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2024-04-19 23:54:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001039479 5445 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens apoptosis resistant E3 ubiquitin protein ligase 1
(AREL1), mRNA.
ACCESSION NM_001039479
VERSION NM_001039479.1 GI:87116667
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 5445)
AUTHORS Kim,J.B., Kim,S.Y., Kim,B.M., Lee,H., Kim,I., Yun,J., Jo,Y., Oh,T.,
Jo,Y., Chae,H.D. and Shin,D.Y.
TITLE Identification of a novel anti-apoptotic E3 ubiquitin ligase that
ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC,
HtrA2, and ARTS
JOURNAL J. Biol. Chem. 288 (17), 12014-12021 (2013)
PUBMED 23479728
REFERENCE 2 (bases 1 to 5445)
AUTHORS Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
TITLE The DNA sequence and analysis of human chromosome 14
JOURNAL Nature 421 (6923), 601-607 (2003)
PUBMED 12508121
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BI459956.1, BC032944.2, AB002315.1 and AC007956.5.
##Evidence-Data-START##
Transcript exon combination :: AB002315.1, AK304217.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-186 BI459956.1 10-195
187-525 BC032944.2 191-529
526-3635 AB002315.1 492-3601
3636-5445 AC007956.5 44218-46027 c
FEATURES Location/Qualifiers
source 1..5445
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q24.3"
gene 1..5445
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="apoptosis resistant E3 ubiquitin protein ligase 1"
/db_xref="GeneID:9870"
/db_xref="HGNC:20363"
exon 1..172
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 173..460
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 461..521
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
misc_feature 494..496
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="upstream in-frame stop codon"
CDS 506..2977
/gene="AREL1"
/gene_synonym="KIAA0317"
/codon_start=1
/product="apoptosis-resistant E3 ubiquitin protein ligase
1"
/protein_id="NP_001034568.1"
/db_xref="GI:87116668"
/db_xref="CCDS:CCDS41971.1"
/db_xref="GeneID:9870"
/db_xref="HGNC:20363"
/translation="
MFYVIGGITVSVVAFFFTIKFLFELAARVVSFLQNEDRERRGDRTIYDYVRGNYLDPRSCKVSWDWKDPYEVGHSMAFRVHLFYKNGQPFPAHRPVGLRVHISHVELAVEIPVTQEVLQEPNSNVVKVAFTVRKAGRYEITVKLGGLNVAYSPYYKIFQPGMVVPSKTKIVCHFSTLVLTCGQPHTLQIVPRDEYDNPTNNSMSLRDEHNYTLSIHELGPQEEESTGVSFEKSVTSNRQTFQVFLRLTLHSRGCFHACISYQNQPINNGEFDIIVLSEDEKNIVERNVSTSGVSIYFEAYLYNATNCSSTPWHLPPMHMTSSQRRPSTAVDEEDEDSPSECHTPEKVKKPKKVYCYVSPKQFSVKEFYLKIIPWRLYTFRVCPGTKFSYLGPDPVHKLLTLVVDDGIQPPVELSCKERNILAATFIRSLHKNIGGSETFQDKVNFFQRELRQVHMKRPHSKVTLKVSRHALLESSLKATRNFSISDWSKNFEVVFQDEEALDWGGPRREWFELICKALFDTTNQLFTRFSDNNQALVHPNPNRPAHLRLKMYEFAGRLVGKCLYESSLGGAYKQLVRARFTRSFLAQIIGLRMHYKYFETDDPEFYKSKVCFILNNDMSEMELVFAEEKYNKSGQLDKVVELMTGGAQTPVTNANKIFYLNLLAQYRLASQVKEEVEHFLKGLNELVPENLLAIFDENELELLMCGTGDISVSDFKAHAVVVGGSWHFREKVMRWFWTVVSSLTQEELARLLQFTTGSSQLPPGGFAALCPSFQIIAAPTHSTLPTAHTCFNQLCLPTYDSYEEVHRMLQLAISEGCEGFGML
"
misc_feature 509..571
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15033.3);
transmembrane region"
misc_feature 659..979
/gene="AREL1"
/gene_synonym="KIAA0317"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15033.3);
Region: Filamin"
misc_feature 671..967
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="Filamin/ABP280 repeat; Region: Filamin; pfam00630"
/db_xref="CDD:201358"
misc_feature 1895..2968
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="HECT domain; C-terminal catalytic domain of a
subclass of Ubiquitin-protein ligase (E3). It binds
specific ubiquitin-conjugating enzymes (E2), accepts
ubiquitin from E2, transfers ubiquitin to substrate lysine
side chains, and transfers additional...; Region: HECTc;
cd00078"
/db_xref="CDD:28959"
misc_feature order(1907..1909,1997..1999,2030..2032,2234..2236,
2765..2767,2855..2860,2867..2881,2939..2941,2963..2965)
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="catalytic cleft [active]"
/db_xref="CDD:28959"
misc_feature 1961..2965
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="Domain Homologous to E6-AP Carboxyl Terminus with;
Region: HECTc; smart00119"
/db_xref="CDD:197523"
misc_feature order(2318..2320,2327..2332,2336..2341,2348..2350,
2366..2368,2372..2374,2384..2389,2393..2395,2411..2413,
2429..2431,2480..2482,2492..2494)
/gene="AREL1"
/gene_synonym="KIAA0317"
/note="E2 interaction site; other site"
/db_xref="CDD:28959"
exon 522..748
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 749..986
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 987..1156
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1157..1337
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1338..1585
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1586..1663
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1664..1805
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1806..1927
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 1928..2003
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2004..2113
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2114..2293
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2294..2419
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2420..2549
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2550..2608
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2609..2698
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2699..2874
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
exon 2875..5445
/gene="AREL1"
/gene_synonym="KIAA0317"
/inference="alignment:Splign:1.39.8"
variation 3165
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="a"
/replace="c"
/db_xref="dbSNP:1045430"
variation 4411
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="c"
/replace="g"
/db_xref="dbSNP:3813557"
variation 4583
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045436"
variation 4586
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="g"
/replace="t"
/db_xref="dbSNP:1045437"
variation 4975
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="c"
/replace="t"
/db_xref="dbSNP:9441"
variation 4981
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="g"
/replace="t"
/db_xref="dbSNP:3813559"
variation 5085
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace=""
/replace="gt"
/db_xref="dbSNP:367636822"
STS 5147..5376
/gene="AREL1"
/gene_synonym="KIAA0317"
/standard_name="RH80624"
/db_xref="UniSTS:88121"
variation 5255
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045578"
STS 5266..5402
/gene="AREL1"
/gene_synonym="KIAA0317"
/standard_name="RH91392"
/db_xref="UniSTS:84569"
variation 5322
/gene="AREL1"
/gene_synonym="KIAA0317"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045621"
ORIGIN
gcggaaactccttggggaaagggcaatcccccgagccggttcccaggccgggtggagaccaactctggggtctgttggtgggagagtggggagcccgtcttctgctgagtgctgccgccccttcccaggacagcggaggtggaacttcgtcgcgctgcaacccccggctcgggatcctggggcgtcctttggcagtcgattgcaccctgcactagagagaagtccaggaatgatatattcttgggctgtatttctctaccctggagttcatccagttcatcccagaaacactgacctgattactgtgacaaagtctgatggatagaccctttctgttgaccttgtggcgtttttctttcatgtggaagttggaagacaaggtgaaaggggccaaaagttacctgctttggtgaataggagtgctctacttggttctcagaacatgggccctcgtttaaagctgcagctgtgatcctcggctgtctgttggcattgacgggacctgatgttttacgttattggtggaatcacagtgtctgtggttgcattcttcttcacaattaagttcctctttgagcttgccgcacgtgtagtcagcttcctccagaatgaggaccgcgagcgccgaggggaccggactatttatgactacgtgcggggaaattacctggatccccggtcttgcaaagtctcctgggattggaaggacccctatgaggtgggccacagcatggccttccgagtgcatttattctataagaacgggcagcctttccctgcacatcggcctgtgggactaagagttcacatctctcatgtcgagctagcagtggaaattccagtgacccaggaagtccttcaggagcccaattccaacgtagtaaaagtggccttcactgtgcgcaaggctgggcgttatgaaatcacagtgaagcttggtggattaaatgtggcatatagtccctactacaaaatttttcaacctggaatggtggttccttctaagaccaaaattgtgtgccacttttctactcttgtattgacctgtgggcagccgcacacccttcaaatagtaccccgagatgagtatgataatcccaccaacaattccatgtccttgagagatgagcacaattacaccttgtccattcatgagctcggccctcaagaagaagagagtactggtgtctcatttgagaaatcagtaacatccaacaggcagactttccaggtgttcttgcgactcaccctgcattctcgaggctgcttccatgcttgcatttcataccaaaatcagccaatcaataatggtgaatttgacattattgtcctaagtgaggatgagaagaatatcgtcgaacgcaatgtgtccacttcaggcgtgagcatttactttgaggcttatctttataatgctaccaactgtagcagcactccatggcacctgccacccatgcacatgacctcttcccagcgccggccatccactgctgttgacgaggaagatgaagactcgccctctgagtgccacacccctgagaaggtgaagaaaccgaagaaggtgtactgctatgtgtcaccaaagcaattctcagtgaaggagttctacctgaagatcatcccctggcgcctttacaccttccgagtgtgtccaggaacaaaattttcataccttggtcctgaccctgtccataagctgctcacactggtggtggatgatggcattcaacctcctgtggagctcagctgtaaggagaggaacattctagcagccacttttatccgctccctgcataagaacataggaggctctgagacctttcaggacaaggtgaactttttccagcgagagcttcggcaggtacatatgaaaagaccacattccaaagtcaccctgaaggtcagcagacatgccttgttggaatcgtctctgaaagccactcggaatttctccatctcagattggagcaagaactttgaggttgttttccaggatgaagaagctctggactggggagggcctcgccgggaatggtttgagctaatctgcaaagcactatttgataccaccaatcagctcttcacccggttcagtgacaacaaccaagcattagtgcatcccaaccctaatcgccccgctcatctgcgcctgaaaatgtatgagtttgcgggacggctcgtgggcaagtgtctctatgagtcctctctaggaggagcctacaagcagttggtccgagctcgcttcacccgctctttcctggcccaaatcataggactgcgtatgcattacaagtactttgaaacagatgacccagaattctacaaatctaaagtttgttttatcctcaacaatgacatgagtgagatggagctggtctttgcagaagagaaatataataaatcaggtcaattggataaggttgtagaactcatgacaggtggagctcaaactccagtcaccaatgcgaataaaatcttctatttaaatttgctggcccaatatcggctggccagtcaagtgaaagaggaggtggaacatttcctaaaaggcctgaatgaattggtccctgagaaccttttggctatttttgatgagaatgagcttgagctgctgatgtgtgggactggagacatcagtgtgtctgacttcaaagcccatgcagtagttgttggtggctcatggcatttcagagaaaaggtcatgaggtggttttggactgtggtttccagtctgacccaggaggagttggctcggctacttcagttcacaacaggctcctctcagctaccacctggaggctttgccgccctctgtccctcatttcagattattgccgctccgacccatagcacgctgcctactgcacacacatgttttaaccagctgtgcctccctacatatgactcctatgaagaggtgcacaggatgctgcagctggccatcagcgagggttgcgagggctttggcatgctctgaccactctcctgtcatccagttggctcccatgctctctggagcttctgggcgcaagttacagacatcataaccactgatcctaacacacataaccatcagccagaagatgccgcatgctcccctgtgtctggaggattttgtcacctacaagccttgtctttacctcacctgctccctgcccatatctaccacaggccactttggcatggtatgtaagctgagctcttcattctgtcatgagaagaggaccatgctgctatcatttatttggtcctttgaagatctcagtagctgagggagatggcacacggggctcagccctgttgggaaactggtgtggagacccttaaatccacactgtgctccaaaactccctctgctgatactccttggagacaccctctttggccctcactacttgaccagactggtacttgagtccttctcatgggtggggtgattgcctcttctcatcaggagccaggagagagggggacagataggaggtggcccataggagcagtcccgctgcacaatggtaggcataggccatggcactggactgcctctaaggactgctaaaaagaatatttttttgtggtgtcagaactggaaaaagcactttcccttcgggcatttctggaaatgattattaatccacaaagaagaactctgtaagctttttcttgaattgtagccagtgagaaaagcagatagactgaagaatatgaaggatagctgagctgtagcctccagagtggggcatgcctaggcatatggctggcttggagactactgatgcttttccctgagtttgttattggcactgaagtatggccggcttgggccactgacttccccattatgtagtctgctaaaagctggggatcctttagcattctactgaagaaaattttgtagcaaaagattagaacagtaagaatagtatgccagcaatccctgattctctctctgcttggtgttctctggcagcactaagacaaaggaacagggactaggagtttacgtgcttatcacaggtccttggcgtcaggacactagggatgaacatggaggtgatatgttacacagtaaacacctgccaacccctgtactcccctttgctccatcagttatcaggaaggagaactaaggagggaggaagcttattaggttcactgttgaatgatgattgaagagtacctgctgctgtatcttggaagatgacaacatcctttttcattactgtttgattgaaaataatttcaagattcaaaatctcattgacttcccaaatttgtgtttttaagaaggctttgctgcaagctaccattcccaatggggcagtcaactctgagaatattacaagccatctttattgccaaaaccagcaagtacacagagtcctgaaacaaggcaggactttggcaatgccttggcctcctggaagcatgtctgagccctcctgttcgcagggatcatgaggaacaagccctcctgagctgctacagttcctgcctgacctcagtctttcgcagtcatcatttgtcctttcttggcacatgggtgctgacctcactcatccttggggtccgggatccagcatcagggtctctataccccaggatcctccatgccacatggtcactgctctcctcagggaccaggacaaggtgctgctgcttgcccaaatgttttcccatgggatatgtaccggaaggtttatcaccaccctgggaaacataatgctgccccttgggcccagaaaggggtttccagctgggggcacgtggactggttctgctgtttttggcagtcgcttttctgaattctcccctccggcagccttccagagactgatcctggagattgagttgattgtcttggctagacctgtcattttaagctctagtcatagcactttttcagagcatcttaggcaccattgcaacccaaccagggaagctgcatccctgtggtggtccttaggcaccagtctttgttaaacaaaaccctttggcactattgtggttttctattctctgtctgaactctattcaaaagtatctttgctctcttgggccttttcttttactgttttgttttttttttttctaatcctgctttcatactagccagtgtggggaaaaggtacaatatgtcaaagagatgagagagtgttatttcttgggcaattttctattagtgtttcttattttggccagttcttttatttatgtccttgtgacccaggtacttggggggccagctacccttctggccttttagcgtctttgaaggagaccagacatgagtgaatacctaggagagtgtcagcatgtttctggaaaattggcagagaccaagccctgctgcagattcgtcaggccaggtgaaagggccaggcagttgcagctgatgatgtaaatattttgtacagtagataaataaatgtttaaaagaactaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9870 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IBA
GeneID:9870 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
GeneID:9870 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:9870 -> Biological process: GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] evidence: IBA
GeneID:9870 -> Biological process: GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] evidence: IDA
GeneID:9870 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
GeneID:9870 -> Cellular component: GO:0005634 [nucleus] evidence: IBA
GeneID:9870 -> Cellular component: GO:0005737 [cytoplasm] evidence: IBA
GeneID:9870 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:9870 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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