LOCUS       NP_001157291             526 aa            linear   ROD 21-AUG-2023
DEFINITION  Fanconi anemia group E protein isoform 1 [Mus musculus].
ACCESSION   NP_001157291 XP_001472176 XP_920583 XP_991432
VERSION     NP_001157291.1
DBSOURCE    REFSEQ: accession NM_001163819.1
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  (residues 1 to 526)
  AUTHORS   Zhou Z, Yin H, Suye S, Ren Z, Yan L, Shi L and Fu C.
  TITLE     Fance deficiency inhibits primordial germ cell proliferation
            associated with transcription-replication conflicts accumulate and
            DNA repair defects
  JOURNAL   J Ovarian Res 16 (1), 160 (2023)
   PUBMED   37563658
  REMARK    GeneRIF: Fance deficiency inhibits primordial germ cell
            proliferation associated with transcription-replication conflicts
            accumulate and DNA repair defects.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 526)
  AUTHORS   Zhou Z, Yin H, Suye S, He J and Fu C.
  TITLE     Pan-cancer analysis of the prognostic and immunological role of
            Fanconi anemia complementation group E
  JOURNAL   Front Genet 13, 1024989 (2023)
   PUBMED   36685883
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 526)
  AUTHORS   Yin H, Suye S, Zhou Z, Cai H and Fu C.
  TITLE     The reduction of oocytes and disruption of the meiotic prophase I
            in Fanconi anemia E-deficient mice
  JOURNAL   Reproduction 164 (3), 71-82 (2022)
   PUBMED   35671285
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 526)
  AUTHORS   Fu C, Begum K, Jordan PW, He Y and Overbeek PA.
  TITLE     Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi
            Anemia E Mutant Male Mice
  JOURNAL   PLoS One 11 (8), e0159800 (2016)
   PUBMED   27486799
  REMARK    GeneRIF: Results provide evidence that fance protein plays an
            important, but not absolutely essential, role in the initial
            developmental expansion of the male germ line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 526)
  AUTHORS   Fu C, Begum K and Overbeek PA.
  TITLE     Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation
            in a Mouse Model
  JOURNAL   PLoS One 11 (3), e0144285 (2016)
   PUBMED   26939056
  REMARK    GeneRIF: Primary ovarian insufficiency is induced by Fance mutation
            in a mouse model.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 526)
  AUTHORS   Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter
            J, Joenje H, Gergely F and Patel KJ.
  TITLE     FANCE: the link between Fanconi anaemia complex assembly and
            activity
  JOURNAL   EMBO J 21 (13), 3414-3423 (2002)
   PUBMED   12093742
  REMARK    GeneRIF: The fact that defects in the human ortholog result in
            Fanconi anemia disease suggests that this protein has a critical
            function and is likely evolutionarily conserved.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CT025652.7.
            
            On or before Aug 8, 2009 this sequence version replaced
            XP_920583.2, XP_991432.1, XP_001472176.1.
            
            Summary: This gene encodes the complementation group E subunit of
            the multimeric Fanconi anemia (FA) nuclear complex composed of
            proteins encoded by over ten Fanconi anemia complementation (FANC)
            group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2),
            FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1),
            FANCL, FANCM and FANCN (also called PALB2). The FA complex is
            necessary for protection against DNA damage. This gene product is
            required for the nuclear accumulation of FANCC and provides a
            critical bridge between the FA complex and FANCD2. Defects in the
            related human gene are a cause of Fanconi anemia, a genetically
            heterogeneous recessive disorder characterized by cytogenetic
            instability, hypersensitivity to DNA crosslinking agents, increased
            chromosomal breakage, and defective DNA repair. Translation of this
            protein is initiated at a non-AUG (CUG) start codon, which is
            inferred from the related human gene and the notion that this
            protein is functionally indispensable. Multiple transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Aug 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments. The combination of alternatively
            spliced exons within the coding region and the non-AUG start codon
            (CUG at nt 115) are inferred based on available transcript data,
            and further supported by similar exon-intron structure of the
            orthologous human gene (GeneID:2178) that encodes a functionally
            important protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7345562.2019519.1,
                                           SRR7652917.525843.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            non-AUG initiation codon :: PMID: 9147877, 12093742
            RefSeq Select criteria   :: based on conservation, expression,
                                        longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 14.65 cM"
     Protein         1..526
                     /product="Fanconi anemia group E protein isoform 1"
                     /calculated_mol_wt=56811
     Region          266..524
                     /region_name="FANCE_c-term"
                     /note="Fanconi anemia complementation group E protein,
                     C-terminal domain; cl12008"
                     /db_xref="CDD:299861"
     Site            order(346,355,361,492)
                     /site_type="active"
                     /note="disease-associated mutation sites [active]"
                     /db_xref="CDD:143633"
     Site            order(438,475..477,481,512..513)
                     /site_type="other"
                     /note="predicted protein-protein interaction site
                     [polypeptide binding]"
                     /db_xref="CDD:143633"
     CDS             1..526
                     /gene="Fance"
                     /gene_synonym="2810451D06Rik"
                     /coded_by="NM_001163819.1:115..1695"
                     /note="isoform 1 is encoded by transcript variant 1;
                     non-AUG (CUG) translation initiation codon"
                     /db_xref="CCDS:CCDS89042.1"
                     /db_xref="GeneID:72775"
                     /db_xref="MGI:MGI:1920025"
ORIGIN      
        1 matpgsdsva sagaapwasl eaparlllqa lqagpegarr glgvlralgr raehfpwdgf
       61 lealghlepe vrgpdgrlel vplllrlpgv cqknllslll allpslpesg lrsvlqlhhq
      121 dvssttdawl halgellrrd vgvgvaegss pltrscqlql rdlcgrlgqg grglklalap
      181 dpeqedrlsq lcgkrtkepe eaaspesers pkrfrgceea vegkepeerp tleslgsppd
      241 aggvlpdtda qapetgpgve gpkgpaesve lpkvvqdqvp rlqlllkafq eglegqekpl
      301 vdlqflhecs psemellcse lqlpqlpdgg llqlcshlmg ltpalslsna svlarslfld
      361 rirslpssas rllrvalvsf cvkytyaicr avlcpllqdp rvgpaqtell cslikdesle
      421 sdmqvqilgq vlelawreet flvlqtller qvemtpevfs vlvqrlckeg paattsmaya
      481 klmltvmtky qtsiteqqsl dlavalepna tflkkalqaa lrhvth
//
