LOCUS       NM_025923               1798 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus Fanconi anemia, complementation group L (Fancl),
            transcript variant 1, mRNA.
ACCESSION   NM_025923 XM_904142
VERSION     NM_025923.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1798)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1798)
  AUTHORS   Cen,C., Chen,J., Lin,L., Chen,M., Dong,F., Shen,Z., Cui,X., Hou,X.
            and Gao,F.
  TITLE     Fancb deficiency causes premature ovarian insufficiency in
            micedagger
  JOURNAL   Biol Reprod 107 (3), 790-799 (2022)
   PUBMED   35596251
REFERENCE   3  (bases 1 to 1798)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   4  (bases 1 to 1798)
  AUTHORS   Jamsai,D., O'Connor,A.E., Deboer,K.D., Clark,B.J., Smith,S.J.,
            Browne,C.M., Bensley,J.G., Merriman,J.A., Yuen,W.S., Koopman,P.,
            Jones,K.T. and O'Bryan,M.K.
  TITLE     Loss of GGN leads to pre-implantation embryonic lethality and
            compromised male meiotic DNA double strand break repair in the
            mouse
  JOURNAL   PLoS One 8 (2), e56955 (2013)
   PUBMED   23451117
REFERENCE   5  (bases 1 to 1798)
  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   6  (bases 1 to 1798)
  AUTHORS   Wylie,C.
  TITLE     Germ cells
  JOURNAL   Cell 96 (2), 165-174 (1999)
   PUBMED   9988212
  REMARK    Review article
REFERENCE   7  (bases 1 to 1798)
  AUTHORS   Duncan,M.K., Lieman,J. and Chada,K.K.
  TITLE     The germ cell deficient locus maps to mouse chromosome 11A2-3
  JOURNAL   Mamm Genome 6 (10), 697-699 (1995)
   PUBMED   8563166
REFERENCE   8  (bases 1 to 1798)
  AUTHORS   Duncan,M., Cummings,L. and Chada,K.
  TITLE     Germ cell deficient (gcd) mouse as a model of premature ovarian
            failure
  JOURNAL   Biol Reprod 49 (2), 221-227 (1993)
   PUBMED   8373945
REFERENCE   9  (bases 1 to 1798)
  AUTHORS   Rattner,J.B., Wang,T., Mack,G., Martin,L. and Fritzler,M.J.
  TITLE     MSA-35: a protein identified by human autoantibodies that
            colocalizes with microtubules
  JOURNAL   Biochem Cell Biol 70 (10-11), 1115-1122 (1992)
   PUBMED   1297335
  REMARK    GeneRIF: Using HeLa cells and lymphoblasts from Fanconi anemia
            patients, the authors characterize PHF9 (FANCL) as a ubiquitin
            ligase and show it is essential for FANCD2 monoubiquitination. The
            authors state that PHF9 is the human homolog of mouse Pog (Fancl).
REFERENCE   10 (bases 1 to 1798)
  AUTHORS   Pellas,T.C., Ramachandran,B., Duncan,M., Pan,S.S., Marone,M. and
            Chada,K.
  TITLE     Germ-cell deficient (gcd), an insertional mutation manifested as
            infertility in transgenic mice
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8787-8791 (1991)
   PUBMED   1924340
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF513619.1 and AI854815.1.
            
            On Mar 29, 2013 this sequence version replaced NM_025923.2.
            
            Summary: This gene encodes the complementation group L subunit of
            the multimeric Fanconi anemia (FA) nuclear complex composed of
            proteins encoded by over ten Fanconi anemia complementation (FANC)
            group genes. The FA complex is necessary for protection against DNA
            damage. This gene product, an E3 ubiquitin ligase, catalyzes and is
            required for the monoubiquitination of the protein encoded by the
            Fanconi anemia, complementation group D2 gene, a critical step in
            the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of
            this E3 ubiquitin ligase gene can lead to infertility in adult
            males and females, and a deletion of this gene can cause embryonic
            lethality in some genetic backgrounds. A pseudogene of this gene
            has been identified on chromosome 1. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (1) represents the longest
            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 :: AF513619.1, BC032876.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-1775              AF513619.1         1-1775
            1776-1798           AI854815.1         1-23                c
FEATURES             Location/Qualifiers
     source          1..1798
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 15.85 cM"
     gene            1..1798
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="Fanconi anemia, complementation group L"
                     /db_xref="GeneID:67030"
                     /db_xref="MGI:MGI:1914280"
     exon            1..227
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1259
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1; PHD
                     finger protein 9; E3 ubiquitin-protein ligase FANCL;
                     proliferation of germ cells protein; fanconi anemia group
                     L protein homolog; germ cell deficient; RING-type E3
                     ubiquitin transferase FANCL"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase FANCL isoform 1"
                     /protein_id="NP_080199.1"
                     /db_xref="CCDS:CCDS24485.1"
                     /db_xref="GeneID:67030"
                     /db_xref="MGI:MGI:1914280"
                     /translation="MDEAEASLLRHFPLLLPQNREKTVYEGFISAQGSDFHLRIVLPK
                     DLQLKKARLLCSLQLKNILNEYHQVVQQRMKHSPDLMSFMMELKMILEVALKNKQELC
                     VQPPSCSFCKDLLTEIGAIGWDKLACVESSFSTIKLKADDASGRKHLITVKLKAKYPV
                     EPPDCVVDFPVPFSVSWTPQSSLVDVYSQFLVALETLKVFWDVMDEIDEKTWVLEPEK
                     PPRSATARRIALGKNVSIAIEVDPRHPTMLPEFCFLGADHVTKPLGMKLSGSIHLWDP
                     ENSLLQNLKDVLEIDFPARSILEESDFSMDCGICYARHLNGAIPDQVCNNPQCGQPFH
                     EICLYEWLRGLSTSRQSFNVFFGDCPYCSKPITLKMSGRKP"
     exon            228..286
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            287..347
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            348..404
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            405..505
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            506..602
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            603..671
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            672..822
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            823..906
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            907..952
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1034
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1151
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1223
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1782
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1312..1317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="hexamer: AACAAA"
     polyA_site      1329
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="major polyA site"
     regulatory      1696..1701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="hexamer: AATATA"
     polyA_site      1717
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
     regulatory      1756..1761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="hexamer: AATAAA"
     polyA_site      1777
                     /gene="Fancl"
                     /gene_synonym="2010322C19Rik; B230118H11Rik; gcd; Phf9;
                     Pog"
                     /note="major polyA site"
ORIGIN      
        1 agcagaccag ttggcccagt tcattgtcca ggtcagggca gcgtacccac cagttagttt
       61 ttcccgccga agcgggtttc cgccccgtcc ctttgcagac tgcgcatgtg cggcggccat
      121 tcctgtgcgc catggacgaa gcagaagcaa gcctgttgcg ccatttcccg ctgctacttc
      181 ctcagaaccg ggagaaaact gtgtatgagg gattcatttc ggctcaggga agtgactttc
      241 acctcagaat agtgctgcct aaggacctgc agctcaagaa ggcaagatta ctgtgtagcc
      301 tgcagctgaa aaatatactt aatgagtacc atcaagtagt ccaacagaga atgaagcact
      361 ctcctgatct aatgagtttt atgatggaat tgaagatgat tttggaagtt gctttaaaga
      421 ataagcaaga gttgtgtgta caaccacctt cttgcagttt ctgcaaagac cttcttactg
      481 agataggagc cattggttgg gataaactcg catgtgtgga gagttccttc agcaccatca
      541 agttaaaagc agatgatgct tctggtagga agcacctaat cactgtcaag ttgaaggcaa
      601 agtatcctgt agagccacca gattgtgttg tggactttcc tgtcccattt tctgtttcct
      661 ggacaccaca gagctccttg gtagatgttt atagtcagtt cttggtggca ttagagacgc
      721 tgaaggtgtt ctgggatgtt atggatgaaa ttgatgagaa gacctgggtg ctggagccag
      781 agaaacctcc ccggagtgca acagcacgca ggattgcatt aggaaagaat gtttccatag
      841 ccatcgaggt ggaccccagg caccctacca tgcttcctga gttttgcttt cttggagctg
      901 accatgtgac aaaacccctg ggaatgaagc tgagtggtag cattcattta tgggatccag
      961 aaaatagtct gttacaaaat ttgaaagatg ttttagaaat tgatttccca gctcgtagta
     1021 tcttggaaga atctgacttt agcatggact gtggaatctg ttatgcccgt cacctgaatg
     1081 gtgccattcc tgatcaagtg tgtaataatc cccagtgtgg acaacctttc catgaaatat
     1141 gtctgtatga gtggctgaga gggttgagca ccagcagaca gagttttaac gtcttctttg
     1201 gtgactgtcc ctattgtagt aagccaatta ccttgaaaat gtctgggaga aaaccttgaa
     1261 tggaacctac ctgtgaagag atggaatgct taaaagttgt ttaaaaataa aaacaaaagc
     1321 aaaaaccaat ttatttgatg acttcagaga aaatacaaag caagaaatac aaatatcagc
     1381 agacagaata tagtgatccc atagtaatac acatctgcct ttgtctcttc actcagagtc
     1441 aactgaaaaa ttgcaggcca aaaccttgga gaactttcca agtctgtgac tcccagatta
     1501 cccgtgggcg tgtgtctgta ccgaggcagg gatcttggct tcctgatggg atctcttcta
     1561 gtgcagtcca gatagggctt gcaatatgaa ccttggaaac tcatatagct gggtgtttgt
     1621 tgaagactct gcatctcact gaaaatatca gaatattcat gtattttcct tgtccttgag
     1681 ttttcctatg aaagaaatat attttgttag atttgaatta tcgaggcatt tattgtgtac
     1741 tcttcaacag tgctaaataa aacaacatac caagcaagtc taaaaaaaaa aaaaaaaa
//
