complex
                     associated protein 100"
                     /codon_start=1
                     /product="Fanconi anemia core complex-associated protein
                     100 isoform b"
                     /protein_id="NP_079437.5"
                     /db_xref="CCDS:CCDS32765.2"
                     /db_xref="GeneID:80233"
                     /db_xref="HGNC:HGNC:26171"
                     /db_xref="MIM:611301"
                     /translation="MAGAAPRVRYLAGFCCPLGGLAAGKPRVLCHEAEVFLSTGSELV
                     YVYDQEGGLLTAAFRFPDQVWHLELLAPRRLLYALCARRGLYCLSLDHPGRSRSTSQD
                     DRDSEDGDQPSPVIPVDPDACILPDAALCAFTLLDSVLVTLVQGPARWKMQLFEQPCP
                     GEDPRPGGQIGEVELSSYTPPAGVPGKPAAPHFLPVLCSVSPSGSRVPHDLLGGSGGF
                     TLEDALFGLLFGADATLLQSPVVLCGLPDGQLCCVILKALVTSRSAPGDPNALVKILH
                     HLEEPVIFIGALKTEPQAAEAAENFLPDEDVHCDCLVAFGHHGRMLAIKASWDESGKL
                     VPELREYCLPGPVLCAACGGGGRVYHSTPSDLCVVDLSRGSTPLGPEQPEEGPGGLPP
                     MLCPASLNICSVVSLSASPRTHEGGTKLLALSAKGRLMTCSLDLDSEMPGPARMTTES
                     AGQKIKELLSGIGNISERVSFLKKAVDQRNKALTSLNEAMNVSCALLSSGTGPRPISC
                     TTSTTWSRLQTQDVLMATCVLENSSSFSLDQGWTLCIQVLTSSCALDLDSACSAITYT
                     IPVDQLGPGARREVTLPLGPGENGGLDLPVTVSCTLFYSLREVVGGALAPSDSEDPFL
                     DECPSDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRAPSPLGPTRDPVATFLET
                     CREPGSQPAGPASLRAEYLPPSVASIKVSAELLRAALKDGHSGVPLCCATLQWLLAEN
                     AAVDVVRARALSSIQGVAPDGANVHLIVREVAMTDLCPAGPIQAVEIQVESSSLADIC
                     RAHHAVVGRMQTMVTEQATQGSSAPDLRVQYLRQIHANHETLLREVQTLRDRLCTEDE
                     ASSCATAQRLLQVYRQLRHPSLILL"
     exon            189..313
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            314..1269
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1426
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..2196
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            2197..2333
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2450
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            2451..2537
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..3597
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3597
                     /gene="FAAP100"
                     /gene_synonym="C17orf70"
                     /note="major polyA site"
ORIGIN      
        1 actctgacgg gcccgcgcgc acgatggccg gcgccgcgcc gcgggtccgc tacctggcgg
       61 gcttctgctg ccctctcggg ggcctggcgg cgggcaagcc ccgcgtgctg tgccatgagg
      121 cagaggtctt cctgtccacc gggagcgagc tcgtctacgt gtacgaccag gagggcgggc
      181 tgctgaccgc ggcgttccgg ttccccgacc aggtgtggca cctggagctg ctggcgccgc
      241 gcaggttgct gtacgcgctg tgcgcccgga ggggcctcta ctgcctgtcg ctggaccacc
      301 cgggcaggag caggtctacg agccaggatg acagggacag cgaggacggt gaccagcctt
      361 cccccgtgat ccctgtggac cccgatgcct gcatccttcc cgatgctgcg ctgtgcgcgt
      421 tcaccttgct ggacagtgtg ctggtcaccc tggtgcaggg ccctgcccga tggaagatgc
      481 agctgtttga gcagccctgt cctggggagg acccccggcc aggaggccag atcggtgagg
      541 tggagctgtc ctcctacacg cccccagccg gggtcccagg aaagcctgca gccccccact
      601 tccttccagt gctgtgctct gtgtcaccat caggctccag ggtcccgcac gacctcctcg
      661 ggggctccgg gggcttcacg ctggaggacg ccctcttcgg gctcctcttt ggagctgatg
      721 ccaccctcct gcagtcacct gtggtcctct gtggtctccc tgatggccag ctctgctgtg
      781 tgatcctgaa ggccctggtc acctccaggt cagcccctgg tgacccaaat gcccttgtca
      841 agatcctcca tcacctggag gagcccgtca tcttcatagg ggccttgaag acagagccac
      901 aggctgcaga agctgcagag aattttctgc ctgacgagga tgtgcactgt gactgcctgg
      961 tggcctttgg tcaccacggc cggatgctgg ccatcaaggc cagctgggat gagtccggga
     1021 agctggtgcc cgagctgcgg gagtactgcc tcccaggccc tgtgctctgc gctgcctgtg
     1081 gcgggggtgg ccgcgtgtac cacagcaccc cttctgacct ctgtgtggtg gatctgtctc
     1141 ggggaagcac cccgctgggc cctgagcagc ccgaagaagg cccgggaggc ctgcccccca
     1201 tgctgtgccc agccagcctg aacatctgca gtgtcgtctc gctgtccgcg tctcccagga
     1261 cgcatgaagg tggcaccaag ctcctggccc tgtccgccaa aggccgcctg atgacctgca
     1321 gcctggacct ggactctgag atgcctggcc cagccaggat gaccacagag agtgcaggtc
     1381 agaaaataaa ggagctgctg tctggaattg gcaacatctc tgagagagtg tcttttctaa
     1441 agaaggcggt tgaccagcgg aacaaggcac tgacaagcct caacgaggcc atgaacgtga
     1501 gctgtgcact gctgtcaagc ggcacgggcc ccagacccat ctcctgcacc accagcacca
     1561 cctggagccg cctgcagaca caggatgtgc tcatggccac ctgcgtgcta gagaacagca
     1621 gcagcttcag cctggaccag gggtggaccc tgtgcatcca ggtgctcacc agctcctgtg
     1681 ctctcgacct ggactcggcc tgctccgcca tcacctacac catccccgtg gaccagctcg
     1741 gccccggtgc tcggcgggag gtgacgctac ccctgggccc tggtgagaac ggcgggctcg
     1801 acctgcccgt gaccgtgtcc tgcacgctgt tctacagtct cagggaggtg gtgggcgggg
     1861 cccttgcccc ctcagactct gaggacccct ttctggatga gtgcccctcc gacgtcctgc
     1921 ccgagcaaga gggtgtttgc ctgcccctga gcaggcacac agtggacatg ctgcagtgtc
     1981 tgcgcttccc tggcctggcc ccgccacaca cacgggcccc ctccccactc ggccccaccc
     2041 gagaccctgt ggccactttt ctggaaactt gtcgggagcc tggcagccag ccagcaggac
     2101 ccgcctccct gcgggccgag tacctgcccc catctgtggc ttccatcaag gtgtcggcgg
     2161 agctgctcag agctgccttg aaggacggcc actcaggcgt gcccctgtgc tgtgccaccc
     2221 tgcagtggct ccttgctgag aatgctgctg tggacgtcgt gagggcccga gcactatctt
     2281 ccatccaggg agtggcccct gatggcgcca acgttcacct catcgtccga gaggtggcca
     2341 tgactgacct gtgcccagca gggcccatcc aggccgtgga gattcaagtg gaaagctcct
     2401 ctctggccga catttgcagg gcgcaccatg ccgttgtcgg gcgcatgcag acgatggtga
     2461 cagagcaggc cacccagggc tccagcgctc ctgatctccg tgtgcagtac ctccgccaga
     2521 tccacgccaa ccacgagaca ctgctgcggg aggtgcagac cctgcgcgac cggctctgca
     2581 cggaggatga ggccagctcc tgtgccaccg cccagaggct gctacaggtg taccggcagc
     2641 tgcgccaccc cagcctcatc ctgctgtgac caggcgggcc tgcccctggg ctctggccac
     2701 gcttccagcc tctgtcacag cccccccagg cctcatgggt tagagggaaa ccgagctggc
     2761 ctggccagag ccgtcaggga aggtaggacc tggccacgta ggagcagaac gctcatgaaa
     2821 gtgcttggag gccgtggagc acaaagcaga ttctgattgg gagcaaccga ggcgggctct
     2881 gaacctggcc ggtccagctt cgcgtcctct gctggtgtct ctccttctct gaccgcggcc
     2941 gcagcccctg cactcgcctt cctcactgct gggcagcctt cccaccaccg cagcagcccc
     3001 tgaggccagg aggcagtgca gggcattctg gacccggagg gccagagaaa caggatttct
     3061 ggggtttgga cttggggtga gtttgtaact gttgctgcca caccaccagg agcaccggct
     3121 gcccctctgg gtggcactac caggtgcccc acggtaccct tgtcacactg ttcacacctg
     3181 cccggctgcc cactctggga ccccgaggta ggagggtgct ccctgagacc aaagcacaaa
     3241 acagcatgca gggagctcct gcaagtgccc gtggtctcgt gccacaccaa ggaagggcca
     3301 gcgggtggcc tgtggccgga atgctcaaca actaggtgcc tccagccggg gcagtaccca
     3361 gcactgtgca ctattttcag ggccactcag ggtggcgctg tggcccgggg gggggccctg
     3421 agccccagcc cccagcctcc tccctcagcc tgggctacgg cccacctcct ggtgctggtg
     3481 ttttcatctg gggagggtgc tcgcgccgct cccgctgcag gcactgtccg cgatgagtgc
     3541 gggtaggagc cgtgaggtgc ttctctgctg tgacaaacga ccctgtctgt ccgtgaa
//
