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2024-03-29 02:28:00, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001161344            3291 bp    mRNA    linear   PRI 09-JUN-2013
DEFINITION  Homo sapiens checkpoint with forkhead and ring finger domains, E3
            ubiquitin protein ligase (CHFR), transcript variant 1, mRNA.
ACCESSION   NM_001161344
VERSION     NM_001161344.1  GI:239048791
KEYWORDS    RefSeq.
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 3291)
  AUTHORS   Bae,S.J., Kwon,Y.E., Kim,M. and Seol,J.H.
  TITLE     CHFR is negatively regulated by SUMOylation-mediated ubiquitylation
  JOURNAL   Biochem. Biophys. Res. Commun. 433 (2), 194-199 (2013)
   PUBMED   23454125
  REMARK    GeneRIF: a new regulatory mechanism for CHFR that sequential
            post-translational modifications of CHFR by SUMO and ubiquitin
            coordinately regulates its stability
REFERENCE   2  (bases 1 to 3291)
  AUTHORS   Cal,R., Garcia-Arguinzonis,M., Revuelta-Lopez,E., Castellano,J.,
            Padro,T., Badimon,L. and Llorente-Cortes,V.
  TITLE     Aggregated low-density lipoprotein induces LRP1 stabilization
            through E3 ubiquitin ligase CHFR downregulation in human vascular
            smooth muscle cells
  JOURNAL   Arterioscler. Thromb. Vasc. Biol. 33 (2), 369-377 (2013)
   PUBMED   23241409
  REMARK    GeneRIF: Aggregated LDL prolongs the half life of LRP1 by
            preventing the receptor ubiquitinylation, at least in part, through
            CHFR targeting.
REFERENCE   3  (bases 1 to 3291)
  AUTHORS   Kwon,Y.E., Bae,S.J., Kim,M. and Seol,J.H.
  TITLE     SUMOylation negatively regulates the stability of CHFR tumor
            suppressor
  JOURNAL   Biochem. Biophys. Res. Commun. 430 (1), 213-217 (2013)
   PUBMED   23131550
  REMARK    GeneRIF: this study underscores the importance of CHFR SUMOylation
            as a new regulatory mechanism of CHFR and highlights the emerging
            role of SUMOylation in modulating protein stability.
REFERENCE   4  (bases 1 to 3291)
  AUTHORS   Li,X., Wang,X., Yang,Y., Xu,C. and Shen,H.
  TITLE     RNA interference targeting CHFR enhances taxol chemosensitivity in
            endometrial cancer cells
  JOURNAL   Oncol. Rep. 28 (1), 248-254 (2012)
   PUBMED   22469813
  REMARK    GeneRIF: suppression of CHFR induced a significant increase of the
            mitotic index and much lower numbers of cells at the G2/M phase in
            both cells treated with taxol, indicating mitotic checkpoint
            impairment
REFERENCE   5  (bases 1 to 3291)
  AUTHORS   Kashima,L., Idogawa,M., Mita,H., Shitashige,M., Yamada,T., Ogi,K.,
            Suzuki,H., Toyota,M., Ariga,H., Sasaki,Y. and Tokino,T.
  TITLE     CHFR protein regulates mitotic checkpoint by targeting PARP-1
            protein for ubiquitination and degradation
  JOURNAL   J. Biol. Chem. 287 (16), 12975-12984 (2012)
   PUBMED   22337872
  REMARK    GeneRIF: The interaction between CHFR and PARP-1 plays an important
            role in cell cycle regulation and cancer therapeutic strategies.
REFERENCE   6  (bases 1 to 3291)
  AUTHORS   Stavridi,E.S., Huyen,Y., Loreto,I.R., Scolnick,D.M.,
            Halazonetis,T.D., Pavletich,N.P. and Jeffrey,P.D.
  TITLE     Crystal structure of the FHA domain of the Chfr mitotic checkpoint
            protein and its complex with tungstate
  JOURNAL   Structure 10 (7), 891-899 (2002)
   PUBMED   12121644
REFERENCE   7  (bases 1 to 3291)
  AUTHORS   Mizuno,K., Osada,H., Konishi,H., Tatematsu,Y., Yatabe,Y.,
            Mitsudomi,T., Fujii,Y. and Takahashi,T.
  TITLE     Aberrant hypermethylation of the CHFR prophase checkpoint gene in
            human lung cancers
  JOURNAL   Oncogene 21 (15), 2328-2333 (2002)
   PUBMED   11948416
REFERENCE   8  (bases 1 to 3291)
  AUTHORS   Chaturvedi,P., Sudakin,V., Bobiak,M.L., Fisher,P.W., Mattern,M.R.,
            Jablonski,S.A., Hurle,M.R., Zhu,Y., Yen,T.J. and Zhou,B.B.
  TITLE     Chfr regulates a mitotic stress pathway through its RING-finger
            domain with ubiquitin ligase activity
  JOURNAL   Cancer Res. 62 (6), 1797-1801 (2002)
   PUBMED   11912157
  REMARK    GeneRIF: Chfr regulates a mitotic stress pathway through its
            RING-finger domain with ubiquitin ligase activity.
REFERENCE   9  (bases 1 to 3291)
  AUTHORS   Kang,D., Chen,J., Wong,J. and Fang,G.
  TITLE     The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and
            inhibits Cdc2 at the G2 to M transition
  JOURNAL   J. Cell Biol. 156 (2), 249-259 (2002)
   PUBMED   11807090
  REMARK    GeneRIF: checkpoint protein Chfr is a ligase that ubiquitinates
            Plk1 and inhibits Cdc2 at the G2 to M transition
REFERENCE   10 (bases 1 to 3291)
  AUTHORS   Scolnick,D.M. and Halazonetis,T.D.
  TITLE     Chfr defines a mitotic stress checkpoint that delays entry into
            metaphase
  JOURNAL   Nature 406 (6794), 430-435 (2000)
   PUBMED   10935642
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP313700.1, AF170724.1, AC127070.10 and BC012072.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AF170724.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BP313700.1         1-10
            11-2236             AF170724.1         17-2242
            2237-2934           AC127070.10        108422-109119
            2935-3291           BC012072.1         2825-3181
FEATURES             Location/Qualifiers
     source          1..3291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..3291
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="checkpoint with forkhead and ring finger domains,
                     E3 ubiquitin protein ligase"
                     /db_xref="GeneID:55743"
                     /db_xref="HGNC:20455"
                     /db_xref="MIM:605209"
     exon            1..72
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            73..217
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    76..78
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="upstream in-frame stop codon"
     CDS             85..2079
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="isoform 1 is encoded by transcript variant 1; RING
                     finger protein 196; E3 ubiquitin-protein ligase CHFR;
                     checkpoint with forkhead and RING finger domains protein"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase CHFR isoform 1"
                     /protein_id="NP_001154816.1"
                     /db_xref="GI:239048792"
                     /db_xref="CCDS:CCDS53849.1"
                     /db_xref="GeneID:55743"
                     /db_xref="HGNC:20455"
                     /db_xref="MIM:605209"
                     /translation="
MERPEEGKQSPPPQPWGRLLRLGAEEGEPHVLLRKREWTIGRRRGCDLSFPSNKLVSGDHCRIVVDEKSGQVTLEDTSTSGTVINKLKVVKKQTCPLQTGDVIYLVYRKNEPEHNVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCGSGGGGISPKGSGPSVASDEVSSFASALPDRKTASFSSLEPQDQEDLEPVKKKMRGDGDLDLNGQLLVAQPRRNAQTVHEDVRAAAGKPDKMEETLTCIICQDLLHDCVSLQPCMHTFCAACYSGWMERSSLCPTCRCPVERICKNHILNNLVEAYLIQHPDKSRSEEDVQSMDARNKITQDMLQPKVRRSFSDEEGSSEDLLELSDVDSESSDISQPYVVCRQCPEYRRQAAQPPHCPAPEGEPGAPQALGDAPSTSVSLTTAVQDYVCPLQGSHALCTCCFQPMPDRRAEREQDPRVAPQQCAVCLQPFCHLYWGCTRTGCYGCLAPFCELNLGDKCLDGVLNNNSYESDILKNYLATRGLTWKNMLTESLVALQRGVFLLSDYRVTGDTVLCYCCGLRSFRELTYQYRQNIPASELPVAVTSRPDCYWGRNCRTQVKAHHAMKFNHICEQTRFKN
"
     misc_feature    130..399
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="Forkhead associated domain (FHA); found in
                     eukaryotic and prokaryotic proteins. Putative nuclear
                     signalling domain. FHA domains may bind phosphothreonine,
                     phosphoserine and sometimes phosphotyrosine. In
                     eukaryotes, many FHA domain-containing proteins...;
                     Region: FHA; cd00060"
                     /db_xref="CDD:28942"
     misc_feature    <175..510
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="FOG: FHA domain [Signal transduction mechanisms];
                     Region: COG1716"
                     /db_xref="CDD:31902"
     misc_feature    order(208..210,247..249,253..258,319..327)
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="phosphopeptide binding site; other site"
                     /db_xref="CDD:28942"
     misc_feature    988..1113
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="Zinc finger, C3HC4 type (RING finger); Region:
                     zf-C3HC4_2; pfam13923"
                     /db_xref="CDD:206094"
     misc_feature    991..1122
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="RING-finger (Really Interesting New Gene) domain, a
                     specialized type of Zn-finger of 40 to 60 residues that
                     binds two atoms of zinc; defined by the 'cross-brace'
                     motif C-X2-C-X(9-39)-C-X(1-3)-
                     H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved
                     in...; Region: RING; cd00162"
                     /db_xref="CDD:29102"
     misc_feature    order(994..996,1003..1005,1042..1044,1048..1050,
                     1057..1059,1066..1068,1099..1101,1108..1110)
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /note="cross-brace motif; other site"
                     /db_xref="CDD:29102"
     exon            218..317
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            318..427
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            428..487
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            488..703
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            704..871
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     variation       727
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34220055"
     variation       784
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35206714"
     exon            872..1031
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     variation       969
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:35011845"
     exon            1032..1186
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1187..1349
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1350..1492
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1493..1612
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1613..1696
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1697..1767
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1768..1855
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1856..1963
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            1964..2036
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     exon            2037..3281
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /inference="alignment:Splign:1.39.8"
     variation       2150
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1045979"
     STS             2369..2551
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /standard_name="RH98685"
                     /db_xref="UniSTS:83815"
     variation       2934
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8021"
     variation       3159
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1046106"
     variation       3255
                     /gene="CHFR"
                     /gene_synonym="RNF116; RNF196"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1046130"
ORIGIN      
agctgagggagccgcaatgtctcttgacagcggcggcggcgcagccggttccgggttcggcgcggggcggggatgtgaatcccgatggagcggcccgaggaaggcaagcagtcgccgccgccgcagccctggggacggctcctgcgtctgggcgcggaggagggcgagccgcacgtcctcctgaggaagcgggagtggaccatcgggcggagacgaggttgcgacctttccttccccagcaataaactggtctctggagatcactgtagaattgtagtggatgaaaaatcaggtcaggtgacactggaagataccagcaccagtggaacagtgattaacaagctgaaggttgttaagaagcagacatgccctttacagactggggatgtcatctacttggtgtacaggaagaatgaaccggaacacaacgtggcatacctctatgaatctttaagtgaaaagcaaggcatgacacaagaatcctttgaagctaacaaggaaaatgtgttccatgggaccaaagatacctcaggtgcaggtgcagggcgaggggccgatccccgggtccctccgtcgtcgcccgccactcaggtgtgctttgaggaaccacagccatcaacatcgacgtcagacctcttccccacagcctcggcctcttccacggagccttctcctgcagggcgagagcgttcctccagttgtgggtctgggggtggtggcatctcccctaaaggaagtggtccctctgtggcaagtgatgaagtctccagctttgcctcagctctcccagacagaaagactgcgtccttttcgtcgttggaaccccaggatcaggaggatttggagcccgtgaagaagaaaatgagaggagatggggaccttgacctgaacgggcagttgttggtcgcacaaccgcgtagaaatgcccaaaccgtccacgaggacgtcagagcagcggctgggaagccagacaagatggaggagacgctgacatgcatcatctgccaggacctgctgcacgactgcgtgagtttgcagccctgcatgcacacgttctgcgcggcttgctactcgggctggatggagcgctcgtccctgtgtcctacctgccgctgtcccgtggagcggatctgtaaaaaccacatcctcaacaacctcgtggaagcatacctcatccagcatccagacaagagtcgcagtgaagaagatgtgcaaagtatggatgccaggaataaaatcactcaagacatgctgcagcccaaagtcaggcggtctttttctgatgaagaagggagttcagaggacctgctggagctgtcagacgttgacagtgagtcctcagacattagccagccatacgtcgtgtgccggcagtgtcctgagtacagaaggcaggcggcgcagcctccccactgcccagcacccgagggcgagccaggagccccacaggccctgggggatgcaccctccacgtccgtcagcctgacgacagcagtccaggattacgtgtgccctctgcaaggaagccacgccctgtgcacctgctgcttccagcccatgcccgaccggagagcggagcgcgagcaggacccgcgtgtcgcccctcagcagtgtgcggtctgcctgcagcctttctgccacctgtactggggctgcacccggaccggctgctacggctgcctggccccgttttgtgagctcaacctgggtgacaagtgtctggacggcgtgctgaacaacaacagctacgagtcagacatcctgaagaattacctggcaaccagaggtttgacatggaaaaacatgttgaccgagagcctcgtggctctccagcggggagtgtttctgctgtctgattacagagtcacgggagacaccgttctgtgttactgctgtggcctgcgcagcttccgtgagctgacctatcagtatcggcagaacattcctgcttccgagttgccagtggccgtaacatcccgtcctgactgctactggggccgtaactgccgcactcaggtgaaagctcaccacgccatgaaattcaatcatatctgtgaacagacaaggttcaaaaactaagcatccagaggccctgagcagctttcagcactggaggtgaagagagcgtgtttttaaaatacagagacaagcacgtcaaggtgttttcacagccccctgagggaagggacgcagggtctccgacaggtgctctggggtgactcttctgtggagctttaccctctgagtgagaccctccccagagccccgggggccgcagcccgccctcctggtgagcgctgggcagggctcgtggtggcatcagcagcagagacgaagcctttctgtaacatgcggccgtcccgccgagaggggcagttttgctcttttgtacattttccgaaactacagttaaagcagaagtctgtttttaggaaaagtttcaagggagaagggcaagtttatcaaaaacattgtttcaggagaagggagcataagtttacagcctacaggacgtacacaatatcctgctgctgggaaaaccacagcattttatctattttttattttaataggtttggtgcttatcttctaataagatttaaatgtcacaaactgtagcacaaataatataatttataatttacaaattgactaaaattgggtatagtatggtatttgaaagaataagcatatgcttctgtttattaaaaaaagaaaccttccaatgtccaaaactgctaaccctcgacgtggccgccaagttagtcgctccttgctaaccggtgagtgaccgcggccccgagcctggggctggacgcaggtcccaggacatgctgctcccttgtgtgagtgaccgcggccccgagcctggggctggacgcaggtcccaggacgtgctgctcccttgtgtgagtgaccacggccccaagcccagggctggaggcaggtcccaggacgcgccgctccctcatgctgcccgggcccttcctccaagaccctacagagcctgaggggcaccttggcttccgcctgtgctagctttgccatgtcatctggaataatacttgaaattttgatttttggaaaaaaaagttttttatcttttgttgaaatcacctgttatccttgtttgtaaactgataacttttttgcttcttctcaggaatacagttttcaactgttgtcttgctcttgatagaaactgagaagcagcaatctgtatttgtggaggaaagtcctctcttttgcatattctaataaatgagccgcgtttgctcctcaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:55743 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IDA
            GeneID:55743 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
            GeneID:55743 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:55743 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:55743 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: IDA
            GeneID:55743 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: IEA
            GeneID:55743 -> Biological process: GO:0007067 [mitosis] evidence: IEA
            GeneID:55743 -> Biological process: GO:0007093 [mitotic cell cycle checkpoint] evidence: IMP
            GeneID:55743 -> Biological process: GO:0007093 [mitotic cell cycle checkpoint] evidence: TAS
            GeneID:55743 -> Biological process: GO:0019941 [modification-dependent protein catabolic process] evidence: IDA
            GeneID:55743 -> Biological process: GO:0051301 [cell division] evidence: IEA
            GeneID:55743 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:55743 -> Cellular component: GO:0016605 [PML body] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001154816 -> EC 6.3.2.-

by @meso_cacase at DBCLS
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