LOCUS       NM_018062               1658 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FA complementation group L (FANCL), transcript variant
            2, mRNA.
ACCESSION   NM_018062
VERSION     NM_018062.4
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 1658)
  AUTHORS   Cousyn,L., Demeret,S., Philippi,A., Bergametti,F., Villa,C.,
            Morbini,P., Riant,F., Soulier,J., Tournier-Lasserve,E. and
            Denier,C.
  TITLE     Autosomal recessive systemic microangiopathy associated with FANCL
            Fanconi anaemia
  JOURNAL   J Neurol Neurosurg Psychiatry 95 (1), 98-100 (2023)
   PUBMED   37451692
  REMARK    GeneRIF: Autosomal recessive systemic microangiopathy associated
            with FANCL Fanconi anaemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1658)
  AUTHORS   Shah,A., George,M., Dhangar,S., Rajendran,A., Mohan,S. and
            Vundinti,B.R.
  TITLE     Severe telomere shortening in Fanconi anemia complementation group
            L
  JOURNAL   Mol Biol Rep 48 (1), 585-593 (2021)
   PUBMED   33394227
  REMARK    GeneRIF: Severe telomere shortening in Fanconi anemia
            complementation group L.
REFERENCE   3  (bases 1 to 1658)
  AUTHORS   Frost,M.G., Mazloumi Aboukheili,A.M., Toth,R. and Walden,H.
  TITLE     Characterization of FANCL variants observed in patient cancer cells
  JOURNAL   Biosci Rep 40 (6) (2020)
   PUBMED   32420600
  REMARK    GeneRIF: Characterization of FANCL variants observed in patient
            cancer cells.
REFERENCE   4  (bases 1 to 1658)
  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 1658)
  AUTHORS   Meetei,A.R., Levitus,M., Xue,Y., Medhurst,A.L., Zwaan,M., Ling,C.,
            Rooimans,M.A., Bier,P., Hoatlin,M., Pals,G., de Winter,J.P.,
            Wang,W. and Joenje,H.
  TITLE     X-linked inheritance of Fanconi anemia complementation group B
  JOURNAL   Nat Genet 36 (11), 1219-1224 (2004)
   PUBMED   15502827
REFERENCE   6  (bases 1 to 1658)
  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
  REMARK    GeneRIF: data suggest that PHF9 has a crucial role in the Fanconi
            anemia pathway as the likely catalytic subunit required for
            monoubiquitination of FANCD2
REFERENCE   7  (bases 1 to 1658)
  AUTHORS   Lu,B. and Bishop,C.E.
  TITLE     Late onset of spermatogenesis and gain of fertility in
            POG-deficient mice indicate that POG is not necessary for the
            proliferation of spermatogonia
  JOURNAL   Biol Reprod 69 (1), 161-168 (2003)
   PUBMED   12606378
  REMARK    GeneRIF: FANCL is necessary for primordial germ cell proliferation
            during the embryonic stage but not necessary for spermatogonia
            proliferation in adulthood. Thus, mouse FancL-/- males are
            infertile at 7 to 12 weeks but gain fertility thereafter.
REFERENCE   8  (bases 1 to 1658)
  AUTHORS   Meetei,A.R., Sechi,S., Wallisch,M., Yang,D., Young,M.K., Joenje,H.,
            Hoatlin,M.E. and Wang,W.
  TITLE     A multiprotein nuclear complex connects Fanconi anemia and Bloom
            syndrome
  JOURNAL   Mol Cell Biol 23 (10), 3417-3426 (2003)
   PUBMED   12724401
REFERENCE   9  (bases 1 to 1658)
  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 1658)
  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 AC007250.2.
            
            On Nov 19, 2019 this sequence version replaced NM_018062.3.
            
            Summary: This gene encodes a ubiquitin ligase that is a member of
            the Fanconi anemia complementation group (FANC). Members of this
            group are related by their assembly into a common nuclear protein
            complex rather than by sequence similarity. This gene encodes the
            protein for complementation group L that mediates
            monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a
            genetically heterogeneous recessive disorder characterized by
            cytogenetic instability, hypersensitivity to DNA crosslinking
            agents, increased chromosomal breakage, and defective DNA repair.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, May 2018].
            
            Transcript Variant: This variant (2) has an alternate splice site
            in the CDS, as compared to variant 1. The resulting isoform (2)
            lacks an internal segment and has identical N- and C-termini, as
            compared to 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 :: BC054517.1, AK001197.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233741.9/ ENSP00000233741.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-108               AC007250.2         93040-93147
            109-167             AC007250.2         102253-102311
            168-228             AC007250.2         104491-104551
            229-285             AC007250.2         107581-107637
            286-386             AC007250.2         112323-112423
            387-483             AC007250.2         130139-130235
            484-552             AC007250.2         135703-135771
            553-703             AC007250.2         168491-168641
            704-787             AC007250.2         170848-170931
            788-833             AC007250.2         171291-171336
            834-915             AC007250.2         171418-171499
            916-1032            AC007250.2         172727-172843
            1033-1104           AC007250.2         174186-174257
            1105-1658           AC007250.2         174565-175118
FEATURES             Location/Qualifiers
     source          1..1658
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     gene            1..1658
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /note="FA complementation group L"
                     /db_xref="GeneID:55120"
                     /db_xref="HGNC:HGNC:20748"
                     /db_xref="MIM:608111"
     exon            1..108
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1140
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /EC_number="2.3.2.27"
                     /note="isoform 2 is encoded by transcript variant 2; PHD
                     finger protein 9; E3 ubiquitin-protein ligase FANCL;
                     fanconi anemia group L protein; fanconi anemia-associated
                     polypeptide of 43 kDa; RING-type E3 ubiquitin transferase
                     FANCL; Fanconi anemia complementation group L"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase FANCL isoform 2"
                     /protein_id="NP_060532.2"
                     /db_xref="CCDS:CCDS1860.1"
                     /db_xref="GeneID:55120"
                     /db_xref="HGNC:HGNC:20748"
                     /db_xref="MIM:608111"
                     /translation="MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPE
                     DLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELY
                     ALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPA
                     ESPDYFVDFPVPFCASWTPQSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEK
                     PPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDP
                     ENSVLQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFH
                     QICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH"
     exon            109..167
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            168..228
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            229..285
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            286..386
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            387..483
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            484..552
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            553..703
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            704..787
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            788..833
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            834..915
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1032
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1104
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1658
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1640..1645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /note="hexamer: AATAAA"
     polyA_site      1658
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /note="major polyA site"
ORIGIN      
        1 ggacttcgag ccatggcggt gacggaagcg agcctgttgc gccagtgccc cctgcttctg
       61 ccccagaacc ggtcgaaaac cgtgtatgag ggattcatct cggctcaggg aagagacttc
      121 caccttagga tagtgttgcc tgaagattta caactgaaga atgcaagatt attatgtagt
      181 tggcagctga gaacaatact tagtggatac catcgaatag tacaacagag aatgcagcac
      241 tctcctgatc taatgagctt tatgatggag ttgaagatgc ttttggaagt tgccttaaag
      301 aatagacaag agctgtatgc actacctcct cctccccagt tctactcaag ccttattgaa
      361 gagataggaa ctcttggttg ggataaactt gtgtatgcgg atacctgctt cagtaccatc
      421 aagttaaaag cagaagatgc ttctggtaga gagcatttaa tcactctcaa gttgaaggca
      481 aagtatcctg cagaatcacc agattatttt gtggattttc ctgttccatt ttgtgcctcc
      541 tggacacctc agagctcctt aataagcatt tatagtcagt ttttggcagc aatagaatca
      601 ctaaaggcat tctgggatgt tatggatgaa atcgatgaga agacctgggt acttgagcca
      661 gaaaaacctc cacggagtgc aacagcacgc agaattgcat taggtaataa tgtttccata
      721 aatatagagg tagaccccag gcatcctact atgcttcctg agtgcttctt tcttggagct
      781 gaccatgtgg taaaacccct gggaattaag ctgagcagga acatacattt gtgggatcca
      841 gaaaatagtg tgttacaaaa tttgaaagat gttttagaaa ttgattttcc agctcgtgct
      901 atcctggaaa aatctgattt tactatggat tgtggaattt gttatgctta tcaacttgac
      961 ggtaccattc ctgatcaagt gtgtgataat tctcagtgtg gacaaccttt ccatcaaata
     1021 tgcttatatg agtggctgag aggactacta actagtagac agagttttaa catcatattt
     1081 ggtgaatgtc catattgtag taagccaatt accttaaaaa tgtctggaag gaaacactga
     1141 aataagaata caacatttcg gtgaagagct ggaaacttaa aaaattatca aaaggaattt
     1201 tggtatcatc ttcagagaaa aaataaagca agaaatacta acatcaaaag gacaggtatg
     1261 atgatgcgat aataataaac atctgcgttt gtctcttcac taagagtaaa ctgggaaatt
     1321 gtaggccaaa gtccagttga actttctaag tctgtgatcc ccgtgctgac tgtggaagtg
     1381 tatttatacc aagatggaga tcttgacttc ttgaatatat ctggactggt aaaatcttga
     1441 tgaggctcat aaaatgagtt tgggaattgt gtatagctga ttttttgtgg gaaactgttt
     1501 acttcattca aaggttcttg agactcttga tatttctgtc ttctccttgt gctttcctat
     1561 ggaaaaaata catatatagt ttagtttgtt agacgtgagt tatccaagta tttattttgt
     1621 gtagtgtgta agaatgctaa ataaaatgtt atacaaga
//
