LOCUS       NM_152266               2313 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens FA core complex associated protein 24 (FAAP24),
            transcript variant 1, mRNA.
ACCESSION   NM_152266
VERSION     NM_152266.5
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 2313)
  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   2  (bases 1 to 2313)
  AUTHORS   Daschkey,S., Bienemann,K., Schuster,V., Kreth,H.W., Linka,R.M.,
            Honscheid,A., Fritz,G., Johannes,C., Fleckenstein,B., Kempkes,B.,
            Gombert,M., Ginzel,S. and Borkhardt,A.
  TITLE     Fatal Lymphoproliferative Disease in Two Siblings Lacking
            Functional FAAP24
  JOURNAL   J Clin Immunol 36 (7), 684-692 (2016)
   PUBMED   27473539
  REMARK    GeneRIF: This is the first report of an FAAP24 loss of function
            mutation found in human patients with EBV-associated
            lymphoproliferation.
REFERENCE   3  (bases 1 to 2313)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (bases 1 to 2313)
  AUTHORS   Yang,H., Zhang,T., Tao,Y., Wang,F., Tong,L. and Ding,J.
  TITLE     Structural insights into the functions of the FANCM-FAAP24 complex
            in DNA repair
  JOURNAL   Nucleic Acids Res 41 (22), 10573-10583 (2013)
   PUBMED   24003026
  REMARK    GeneRIF: Results show that the first HhH motif of FAAP24 is a
            potential binding site for DNA, which plays a critical role in
            targeting FANCM-FAAP24 to chromatin.
REFERENCE   5  (bases 1 to 2313)
  AUTHORS   Wang,Y., Han,X., Wu,F., Leung,J.W., Lowery,M.G., Do,H., Chen,J.,
            Shi,C., Tian,C., Li,L. and Gong,W.
  TITLE     Structure analysis of FAAP24 reveals single-stranded DNA-binding
            activity and domain functions in DNA damage response
  JOURNAL   Cell Res 23 (10), 1215-1228 (2013)
   PUBMED   23999858
  REMARK    GeneRIF: These results demonstrate dual roles of FAAP24 in DNA
            damage response against crosslinking lesions, one through the
            formation of FANCM/FAAP24 heterodimer and the other via its
            ssDNA-binding activity required in optimized checkpoint activation.
REFERENCE   6  (bases 1 to 2313)
  AUTHORS   Yan,Z., Delannoy,M., Ling,C., Daee,D., Osman,F., Muniandy,P.A.,
            Shen,X., Oostra,A.B., Du,H., Steltenpool,J., Lin,T., Schuster,B.,
            Decaillet,C., Stasiak,A., Stasiak,A.Z., Stone,S., Hoatlin,M.E.,
            Schindler,D., Woodcock,C.L., Joenje,H., Sen,R., de Winter,J.P.,
            Li,L., Seidman,M.M., Whitby,M.C., Myung,K., Constantinou,A. and
            Wang,W.
  TITLE     A histone-fold complex and FANCM form a conserved DNA-remodeling
            complex to maintain genome stability
  JOURNAL   Mol Cell 37 (6), 865-878 (2010)
   PUBMED   20347428
REFERENCE   7  (bases 1 to 2313)
  AUTHORS   Collis,S.J., Ciccia,A., Deans,A.J., Horejsi,Z., Martin,J.S.,
            Maslen,S.L., Skehel,J.M., Elledge,S.J., West,S.C. and Boulton,S.J.
  TITLE     FANCM and FAAP24 function in ATR-mediated checkpoint signaling
            independently of the Fanconi anemia core complex
  JOURNAL   Mol Cell 32 (3), 313-324 (2008)
   PUBMED   18995830
  REMARK    GeneRIF: DNA damage recognition and remodeling activities of FANCM
            and FAAP24 cooperate to promote efficient activation of DNA damage
            checkpoints in Fanconi anemia.
REFERENCE   8  (bases 1 to 2313)
  AUTHORS   Kim,J.M., Kee,Y., Gurtan,A. and D'Andrea,A.D.
  TITLE     Cell cycle-dependent chromatin loading of the Fanconi anemia core
            complex by FANCM/FAAP24
  JOURNAL   Blood 111 (10), 5215-5222 (2008)
   PUBMED   18174376
  REMARK    GeneRIF: FANCM is an anchor required for recruitment of the FA core
            complex to chromatin, and the FANCM/FAAP24 interaction is essential
            for this chromatin-loading activity
REFERENCE   9  (bases 1 to 2313)
  AUTHORS   Gari,K., Decaillet,C., Stasiak,A.Z., Stasiak,A. and Constantinou,A.
  TITLE     The Fanconi anemia protein FANCM can promote branch migration of
            Holliday junctions and replication forks
  JOURNAL   Mol Cell 29 (1), 141-148 (2008)
   PUBMED   18206976
  REMARK    GeneRIF: FAAP24 is dispensable for DNA binding and branch migration
            activity of FANCM.
REFERENCE   10 (bases 1 to 2313)
  AUTHORS   Ciccia,A., Ling,C., Coulthard,R., Yan,Z., Xue,Y., Meetei,A.R.,
            Laghmani el,H., Joenje,H., McDonald,N., de Winter,J.P., Wang,W. and
            West,S.C.
  TITLE     Identification of FAAP24, a Fanconi anemia core complex protein
            that interacts with FANCM
  JOURNAL   Mol Cell 25 (3), 331-343 (2007)
   PUBMED   17289582
  REMARK    GeneRIF: FAAP24 targets FANCM to structures that mimic
            intermediates formed during the replication/repair of damaged DNA.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD690094.1, AK128668.1, CN368337.1, BX390218.2, BC020247.1,
            BM679170.1 and AC011449.6.
            
            On May 17, 2019 this sequence version replaced NM_152266.4.
            
            Summary: FAAP24 is a component of the Fanconi anemia (FA) core
            complex (see MIM 227650), which plays a crucial role in DNA damage
            response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM,
            Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK128668.1, SRR5189667.156605.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588258.6/ ENSP00000466121.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 CD690094.1         57-64
            9-534               AK128668.1         1-526
            535-797             CN368337.1         222-484
            798-798             BX390218.2         31-31
            799-853             CN368337.1         486-540
            854-1152            BC020247.1         827-1125
            1153-1579           BM679170.1         15-441              c
            1580-2313           AC011449.6         80863-81596
FEATURES             Location/Qualifiers
     source          1..2313
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..2313
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /note="FA core complex associated protein 24"
                     /db_xref="GeneID:91442"
                     /db_xref="HGNC:HGNC:28467"
                     /db_xref="MIM:610884"
     exon            1..105
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /inference="alignment:Splign:2.1.0"
     exon            106..224
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..766
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Fanconi anemia-associated protein of 24 kDa; Fanconi
                     anemia core complex associated protein 24"
                     /codon_start=1
                     /product="Fanconi anemia core complex-associated protein
                     24 isoform 1"
                     /protein_id="NP_689479.1"
                     /db_xref="CCDS:CCDS12426.1"
                     /db_xref="GeneID:91442"
                     /db_xref="HGNC:HGNC:28467"
                     /db_xref="MIM:610884"
                     /translation="MEKNPPDDTGPVHVPLGHIVANEKWRGSQLAQEMQGKIKLIFED
                     GLTPDFYLSNRCCILYVTEADLVAGNGYRKRLVRVRNSNNLKGIVVVEKTRMSEQYFP
                     ALQKFTVLDLGMVLLPVASQMEASCLVIQLVQEQTKEPSKNPLLGKKRALLLSEPSLL
                     RTVQQIPGVGKVKAPLLLQKFPSIQQLSNASIGELEQVVGQAVAQQIHAFFTQPR"
     exon            225..361
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /inference="alignment:Splign:2.1.0"
     exon            362..514
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /inference="alignment:Splign:2.1.0"
     exon            515..2313
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1561..1566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /note="hexamer: AATAAA"
     polyA_site      1579
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /note="major polyA site"
ORIGIN      
        1 gtgaacccgg aaggtggcgc ggccaccagt aacatgatct ctagactggg acggtggggt
       61 tcctgccggc tgtattcggg ccttggactg gactgagaag ctacggtgga gaccatccat
      121 ggaaaagaac ccccctgatg atacgggccc cgtgcacgtg cctttggggc atattgtggc
      181 caatgagaaa tggcgcgggt cacagctggc gcaggagatg caagggaaaa ttaagctcat
      241 tttcgaggat ggcttgacac cagactttta tctgtcgaac agatgctgca ttctttatgt
      301 caccgaagct gatttggtgg caggaaatgg ctacagaaag aggcttgttc gggttagaaa
      361 ttccaataat cttaaaggaa ttgtagtcgt tgaaaaaacc cggatgagtg aacaatactt
      421 cccagcccta cagaagttta ctgtgctgga ccttggaatg gtgctgcttc cagtggccag
      481 ccagatggaa gcatcctgcc tcgtcatcca gttggttcaa gagcaaacca aagagcccag
      541 taagaaccct cttctcggga agaaacgggc cctgctgctg tctgagcctt cgctccttcg
      601 aaccgtgcag cagatcccag gagttggaaa agttaaagct ccccttctcc tccagaagtt
      661 tccaagcatc cagcaactga gtaatgcttc cattggggaa ctggagcagg tggtcggaca
      721 agcagtggca cagcagatcc atgccttctt cacgcagccc aggtgagggc tggcctcagg
      781 gccacggcat cttctcctga gaccacaaac accaggatct tgttttcagc tttaaaaacc
      841 aagagaatgg gccgggtgca ctggctcacg cctctaatct cagcactttg ggaggccgaa
      901 gacagcggat catctgaggt caggagttca agaccagcct ggccaacatg gagaaacccc
      961 taaaaatagg aacaattagc caggcatggt gacaggtgcc tgtaatccca gctacttggg
     1021 aggccgaggc atgagaatca cttgaacccg ggaggcggag gttgcagtga gctgagatcg
     1081 tgccactgca ctccagcctg ggcaccagag cgagactccg tctcaaagaa aacaacaaaa
     1141 aaaaaaaaaa aagaaaaagg attttctcca gcagcaacca gtgaaagatg aggcgaggct
     1201 tgaatggagc ccgtgggtcg tcctgcctta gcgtctgagt tcagcttgtg aagttagtgg
     1261 gccgcagagg gcactgcctt cattctgcta agacgaaaag ggctggtggg atcttcgcaa
     1321 gagagtcagg gactcacact cagcaaaaag cattagggcc gattttaatg tgcgaccttg
     1381 acctgcatct gtcatggaaa gtgccttcta aaaagcttca gtggtggatg tgaccatctg
     1441 aaggaaacaa atgtacaagg aagcactgtg tatcctaagc cctgggttcc cagagtttca
     1501 cctgctgttc atcaggtctg gccttcatat acccgtactg cgagggctgt ttccaatgta
     1561 aataaataac tgcgcaacag ttccttcctc ctttcctttg ttcctccctc cccccggcct
     1621 ttttttttgg cagatgtaca gtttgtttat aatcactgca tatgtcttct gcacacagaa
     1681 agtatgaagt ctgaagttcc cacttaaagt tgaaaactca acggccgggc atagtggctc
     1741 acacctgtaa tcccagcact ttgggaggcc aaggggggtg aatcacaagg tcaggagatc
     1801 cagaccatcc tggccgacat ggtgaagccc tgtctctact aaaaatacaa aaattagctg
     1861 ggtgtggtgg cacacacctg taatcccaac tactcaggag actgaggcac gagaatcgct
     1921 tgaacccagg aggtggaggt tgcaatgggc cgagattgca ccactgcact ccagcctgga
     1981 tgacagagtg agactccatc tcaaaaaaaa aaaaaaaaaa tttaaagttg aaaactcaac
     2041 atgcatgagg cagaacaggc tgtgtttgta tatgaaaggc ccaacaatgg aaggatacaa
     2101 gaaaatgatg gcagcagctg catctagtga gggaagcagg ggctggggat caaaaggtac
     2161 aaattgccca ttcaaaaaat agacacaggc caggcacagt ggctcacacc tgtagtccca
     2221 gcactttggg aggctgaggt gggaggattg cttgagtcca ggatttcgag atcagcctgg
     2281 gcaacatggc aagaccccat ctctacaaaa aaa
//
