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2024-04-19 18:31:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001134223 8057 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript
variant 2, mRNA.
ACCESSION NM_001134223
VERSION NM_001134223.1 GI:197116354
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 8057)
AUTHORS Li,X., Stevens,P.D., Yang,H., Gulhati,P., Wang,W., Evers,B.M. and
Gao,T.
TITLE The deubiquitination enzyme USP46 functions as a tumor suppressor
by controlling PHLPP-dependent attenuation of Akt signaling in
colon cancer
JOURNAL Oncogene 32 (4), 471-478 (2013)
PUBMED 22391563
REMARK GeneRIF: USP46-mediated stabilization of PHLPP and the subsequent
inhibition of Akt.
REFERENCE 2 (bases 1 to 8057)
AUTHORS Fukuo,Y., Kishi,T., Kushima,I., Yoshimura,R., Okochi,T.,
Kitajima,T., Matsunaga,S., Kawashima,K., Umene-Nakano,W.,
Naitoh,H., Inada,T., Nakamura,J., Ozaki,N. and Iwata,N.
TITLE Possible association between ubiquitin-specific peptidase 46 gene
and major depressive disorders in the Japanese population
JOURNAL J Affect Disord 133 (1-2), 150-157 (2011)
PUBMED 21663972
REMARK GeneRIF: results suggest that the USP46 gene might play a role in
the pathophysiology of major depressive disorder in the Japanese
population.
REFERENCE 3 (bases 1 to 8057)
AUTHORS Zhang,W., Tian,Q.B., Li,Q.K., Wang,J.M., Wang,C.N., Liu,T.,
Liu,D.W. and Wang,M.W.
TITLE Lysine 92 amino acid residue of USP46, a gene associated with
'behavioral despair' in mice, influences the deubiquitinating
enzyme activity
JOURNAL PLoS ONE 6 (10), E26297 (2011)
PUBMED 22043315
REFERENCE 4 (bases 1 to 8057)
AUTHORS Kushima,I., Aleksic,B., Ito,Y., Nakamura,Y., Nakamura,K., Mori,N.,
Kikuchi,M., Inada,T., Kunugi,H., Nanko,S., Kato,T., Yoshikawa,T.,
Ujike,H., Suzuki,M., Iwata,N. and Ozaki,N.
TITLE Association study of ubiquitin-specific peptidase 46 (USP46) with
bipolar disorder and schizophrenia in a Japanese population
JOURNAL J. Hum. Genet. 55 (3), 133-136 (2010)
PUBMED 20111060
REMARK GeneRIF: These data argue against the presence of any strong
genetic susceptibility factors for bipolar disorder or
schizophrenia in the region USP46.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 8057)
AUTHORS Cohn,M.A., Kee,Y., Haas,W., Gygi,S.P. and D'Andrea,A.D.
TITLE UAF1 is a subunit of multiple deubiquitinating enzyme complexes
JOURNAL J. Biol. Chem. 284 (8), 5343-5351 (2009)
PUBMED 19075014
REMARK GeneRIF: two novel multisubunit deubiquitinating enzyme complexes
containing USP12 and USP46, respectively. Both complexes contain
the UAF1 protein as a bona fide subunit. Interestingly, UAF1
REFERENCE 6 (bases 1 to 8057)
AUTHORS Zemunik,T., Boban,M., Lauc,G., Jankovic,S., Rotim,K., Vatavuk,Z.,
Bencic,G., Dogas,Z., Boraska,V., Torlak,V., Susac,J., Zobic,I.,
Rudan,D., Pulanic,D., Modun,D., Mudnic,I., Gunjaca,G., Budimir,D.,
Hayward,C., Vitart,V., Wright,A.F., Campbell,H. and Rudan,I.
TITLE Genome-wide association study of biochemical traits in Korcula
Island, Croatia
JOURNAL Croat. Med. J. 50 (1), 23-33 (2009)
PUBMED 19260141
REMARK GeneRIF: Observational study and genome-wide association study of
gene-disease association. (HuGE Navigator)
REFERENCE 7 (bases 1 to 8057)
AUTHORS Quesada,V., Diaz-Perales,A., Gutierrez-Fernandez,A., Garabaya,C.,
Cal,S. and Lopez-Otin,C.
TITLE Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
proteases
JOURNAL Biochem. Biophys. Res. Commun. 314 (1), 54-62 (2004)
PUBMED 14715245
REFERENCE 8 (bases 1 to 8057)
AUTHORS Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
TITLE Human and mouse proteases: a comparative genomic approach
JOURNAL Nat. Rev. Genet. 4 (7), 544-558 (2003)
PUBMED 12838346
REMARK Review article
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BP371221.1, BC037574.1, AC026448.5 and BU620990.1.
Summary: Modification of cellular proteins by ubiquitin is an
essential regulatory mechanism controlled by the coordinated action
of multiple ubiquitin-conjugating and deubiquitinating enzymes.
USP46 belongs to a large family of cysteine proteases that function
as deubiquitinating enzymes (Quesada et al., 2004 [PubMed
14715245]).[supplied by OMIM, Jun 2009].
##Evidence-Data-START##
Transcript exon combination :: AK302438.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-551 BP371221.1 1-551
552-3968 BC037574.1 425-3841
3969-7748 AC026448.5 31700-35479 c
7749-8057 BU620990.1 1-309 c
FEATURES Location/Qualifiers
source 1..8057
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q12"
gene 1..8057
/gene="USP46"
/note="ubiquitin specific peptidase 46"
/db_xref="GeneID:64854"
/db_xref="HGNC:20075"
/db_xref="MIM:612849"
exon 1..297
/gene="USP46"
/inference="alignment:Splign:1.39.8"
misc_feature 265..267
/gene="USP46"
/note="upstream in-frame stop codon"
CDS 283..1362
/gene="USP46"
/EC_number="3.4.19.12"
/note="isoform 2 is encoded by transcript variant 2;
ubiquitin specific protease 46; ubiquitin
carboxyl-terminal hydrolase 46; ubiquitin thioesterase 46;
deubiquitinating enzyme 46; ubiquitin-specific-processing
protease 46; ubiquitin thiolesterase 46"
/codon_start=1
/product="ubiquitin carboxyl-terminal hydrolase 46 isoform
2"
/protein_id="NP_001127695.1"
/db_xref="GI:197116355"
/db_xref="CCDS:CCDS47054.1"
/db_xref="GeneID:64854"
/db_xref="HGNC:20075"
/db_xref="MIM:612849"
/translation="
MNCFQGTNASALEKDIGPEQFPINEHYFGLVNFGNTCYCNSVLQALYFCRPFRENVLAYKAQQKKKENLLTCLADLFHSIATQKKKVGVIPPKKFISRLRKENDLFDNYMQQDAHEFLNYLLNTIADILQEEKKQEKQNGKLKNGNMNEPAENNKPELTWVHEIFQGTLTNETRCLNCETVSSKDEDFLDLSVDVEQNTSITHCLRDFSNTETLCSEQKYYCETCCSKQEAQKRMRVKKLPMILALHLKRFKYMEQLHRYTKLSYRVVFPLELRLFNTSSDAVNLDRMYDLVAVVVHCGSGPNRGHYITIVKSHGFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRE
"
misc_feature 355..1347
/gene="USP46"
/note="Ubiquitin carboxyl-terminal hydrolase; Region: UCH;
pfam00443"
/db_xref="CDD:201230"
misc_feature 367..1350
/gene="USP46"
/note="A subfamily of Peptidase C19. Peptidase C19
contains ubiquitinyl hydrolases. They are intracellular
peptidases that remove ubiquitin molecules from
polyubiquinated peptides by cleavage of isopeptide bonds.
They hydrolyze bonds involving the carboxyl...; Region:
Peptidase_C19G; cd02663"
/db_xref="CDD:73069"
misc_feature order(376..378,391..393,1198..1200,1246..1248)
/gene="USP46"
/note="active site"
/db_xref="CDD:73069"
exon 298..378
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 379..592
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 593..822
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 823..899
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 900..983
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 984..1181
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 1182..1260
/gene="USP46"
/inference="alignment:Splign:1.39.8"
exon 1261..8042
/gene="USP46"
/inference="alignment:Splign:1.39.8"
variation 3726
/gene="USP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:1063850"
STS 4594..4800
/gene="USP46"
/standard_name="STS-N90897"
/db_xref="UniSTS:71087"
variation 5477
/gene="USP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:3733505"
variation 5548
/gene="USP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:3733506"
STS 6218..6287
/gene="USP46"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
STS 6278..6403
/gene="USP46"
/standard_name="D7S2067E"
/db_xref="UniSTS:151120"
STS 6639..6815
/gene="USP46"
/standard_name="SHGC-8627"
/db_xref="UniSTS:93040"
STS 6684..6902
/gene="USP46"
/standard_name="SHGC-50294"
/db_xref="UniSTS:68299"
variation 7748
/gene="USP46"
/replace="a"
/replace="g"
/db_xref="dbSNP:2270827"
STS 7830..7984
/gene="USP46"
/standard_name="A002A30"
/db_xref="UniSTS:40258"
STS 7830..7984
/gene="USP46"
/standard_name="G19858"
/db_xref="UniSTS:40257"
STS 7845..8020
/gene="USP46"
/standard_name="G11823"
/db_xref="UniSTS:7323"
ORIGIN
attgttatgtcatctaccaggtgtttaagggacagtggagatcatgccatttcagacctggtggaagcaaccactaatataaacacctcccatgtataggaaggctggagtgggaatccttaaccccgccccctgctcaggtcaatcccccacccaccgcccccactgtccctcccagtcttccttcccagaggagaaggctgggtatgaggaaactgctgtcttttcactggatcagacgtaaatattaactggacctctctttagattctttgctcaataatgaattgttttcagggcaccaatgcctctgctctggaaaaagacattggtccagagcagtttccaatcaatgaacactatttcggattggtcaattttggaaacacatgctactgtaactccgtgcttcaggcattgtacttctgccgtccattccgggagaatgtgttggcatacaaggcccagcaaaagaagaaggaaaacttgctgacgtgcctggcggaccttttccacagcattgccacacagaagaagaaggttggcgtcatcccaccaaagaagttcatttcaaggctgagaaaagagaatgatctctttgataactacatgcagcaggatgctcatgaatttttaaattatttgctaaacactattgcggacatccttcaggaggagaagaaacaggaaaaacaaaatggaaaattaaaaaatggcaacatgaacgaacctgcggaaaataataaaccagaactcacctgggtccatgagatttttcagggaacgcttaccaatgaaactcgatgcttgaactgtgaaactgttagtagcaaagatgaagattttcttgacctttctgttgatgtggagcagaatacatccattacccactgtctaagagacttcagcaacacagaaacactgtgtagtgaacaaaaatattattgtgaaacatgctgcagcaaacaagaagcccagaaaaggatgagggtaaaaaagctgcccatgatcttggccctgcacctaaagcggttcaagtacatggagcagctgcacagatacaccaagctgtcttaccgtgtggtcttccctctggaactccggctcttcaacacctccagtgatgcagtgaacctggaccgcatgtatgacttggttgcggtggtcgttcactgtggcagtggtcctaatcgtgggcattatatcactattgtgaaaagtcacggcttctggcttttgtttgatgatgacattgtagagaaaatagatgctcaagctattgaagaattctatggcctgacgtcagatatatcaaaaaattcagaatctggatatattttattctatcagtcaagagagtaactgaaagacctgcgggactgattcacgtggggagaatgttcacagcactgtcacccggcttctccgcaggctttcctcttccccagtggcccactaatggtatcactccgagtctcaatggtctggctgtgttagactctctccttttgtgtttttacatgcagcactactcttggttttatttcagtctgacatagagttaactgcaatcagattgtagtctgatttatatgaataacggttgctaattttaggactgggtgaaagctatgccattcattatgtctggctgtattagaatgacatttcctatgaatgtctacggtctgttttaggtgtttgctaaacttctatggcttccagggtcttcttacaatgcattcctttaacttgtccctggaagcattgctacccattttcagcttctctgcctctcttctgatacaaggacagaagaattgggtagatattcaccttttaggggtgcaagtatagctttaagtttgtgcaagtgaaaatgttgaaaagtgagtaacctcgatattaaaatcatccttgacatgaaacagggtgaagagaagctgtccgtggcggctggtgttggctggcattggcactgggctgtgctgacctagccattacaattccaggggctaagaaggctcagggcagacaaagtcaagaggaggaagtttttgtggacaatgaaaagttattttcgtacctttctaccaaaaccaagtttcaggaaaataactctatgttgtttattttcagtgacacttatgtaaggccctgtgagttgtatttatcctgtatccggcactgctaagcttttcaaggtatctttccaatcctgctgatgtggcagtcaatggctgcagggctggcaaacctccccttagccagtcagcacggcattgttccttatcaggaataacaaaggtactacatctttccagccatcagcacgttgtacaacttaactttttaacatagtccgtctgtttactgaggcactggcgagtcccagggctgatacagaaccttccctagagggaataccagagttagctgggtatagaggtggctcaaaggaagtgtccgtgggcagggggaggaatgaacaaaatggcgctgtttctttggctcagactcctagaatgcttgacaagacagaatttttttggaagaacctcatctcactatagttacttttttcacttttgttatatatgtatttattagagcatttgaatattggtacctttaaaagggtcatttggtgttttgctgttgagctggtttttgagtcatagatcttggcttcctttagaagccacttaacttccatacactataataaactgtgaacatatttttgttacctaatgcatccactgatgaacatgcaaactttgggcataatgtgaactaaaattgaaatggaaaatgttagtggccattttgcaacaatgaagaggatagcactttatctagatgaaaactggatttcttatctttgaaatatcttgaactgtttattgctcagaacttaagtaagcatgccaacatttcgtttgtttatgcttgaagtgaaatgttttacttttcactggagaagacaaaacagggtgatcttcatgttattgttttatacaagtgatggaaatgtaccttgccttgtttagaggcaatttcacatttataaatatttttttttcctccatgaaacttacgcagtaatcactacctggaaggtgagttttgatctctttttaaggagaggcactttccaactgaaggtgattgatgtagggaaatgtttgtactatatagaatccatatatttgactgcaagttacaaagttttaagaacatgatggttggtctctaatatatttggaactgattcataagaaaagttattaaaattatctttgaaacacctcttgaagctaatttattagaaaaaatatttcagttggaaggctgtagaagtaatgtttaaatgctaagtcataagttcaggatatttcttttctatttggttgtgcaaaatgtttttcccagttatttaatcgaagtaattccttttaatagaaagagtcagttaaaattcagcattcatggatagatttttggaacgaaaaagggtaagtataagaaaatattgcaaacacattaaaacagttgtatggtgcaggaaaagaagattggaaaaagaccaaaacacacttctccagcaacactccatcagctttttaaaatttagagctatctgctaattttttccctcttccttctcaataaatgaaacaaacactgggcagctgcaggtttctcccaatcatgtctctttatgtaaagacagtaacatgcaaacacttttagtttacatccctcattcacagtgtaaagcaggaaatggtgtgggagatgtgagaccattctgaggtcagcgatagcccaaaggctctgcagtattccctccaatggccaaggattccgtgtgtcatctgcaggagtgagtaggcctgctgtatttcttgtaactgctgggtgttacaaaataagttacaatgttttacactttaaaaaaaaaacagaaggaacatttgctttattggttacttactagtttagcctctaggttatggcacagcatgctaaaaaatcatgtgtttaaaagtaaatgttggtaaaatgctggcatctggtcctattgtgttgatgcattttcacttctgtggtcataggaaatggactggtctaaagagagtgaggcacaacacaagcagggcattagtttgaataggaagtcaatcatatttggttttatggcctggtgtattttgggtttaagataaaatagggaaaaatgtcagaaatgatccctatgcatttattttcatggatacccttaatttcatgggcatgcctaataatgatctatgttctaactggagcttagggcttattttagatattggagtgtagctttattacagatggattttatctttcaacattgcattttgatcaactttgtatattcacgtgtattaaaatattgtgcactaaatgttttgcccttgtttgctattatatggtcaaggcatttatcagcactattgtaatgaactcatgtaagtggcatgggtcagggaaaattatttcctacttttctgcctaattaaatttctgttttccagtattacattaatttatttttggcttccatttctgtataaccaaaatagttactgtatttgtgtggcattcctattattttgttgctaaaaatattgtagtttttatttaaaataatctgtaccttaattttttaaaatgtaaccaattcaagcactttaagcaataatgtcaatcttgtgaaattttaatcagtttaacaccctgcctctaaaattgtttgcaaaaaataaataaatgaataaaatgggaattctctttctagagaattatatccgggtaatgctacacacatggacttaaaatcctttttataaagtgtgagtcagtggcaggtcttatgtccaagtaattattacaaacaattttgaagcagtggaaatgtacagaacattctgatcattataatatataaaggcagtattactctcaaggttgataaaaatcaatgttctggagataactcatcactttttttgagtgaaaaagatcaacagaatttaattcaggaaatggtatctggagaatagcaaattgagaatatcagtgaaaagaatttagggatagttaactaggcatcacagtgaatttatttttggggactttgcatataaaatccttttaaccagttatgaaatgaaagatccattccccaaataagaaggcagcttccagtatctggtttctaggaaggagtaggactgtgattggtccctggtgccctgacttctgggcctgtttctgagccatgggggaccccccagcttcagaaatactcacgtgggttcacaccactccctgccccagaaggagggcaggcacaggtccatgccatgtggcctcagtgaagcctacagtaactatgggtagggctgcttttccctgtcaatcacccagggcacctgtgggtggacagaagattgtcatcggaatacatgcttgggcccaattatgggaataaaacctcatagaccaagagcagggaatgtgccagtaagtgttgagtctcccagctgctgtccatcttctcggggcagtgcagttgaacctgactgagctggaacagagactgttgggaaggtcacttctgtctgccacgaaggccaaaggcagagaagaccttcttgggactgtgtttttctttcctaggcctcactttgtcctgggatttataggacaggcctgtcactaccaaggtgacacaaattctagagaatgtattttcccatttcttcaaatttcctttcctctctttttattgatacttaaaatacctttactaaaaaaatgaagccttccatttccattcccttatatttacatgaagataaaaatacttactaagtcgttgtatttgtccattctggcagtgctataaagacatacctgagcgtgggtcatttctgaagaaaagaggtttaattggctcatggttttatgggctgtacaggcttctgttctgggggaggcctcaggaaacttacaatcagcagaaggcaaagggaaagcaagcccatcttacatggcaggagcaagaggaagagagcaaagggggaggggttacacacttttctttccttttttttttttaagatggagtctcactgtcacccaggctggagtgcagtgatgagatctcagctcactgcaacctctgcctcccgagttcaagcgattcttctgcctcagcctcccaagtagctgggactacaggcatgtgccactatacccgggtaatttttgtattttcagtagatacaaagttttctcatattggccaagctggtctggaactcctgacttcaggtgcctcagcctcccaaagtgctgggattacaggcaagagccaccttgctcggctggggttacacacttttaaacaaccagatctcgtgagaactcagtcatgaggcagtactagggggatggtgcttaaccacctatgatgcaatcacctcccaccaggccccacctccaacactggggattacaattcaacatgggatttgggtggagacacagagccaaaccgtatcagtcatttttcttttactgaaggaaaattttggttgtggggttagtactaaagatagcccatgtagactttttctgaagataccccaagtggagagatttttaattaggcatttatttggcacctattgcattctaggcattgtgataggagctgggggataaaaaggtgacacagattgggtccctcttatggactcgttttttgtctcagaagacaagtctgggtgagaaagaaatttaaaatttaagttgtggaaataacacgtgtgggggaaactccttgcaattcagcacagtttggtattcagccccagcctcaacatgcagatggcactgttggatgaagccacaccatcttttttcctgggagccccacactcttcccagcctgccttctagctcagggacaacacattttgaaaaacaaagtataaatcgattatgttgcaacaatgaacttcacgttttgcctcttctcatgttaaaagagccagtatcatgaaagcctcaacagtgagctttatgaatcaaatatctgttatttctaaacaatctgtttacattatgaccaaataattagagcctatctagacttaccaaaataagatagggcataagcgatttattggtgcatcagcctttgtttgctttttaaggttcctttatgttttaaagggatttgaacaaaagacatcaggagcttacaaaggaaaaatagcttcattttggttatgagataccagagtcagaaatgacattagattgtatagaaaagacttctaattgtgtgcttacttcccacatgattataataaactatatattaacaaccttgggatcgtactcaggttgtcaattacacggatgcatctttcacttttttctttcccaagagtgagagaaagagtgaggttgtgcttaaggcagtgtggaattctacagaagctcttcttggaaaaggagttcaggcacttgtgttgtagactgcagtctgattctgttcttacttcctctcagcataagggagctttgaaaagaaaactcagacttgtatccgacttgaccagaagcaaaataacttgatcattgaagccactatttctgtgtatttgatcaagtcctcctctggaatccaatgcagccatattcatatttcggtctctcttaatggaccttgctggaaagaacattctgtgctaagaaaatggaaaataaacgtgagaaaactttaagaatgagccttcacacctcctgcagcaggtgatagctctgtacttcagagcttgtctccaggttgagaattacctgttttccactctgaggggattagaaagatactgttttaatgggttataaaacttgtgtgaagaagattggccttctccacctctcctgtgaaataaattgtttgaaaactctttgaagagaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:64854 -> Molecular function: GO:0004221 [ubiquitin thiolesterase activity] evidence: IDA
GeneID:64854 -> Molecular function: GO:0004843 [ubiquitin-specific protease activity] evidence: IDA
GeneID:64854 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:64854 -> Biological process: GO:0001662 [behavioral fear response] evidence: IEA
GeneID:64854 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: IEA
GeneID:64854 -> Biological process: GO:0007610 [behavior] evidence: ISS
GeneID:64854 -> Biological process: GO:0016579 [protein deubiquitination] evidence: IDA
GeneID:64854 -> Biological process: GO:0032228 [regulation of synaptic transmission, GABAergic] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001127695 -> EC 3.4.19.12
by
@meso_cacase at
DBCLS
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