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2024-04-19 22:53:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001017368 4137 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens ring finger and FYVE-like domain containing E3
ubiquitin protein ligase (RFFL), transcript variant 2, mRNA.
ACCESSION NM_001017368
VERSION NM_001017368.1 GI:62865648
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 4137)
AUTHORS Lin,M.L., Lu,Y.C., Su,H.L., Lin,H.T., Lee,C.C., Kang,S.E.,
Lai,T.C., Chung,J.G. and Chen,S.S.
TITLE Destabilization of CARP mRNAs by aloe-emodin contributes to
caspase-8-mediated p53-independent apoptosis of human carcinoma
cells
JOURNAL J. Cell. Biochem. 112 (4), 1176-1191 (2011)
PUBMED 21308745
REMARK GeneRIF: data indicate AE induces caspase-8-mediated activation of
mitochondrial death pathways by decreasing the stability of CARP
mRNAs in a p53-independent manner.
REFERENCE 2 (bases 1 to 4137)
AUTHORS Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
Honda,M. and Tokunaga,K.
TITLE An approach based on a genome-wide association study reveals
candidate loci for narcolepsy
JOURNAL Hum. Genet. 128 (4), 433-441 (2010)
PUBMED 20677014
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 4137)
AUTHORS Hosgood,H.D. III, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
Smith,M. and Lan,Q.
TITLE Association between genetic variants in VEGF, ERCC3 and
occupational benzene haematotoxicity
JOURNAL Occup Environ Med 66 (12), 848-853 (2009)
PUBMED 19773279
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 4137)
AUTHORS Newton-Cheh,C., Eijgelsheim,M., Rice,K.M., de Bakker,P.I., Yin,X.,
Estrada,K., Bis,J.C., Marciante,K., Rivadeneira,F.,
Noseworthy,P.A., Sotoodehnia,N., Smith,N.L., Rotter,J.I.,
Kors,J.A., Witteman,J.C., Hofman,A., Heckbert,S.R., O'Donnell,C.J.,
Uitterlinden,A.G., Psaty,B.M., Lumley,T., Larson,M.G. and
Stricker,B.H.
TITLE Common variants at ten loci influence QT interval duration in the
QTGEN Study
JOURNAL Nat. Genet. 41 (4), 399-406 (2009)
PUBMED 19305408
REMARK GeneRIF: Meta-analysis and genome-wide association study of
gene-disease association. (HuGE Navigator)
REFERENCE 5 (bases 1 to 4137)
AUTHORS Liao,W., Xiao,Q., Tchikov,V., Fujita,K., Yang,W., Wincovitch,S.,
Garfield,S., Conze,D., El-Deiry,W.S., Schutze,S. and
Srinivasula,S.M.
TITLE CARP-2 is an endosome-associated ubiquitin ligase for RIP and
regulates TNF-induced NF-kappaB activation
JOURNAL Curr. Biol. 18 (9), 641-649 (2008)
PUBMED 18450452
REMARK GeneRIF: acts at the level of endocytic vesicles to limit the
intensity of TNF-induced NF-kappaB activation by the regulated
elimination of a necessary signaling component within the receptor
complex
REFERENCE 6 (bases 1 to 4137)
AUTHORS Yang,W., Rozan,L.M., McDonald,E.R. III, Navaraj,A., Liu,J.J.,
Matthew,E.M., Wang,W., Dicker,D.T. and El-Deiry,W.S.
TITLE CARPs are ubiquitin ligases that promote MDM2-independent p53 and
phospho-p53ser20 degradation
JOURNAL J. Biol. Chem. 282 (5), 3273-3281 (2007)
PUBMED 17121812
REFERENCE 7 (bases 1 to 4137)
AUTHORS Tibbetts,M.D., Shiozaki,E.N., Gu,L., McDonald,E.R. III,
El-Deiry,W.S. and Shi,Y.
TITLE Crystal structure of a FYVE-type zinc finger domain from the
caspase regulator CARP2
JOURNAL Structure 12 (12), 2257-2263 (2004)
PUBMED 15576038
REFERENCE 8 (bases 1 to 4137)
AUTHORS Coumailleau,F., Das,V., Alcover,A., Raposo,G.,
Vandormael-Pournin,S., Le Bras,S., Baldacci,P., Dautry-Varsat,A.,
Babinet,C. and Cohen-Tannoudji,M.
TITLE Over-expression of Rififylin, a new RING finger and FYVE-like
domain-containing protein, inhibits recycling from the endocytic
recycling compartment
JOURNAL Mol. Biol. Cell 15 (10), 4444-4456 (2004)
PUBMED 15229288
REFERENCE 9 (bases 1 to 4137)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 10 (bases 1 to 4137)
AUTHORS McDonald,E.R. III and El-Deiry,W.S.
TITLE Suppression of caspase-8- and -10-associated RING proteins results
in sensitization to death ligands and inhibition of tumor cell
growth
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (16), 6170-6175 (2004)
PUBMED 15069192
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
CR933651.1, CK001659.1 and BC028424.1.
Transcript Variant: This variant (2) represents the shorter
transcript but encodes the supported protein.
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 :: CR933651.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2486 CR933651.1 1-2486
2487-2686 CK001659.1 207-406
2687-4024 CR933651.1 2688-4025
4025-4137 BC028424.1 3948-4060
FEATURES Location/Qualifiers
source 1..4137
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q12"
gene 1..4137
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="ring finger and FYVE-like domain containing E3
ubiquitin protein ligase"
/db_xref="GeneID:117584"
/db_xref="HGNC:24821"
/db_xref="MIM:609735"
exon 1..165
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
misc_feature 114..116
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="upstream in-frame stop codon"
exon 166..353
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
CDS 174..1265
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="caspases-8 and -10-associated RING finger protein
2; FYVE-RING finger protein SAKURA; RING finger protein
189; caspase regulator CARP2; RING finger and FYVE-like
domain-containing protein 1; ring finger and FYVE-like
domain containing 1"
/codon_start=1
/product="E3 ubiquitin-protein ligase rififylin"
/protein_id="NP_001017368.1"
/db_xref="GI:62865649"
/db_xref="CCDS:CCDS11286.1"
/db_xref="GeneID:117584"
/db_xref="HGNC:24821"
/db_xref="MIM:609735"
/translation="
MWATCCNWFCLDGQPEEVPPPQGARMQAYSNPGYSSFPSPTGLEPSCKSCGAHFANTARKQTCLDCKKNFCMTCSSQVGNGPRLCLLCQRFRATAFQREELMKMKVKDLRDYLSLHDISTEMCREKEELVLLVLGQQPVISQEDRTRASTLSPDFPEQQAFLTQPHSSMVPPTSPNLPSSSAQATSVPPAQVQENQQANGHVSQDQEEPVYLESVARVPAEDETQSIDSEDSFVPGRRASLSDLTDLEDIEGLTVRQLKEILARNFVNYKGCCEKWELMERVTRLYKDQKGLQHLVSGAEDQNGGAVPSGLEENLCKICMDSPIDCVLLECGHMVTCTKCGKRMNECPICRQYVIRAVHVFRS
"
misc_feature 273..275
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 306..437
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="FYVE domain; Zinc-binding domain; targets proteins
to membrane lipids via interaction with
phosphatidylinositol-3-phosphate, PI3P; present in Fab1,
YOTB, Vac1, and EEA1; Region: FYVE; cd00065"
/db_xref="CDD:28947"
misc_feature order(312..314,321..323,360..362,369..371,384..386,
393..395,426..428,435..437)
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="Zn binding sites [ion binding]; other site"
/db_xref="CDD:28947"
misc_feature order(348..365,378..380,420..422)
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="phosphatidylinositol 3-phosphate binding site
[chemical binding]; other site"
/db_xref="CDD:28947"
misc_feature 849..851
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WZ73.1); phosphorylation site"
misc_feature 858..860
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WZ73.1); phosphorylation site"
misc_feature 858..860
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[9]
misc_feature 897..899
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1107..1241
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="Zinc finger, C3HC4 type (RING finger); Region:
zf-C3HC4_3; pfam13920"
/db_xref="CDD:206091"
misc_feature order(1119..1121,1128..1130,1164..1166,1170..1172,
1182..1184,1191..1193,1212..1214,1221..1223)
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/note="cross-brace motif; other site"
/db_xref="CDD:29102"
STS 212..337
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="WI-15077"
/db_xref="UniSTS:7903"
exon 354..764
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
variation 613
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/replace="a"
/replace="g"
/db_xref="dbSNP:34747500"
exon 765..848
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
exon 849..1059
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
variation 875
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/replace="c"
/replace="t"
/db_xref="dbSNP:34890676"
exon 1060..1083
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
variation 1081
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/replace="a"
/replace="g"
/db_xref="dbSNP:35426973"
exon 1084..4121
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/inference="alignment:Splign:1.39.8"
STS 1347..1592
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D17S822E"
/db_xref="UniSTS:46839"
STS 1400..1511
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D17S822E"
/db_xref="UniSTS:147373"
STS 1414..1506
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D17S822E"
/db_xref="UniSTS:28243"
STS 2567..2655
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 2637..2739
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D11S3114"
/db_xref="UniSTS:152207"
variation 2841
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/replace="c"
/replace="t"
/db_xref="dbSNP:1859248"
STS 3040..3284
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D17S2135"
/db_xref="UniSTS:19816"
STS 3866..4048
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="RH69286"
/db_xref="UniSTS:50876"
STS 3875..4006
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="A008R31"
/db_xref="UniSTS:25215"
STS 3963..4062
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
/standard_name="D17S1725E"
/db_xref="UniSTS:153959"
polyA_signal 4099..4104
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
polyA_site 4121
/gene="RFFL"
/gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
RNF34L"
ORIGIN
ttaccaaagatacatccccaggcggcaccattcacttcacatgaaagccgctgctcttggttcctgagatgatctcatctgaacatggctccagcgacctcagccacaggaactagagacagcttgctttctgtcgtggcaatgttttgaaactggcaaaatcagattttatcatgtgggcaacctgctgcaactggttctgcctggatggacagcctgaggaggtcccaccaccccagggagccaggatgcaggcctattccaaccctgggtacagctccttcccttccccaacaggcttggaaccaagctgcaagtcctgtggggctcactttgcaaacacggccaggaagcagacctgcttggactgtaagaaaaatttttgcatgacctgttcgagccaagtagggaatgggccccgcctctgccttctctgccaacggtttcgagctacagcctttcagcgagaggagctcatgaagatgaaggtgaaggacttgagggactatctcagcctccatgacatctctaccgaaatgtgccgggagaaagaagagctggtgctcttggtccttggccagcagcctgtaatctcccaggaggacaggactcgtgcctccaccttgtccccagactttcctgagcagcaggccttcctgacccagcctcactccagcatggttccacctacctcacccaacctcccctcttcatctgcacaagccacctctgttcccccagcccaggttcaggagaatcagcaggccaatggccatgtgtctcaggatcaagaggaacccgtctacctggagagcgtggccagagtacctgctgaggatgagacccagtctattgactcagaggacagctttgtcccaggccgaagggcctctctgtctgacctgactgacctggaggacattgaaggcctgacagtgcggcagctgaaagagatcttggctcgcaactttgtcaactacaagggctgctgtgagaagtgggagctgatggagagagtgacccggctatacaaggatcagaaaggactccagcacctggtcagtggtgccgaagaccaaaacgggggagcagtaccatcaggcttggaggagaacctgtgtaagatctgcatggactcacccattgactgtgttcttctggagtgtggccacatggtaacctgtaccaagtgtggcaagcgcatgaatgaatgtcccatctgccggcagtatgtaatccgagctgtgcatgtcttccggtcctgagagcttgcatcggtttcttcagtgccttacagggaaatagcctggggtgtctgggctcagggttggccagcttgcagaggagcaagctagtagaaatattgcagggttcccaaaaccaggtcaagcaagatgccatgtcacccctgagcatgcctgtcttcccaggggtgtacctcttggctggcaaagcccaaggccagtgggaacttgtataaatcacatgggtatgttcttggttcagtgatcttggagtgatgatggtaactgatgaacagagaactttccagaacttgggtcctgtcttcctccctgaacctagacagtttcacccctcctcctgtacccaacccatccccaccccatatgggagatgcttgcccatgtgtttcatcaatcagaagtcctcctccccagcacattcggatttaaatttctggtctctccggctttctgtgctttaactatctttgctaaagtctcttgctacattgcctaaatccatttgtttctttggaccaaaaatgttagtttaccagaccgatagtggtccttaggacagattttagaccagtaaacttatctttggtgagaaatgaaatacaaatgctatagaaaaatttcaaagttgttaaaagccacttcattaaatgctgggattggaagctgttggtctcctgacctgactctgggagccaacaaaacatcaggctcccaaactgctgggaaatttgtttctgtctgcaagggatagtgcgtgcataatccctgctgctgcttctcttgggacctgatttgcaccatccttagtttatgcggaaaggggaagcaatgggtggaggcagtggccttctccttaattttggcttggcttctgatccttttcccaactagaagtcttaagccacttttcgctgaaaatgaaatccctcccttatccatggtagttttaaatttggtttcattgaagaaatagatttaggcaaagagcctgtgctcttctctggccagactgctgttgaagttcctggagagcaaatgttaagacagagcacttaagagctttcaggaggtactgaatgagactggattctgttgtaagccgacagttcaagtctttatttcccaggttggtggggagtgaggagaccctactttcattccctttcctagcccactgatttttgggggcaggtcagggagaaagcattttttttttttttttgagtctcactctgttgcccaggctggagtgcagtggtacagtcttggcttactgcaacctccacctcccaggttcaagctattctcctgccttagcctccagagtagctgggattataggcgcccaccaccacaccaggctaatttttgtatttttagtagagacggggttttaccatgttcaccaggctggtcttgaactcttgaccttatgatccgcccgcctcagcttcccaaagtgctgggattacaggcgtgagccaccacacccagcaggagaaaccattttctaggctctttaggaaggaccatgcaatgagtaggtgatgtatttgagccctcacagtctttacacccctagaggagctggaggacttaagagtttgctgcagaagcgtggccaagcacaaaacacatgatcaggaaagcagagtgttttcccattaccaatggatgaactatgcaaaccctaaacgccttggcagacacctcccaccccttacccctcccatgcagctgaaaaatctgagactagaaccaatcatgactctggatggcagagggaaacctctaaagggacttattacattggtacagacatatttatgctttcttccatcaccaaccactaaacccctttggaggaatgaaataactgcataaactagtcaactgaacactgggccacttacctcaatgttatacaaagtcctggatgatttgattctgaaccacagcctttgcaggagttgggggaatcagatttgctcatgaagacatccctttccacttttgtcatgggcagtaaatactatagtttacaatgcctaccaattagcaaaggatcattcattcagctactcagttcctctgtaaaacaggtctatgtatgtgcaattcagctaagatctagcagtaacttaagggcagaagctggctctctacttacaacctgctttctctgctgaagccttacctcctcttcagtttccctcctagacacaaatcgaaaataatatactgatagctggttagtaacctcagtaagaattaaaactgaggttgtttactcattttgcctttaaatcttttatccccttttggtgaaggtttccctttaggaaaaaaggtgtcaaacaaccctgattttttttttttttgcatcatttttattacaccaaattaaagttgggagttccaagatcccattccagttaatatttaaccaaggtctaaaatttgattttttttaaatctttgaatcctcccttctgcccctcatggatccttggttttaatgatatggaaacatctaattcttagaattattccgtagcttttgctgattactctgagatttcagttaagacttgtttcaaaagacagatagctgactggttcataatacattggaatagttggatccaaactaataagaataagctgtacaggaactagtgctcaatatacattgtataaatttgtggaaatctcttggatgtgaattgttacttcaagtggcttttattaagattttctcagacttacttggaggttaaagcaaacccaaatgtgtattattttgttacagagctctgctttataattttgtaataaagtttcaatacagacaccaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:117584 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:117584 -> Molecular function: GO:0016874 [ligase activity] evidence: IEA
GeneID:117584 -> Biological process: GO:0006886 [intracellular protein transport] evidence: IEA
GeneID:117584 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:117584 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IEA
GeneID:117584 -> Cellular component: GO:0016020 [membrane] evidence: IEA
GeneID:117584 -> Cellular component: GO:0016023 [cytoplasmic membrane-bounded vesicle] evidence: IEA
by
@meso_cacase at
DBCLS
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