LOCUS       NM_021922               2576 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FA complementation group E (FANCE), transcript variant
            1, mRNA.
ACCESSION   NM_021922
VERSION     NM_021922.3
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 2576)
  AUTHORS   Suye,S., Yin,H., Zhou,Z., Zheng,C., Ren,Z., Shi,L. and Fu,C.
  TITLE     Histological and transcriptomic analysis of Fance-deficient PGCs
            reveal the possible mechanisms of their depletion
  JOURNAL   Reproduction 166 (1), 65-75 (2023)
   PUBMED   37184052
  REMARK    GeneRIF: Histological and transcriptomic analysis of
            Fance-deficient PGCs reveal the possible mechanisms of their
            depletion.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2576)
  AUTHORS   Takahashi,J., Masuda,T., Kitagawa,A., Tobo,T., Nakano,Y., Abe,T.,
            Ando,Y., Kosai,K., Kobayashi,Y., Matsumoto,Y., Yoshizumi,T.,
            Mori,M. and Mimori,K.
  TITLE     Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene,
            Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma
  JOURNAL   Oncology 100 (2), 101-113 (2022)
   PUBMED   34724663
  REMARK    GeneRIF: Fanconi Anemia Complementation Group E, a DNA
            Repair-Related Gene, Is a Potential Marker of Poor Prognosis in
            Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 2576)
  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 2576)
  AUTHORS   Lin,B., Li,H., Zhang,T., Ye,X., Yang,H. and Shen,Y.
  TITLE     Comprehensive analysis of macrophage-related multigene signature in
            the tumor microenvironment of head and neck squamous cancer
  JOURNAL   Aging (Albany NY) 13 (4), 5718-5747 (2021)
   PUBMED   33592580
  REMARK    GeneRIF: Comprehensive analysis of macrophage-related multigene
            signature in the tumor microenvironment of head and neck squamous
            cancer.
REFERENCE   5  (bases 1 to 2576)
  AUTHORS   Waisfisz,Q., Saar,K., Morgan,N.V., Altay,C., Leegwater,P.A., de
            Winter,J.P., Komatsu,K., Evans,G.R., Wegner,R.D., Reis,A.,
            Joenje,H., Arwert,F., Mathew,C.G., Pronk,J.C. and Digweed,M.
  TITLE     The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
  JOURNAL   Am J Hum Genet 64 (5), 1400-1405 (1999)
   PUBMED   10205272
REFERENCE   6  (bases 1 to 2576)
  AUTHORS   Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G.,
            Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and
            Arwert,F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   7  (bases 1 to 2576)
  AUTHORS   Wegner,R.D., Henrichs,I., Joenje,H. and Schroeder-Kurth,T.
  TITLE     Fanconi anemia complementation group E: clinical and cytogenetic
            data of the first patient
  JOURNAL   Clin Genet 50 (6), 479-482 (1996)
   PUBMED   9147877
REFERENCE   8  (bases 1 to 2576)
  AUTHORS   Joenje,H., Lo ten Foe,J.R., Oostra,A.B., van Berkel,C.G.,
            Rooimans,M.A., Schroeder-Kurth,T., Wegner,R.D., Gille,J.J.,
            Buchwald,M. and Arwert,F.
  TITLE     Classification of Fanconi anemia patients by complementation
            analysis: evidence for a fifth genetic subtype
  JOURNAL   Blood 86 (6), 2156-2160 (1995)
   PUBMED   7662964
REFERENCE   9  (bases 1 to 2576)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (bases 1 to 2576)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022721.1 and AF265210.1.
            
            On Aug 31, 2019 this sequence version replaced NM_021922.2.
            
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group E.
            [provided by RefSeq, Jul 2008].
            
            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 :: AF265210.1, BC046359.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229769.3/ ENSP00000229769.2
            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
            1-23                AL022721.1         43704-43726         c
            24-594              AF265210.1         1-571
            595-1063            AL022721.1         39711-40179         c
            1064-1108           AL022721.1         38464-38508         c
            1109-1177           AL022721.1         38080-38148         c
            1178-1321           AL022721.1         37624-37767         c
            1322-1445           AL022721.1         36610-36733         c
            1446-1524           AL022721.1         36304-36382         c
            1525-1591           AL022721.1         35446-35512         c
            1592-1717           AL022721.1         33150-33275         c
            1718-2540           AL022721.1         28998-29820         c
            2541-2576           AF265210.1         2518-2553
FEATURES             Location/Qualifiers
     source          1..2576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2576
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /note="FA complementation group E"
                     /db_xref="GeneID:2178"
                     /db_xref="HGNC:HGNC:3586"
                     /db_xref="MIM:613976"
     exon            1..456
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1819
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Fanconi anemia group E protein; Fanconi anemia
                     complementation group E"
                     /codon_start=1
                     /product="Fanconi anemia group E protein isoform 1"
                     /protein_id="NP_068741.1"
                     /db_xref="CCDS:CCDS4805.1"
                     /db_xref="GeneID:2178"
                     /db_xref="HGNC:HGNC:3586"
                     /db_xref="MIM:613976"
                     /translation="MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGL
                     GVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLL
                     MAVRPSLPESGLLSVLQIAQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
                     QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPK
                     RLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAE
                     SLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLP
                     QLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCA
                     KYTYPVCSALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEET
                     FLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMTKYQANITETQ
                     RLGLAMALEPNTTFLRKSLKAALKHLGP"
     exon            457..1063
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1108
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1177
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1321
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1445
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..1524
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1591
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1717
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     exon            1718..2576
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2557..2562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /note="hexamer: AATAAA"
     polyA_site      2576
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /note="major polyA site"
ORIGIN      
        1 ccttcccttt ccgacagcgc gggaacggct gcggcttcgg gcggccgggt ttctccggtc
       61 tcccaacgcc gaggagagct tgtaacaggc gctggagctg gcccgccacc gccgcgtcag
      121 ggacggcgct ggagtcctcc gttcccctca gcctctgagc tgaggcccca caccagagta
      181 gggggcggcg cggcacccgt gccccggcat ggcgacaccg gacgcggggc tccctggggc
      241 tgagggcgtg gagccggcgc cctgggcgca gctggaggcc cccgcccgcc tcctgctgca
      301 ggcgctgcag gcggggcctg agggggcgcg gcgcggcctg ggggtgctcc gggcgctggg
      361 cagccgcggc tgggagccct tcgactgggg tcgcttgctc gaggccctgt gccgggagga
      421 gccggtcgtg caggggcctg acggccgtct ggagctgaaa ccactgttgc tgcgattgcc
      481 ccggatatgc cagaggaacc tgatgtccct gctgatggcc gttcggccat cgctgccgga
      541 aagtgggctc ctctctgtgc tgcagattgc ccagcaggac ctagcccctg acccagatgc
      601 ctggctccgt gccctggggg aattgctgcg aagggatttg ggggtgggga cctccatgga
      661 gggagcttct ccactgtctg aaagatgcca gagacagctc caaagtctat gtagggggct
      721 gggcctgggg ggcaggaggt tgaaatcccc ccaggctcca gaccctgaag aagaggagaa
      781 cagggactcc cagcagcctg ggaaacgcag aaaggactca gaggaagagg ctgccagtcc
      841 tgaggggaag agggtcccca aaagattacg gtgttgggaa gaggaagaag atcatgagaa
      901 ggagagaccc gaacataagt cactggaatc cctggcagat ggaggaagtg catctcctat
      961 taaggaccag cctgtcatgg cagttaagac tggcgaggac ggttcgaatc tggatgatgc
     1021 taaaggtctg gctgagagtt tggagttgcc caaagctatc caggaccagc ttcccaggct
     1081 gcagcagctg ctgaagacct tggaggaggg gttagaggga ttggaggatg cccccccagt
     1141 tgagctacag cttcttcacg aatgtagtcc cagccagatg gacttgctgt gtgcccagct
     1201 gcagctccct cagctctcag acctcggtct cctgcggctc tgcacctggc tgctggccct
     1261 ttcacctgat ctcagcctca gcaatgctac tgtgctgacc agaagcctct ttcttggacg
     1321 gatcctctcc ttgacttcct cagcctcccg cctgcttaca actgccctga cctccttctg
     1381 tgccaaatat acataccctg tctgcagcgc cctccttgac cctgtgctcc aggccccagg
     1441 cacaggtcct gctcaaacag agttactgtg ttgccttgtg aagatggagt ccctggagcc
     1501 agatgcacag gttctaatgc tgggacagat cttggagctg ccctggaagg aggaaacttt
     1561 cttggtgttg cagtcactcc tagagcggca ggtggagatg acccctgaga agttcagtgt
     1621 cttaatggag aagctctgta aaaaggggct ggcagccacc acctccatgg cctatgccaa
     1681 gctcatgctg acagtgatga ccaagtatca ggctaacatc actgagaccc agaggctggg
     1741 cctggctatg gccctagaac ctaacaccac cttcctgagg aagtccctga aggccgcctt
     1801 gaaacatttg ggcccctgac catccaccaa gggaccaccc tcttggtgct ccatcaccag
     1861 cttcctgaag ggcatttctt tcttcaccac cttgtcttga gccctagcct gaggataaag
     1921 gctgagcctg gccatcccag attgcaactg cctccctgtt acaggctgca tagggaatat
     1981 tggcttccca gccagcaggg aggctcctgg gctaagggag ctcagctata ttttcttttt
     2041 catttctttt gtttttgaga gaaggtattg ctctgtcatc caggctggag tgcagtgatg
     2101 cgattgatca tggctcactg taacctctgc ctcccaggct cgatcctccc atgtcagcct
     2161 cccaagtagc tgggactaca tgcacatgac actatgccca gctaattttt tattttgtag
     2221 ataatatgct ggtcagggct ggtcttgaac tcctgagctc aagtgatctt cctgccttgg
     2281 cacccaaagt gttgagattt acaggtgtga gccaccacac caggccagag ctatatttcc
     2341 aaaggctgct ggccccaggc acactcctca tcaattctca ggctgcaggg acaaactttc
     2401 cgatagggct cagtaggatc aagccgaccc agagtgggca tgggatgctc caggaggtct
     2461 ggggtaccag tgggctcaga tgaagctctt gtgctcatgt atattatgac cttctgtgtt
     2521 tttgtttctg acttgaataa tttatcaatg gtgttgaata aaagcaagtt caataa
//
