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2024-04-16 12:54:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_147163 999 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) assembly chaperone 2
(PSMG2), transcript variant 2, mRNA.
ACCESSION NM_147163
VERSION NM_147163.1 GI:312596923
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 999)
AUTHORS Cooper,J.D., Smyth,D.J., Smiles,A.M., Plagnol,V., Walker,N.M.,
Allen,J.E., Downes,K., Barrett,J.C., Healy,B.C., Mychaleckyj,J.C.,
Warram,J.H. and Todd,J.A.
TITLE Meta-analysis of genome-wide association study data identifies
additional type 1 diabetes risk loci
JOURNAL Nat. Genet. 40 (12), 1399-1401 (2008)
PUBMED 18978792
REFERENCE 2 (bases 1 to 999)
AUTHORS Miyagawa,H., Yamai,M., Sakaguchi,D., Kiyohara,C., Tsukamoto,H.,
Kimoto,Y., Nakamura,T., Lee,J.H., Tsai,C.Y., Chiang,B.L.,
Shimoda,T., Harada,M., Tahira,T., Hayashi,K. and Horiuchi,T.
TITLE Association of polymorphisms in complement component C3 gene with
susceptibility to systemic lupus erythematosus
JOURNAL Rheumatology (Oxford) 47 (2), 158-164 (2008)
PUBMED 18174230
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 999)
AUTHORS Todd,J.A., Walker,N.M., Cooper,J.D., Smyth,D.J., Downes,K.,
Plagnol,V., Bailey,R., Nejentsev,S., Field,S.F., Payne,F.,
Lowe,C.E., Szeszko,J.S., Hafler,J.P., Zeitels,L., Yang,J.H.,
Vella,A., Nutland,S., Stevens,H.E., Schuilenburg,H., Coleman,G.,
Maisuria,M., Meadows,W., Smink,L.J., Healy,B., Burren,O.S.,
Lam,A.A., Ovington,N.R., Allen,J., Adlem,E., Leung,H.T.,
Wallace,C., Howson,J.M., Guja,C., Ionescu-Tirgoviste,C.,
Simmonds,M.J., Heward,J.M., Gough,S.C., Dunger,D.B., Wicker,L.S.
and Clayton,D.G.
CONSRTM Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control
Consortium
TITLE Robust associations of four new chromosome regions from genome-wide
analyses of type 1 diabetes
JOURNAL Nat. Genet. 39 (7), 857-864 (2007)
PUBMED 17554260
REFERENCE 4 (bases 1 to 999)
CONSRTM Wellcome Trust Case Control Consortium
TITLE Genome-wide association study of 14,000 cases of seven common
diseases and 3,000 shared controls
JOURNAL Nature 447 (7145), 661-678 (2007)
PUBMED 17554300
REFERENCE 5 (bases 1 to 999)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 6 (bases 1 to 999)
AUTHORS Hirano,Y., Hayashi,H., Iemura,S., Hendil,K.B., Niwa,S.,
Kishimoto,T., Kasahara,M., Natsume,T., Tanaka,K. and Murata,S.
TITLE Cooperation of multiple chaperones required for the assembly of
mammalian 20S proteasomes
JOURNAL Mol. Cell 24 (6), 977-984 (2006)
PUBMED 17189198
REFERENCE 7 (bases 1 to 999)
AUTHORS Hirano,Y., Hendil,K.B., Yashiroda,H., Iemura,S., Nagane,R.,
Hioki,Y., Natsume,T., Tanaka,K. and Murata,S.
TITLE A heterodimeric complex that promotes the assembly of mammalian 20S
proteasomes
JOURNAL Nature 437 (7063), 1381-1385 (2005)
PUBMED 16251969
REMARK GeneRIF: two chaperones, designated proteasome assembling
chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in
the maturation of mammalian 20S proteasomes
REFERENCE 8 (bases 1 to 999)
AUTHORS Bahar,R., O-Wang,J., Kawamura,K., Seimiya,M., Wang,Y., Hatano,M.,
Okada,S., Tokuhisa,T., Watanabe,T. and Tagawa,M.
TITLE Growth retardation, polyploidy, and multinucleation induced by
Clast3, a novel cell cycle-regulated protein
JOURNAL J. Biol. Chem. 277 (42), 40012-40019 (2002)
PUBMED 12147697
REFERENCE 9 (bases 1 to 999)
AUTHORS Wang,Z.X., Hu,G.F., Wang,H.Y. and Wu,M.C.
TITLE Expression of liver cancer associated gene HCCA3
JOURNAL World J. Gastroenterol. 7 (6), 821-825 (2001)
PUBMED 11854909
REMARK GeneRIF: A novel full-length cDNA was cloned and differentiated,
which was highly expressed in liver cancer tissues. (HCCA3)
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF068295.1, AK057005.1 and BC013356.2.
Transcript Variant: This variant (2) differs in the 5' UTR and
coding sequence compared to variant 1. The resulting isoform (2)
has a shorter and distinct N-terminus compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AF068295.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-227 AF068295.1 1-227
228-980 AK057005.1 302-1054
981-999 BC013356.2 1046-1064
FEATURES Location/Qualifiers
source 1..999
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18p11.21"
gene 1..999
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/note="proteasome (prosome, macropain) assembly chaperone
2"
/db_xref="GeneID:56984"
/db_xref="HGNC:24929"
/db_xref="MIM:609702"
exon 1..35
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
exon 36..207
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
CDS 72..773
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/note="isoform 2 is encoded by transcript variant 2;
hepatocellular carcinoma susceptibility protein; CD40
ligand-activated specific transcript 3; likely ortholog of
mouse CD40 ligand-activated specific transcript 3
(Clast3); tumor necrosis factor superfamily, member
5-induced protein 1; HDCMC29P; HSPC260; x 003 protein;
proteasome assembling chaperone 2; proteasome assembly
chaperone 2; PAC-2; hepatocellular
carcinoma-susceptibility protein 3; tumor necrosis factor
superfamily member 5-induced protein 1"
/codon_start=1
/product="proteasome assembly chaperone 2 isoform 2"
/protein_id="NP_671692.1"
/db_xref="GI:312596924"
/db_xref="GeneID:56984"
/db_xref="HGNC:24929"
/db_xref="MIM:609702"
/translation="
MDLIISTLNMSKIGYFYTDCLVPMVGNNPYATTEGNSTELSINAEVYSLPSRKLVALQLRSIFIKYKSKPFCEKLLSWVKSSGCARVIVLSSSHSYQRNDLQLRSTPFRYLLTPSMQKSVQNKIKSLNWEEMEKSRCIPEIDDSEFCIRIPGGGITKTLYDESCSKEIQMAVLLKFVSEGDNIPDALGLVEYLNEWLQILKPLSDDPTVSASRWKIPSSWRLLFGSGLPPALF
"
misc_feature 75..656
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/note="PAC2 family; Region: PAC2; pfam09754"
/db_xref="CDD:204306"
variation 72
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369222144"
variation 92
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144583231"
variation 125
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369557737"
variation 141
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:116940091"
variation 159
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201114531"
variation 169
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:115693908"
variation 174
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376184865"
variation 206
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371581962"
exon 208..266
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
variation 215
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146335831"
variation 223
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139611150"
variation 225
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144450904"
exon 267..385
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
variation 281
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:17851032"
variation 323
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:74356730"
variation 344
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2302768"
variation 350
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141115445"
variation 363
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201041542"
variation 381
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201518631"
variation 382
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149855681"
exon 386..559
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
variation 398
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372768300"
variation 420
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374887107"
variation 426
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145851136"
variation 427
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148824650"
variation 486
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146919461"
variation 515
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:78701021"
variation 517
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76809309"
variation 524
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200304573"
variation 555
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142058774"
exon 560..680
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
variation 584
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146023149"
variation 599
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:9955243"
variation 656
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370201911"
variation 660
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199627548"
exon 681..982
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/inference="alignment:Splign:1.39.8"
variation 683
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141244204"
variation 694
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:150799705"
variation 709
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138065437"
variation 710
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:368811426"
variation 717
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141990092"
variation 762
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372178016"
variation 782
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374794817"
variation 819
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:367766905"
variation 832
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:11537901"
variation 853
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:76346542"
variation 878
/gene="PSMG2"
/gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2;
TNFSF5IP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138774345"
ORIGIN
ggttgaatacctccctctccactcccatcttcaggccagcagtatctgttggaaatgttggccagcttgcaatggatctgattatttctacactgaatatgtctaagattggttacttctataccgattgtcttgtgccaatggttggaaacaatccatatgcgaccacagaaggaaattcaacagaacttagcataaatgctgaagtgtattcattgccttcaagaaagctggtggctctacagttaagatccatttttattaagtataaatcaaagccattctgtgaaaaactgctttcctgggtgaaaagcagtggctgtgccagagtcattgttctttcaagcagtcattcatatcagcgtaatgatctgcagcttcgtagtactcccttccggtacctacttacaccttccatgcaaaaaagtgttcaaaataaaataaagagccttaactgggaagaaatggaaaaaagccggtgcattcctgaaatagatgattccgagttttgtatccgcattccgggaggaggtatcacaaaaacactctatgatgaaagctgttctaaagaaatccaaatggcagttctgctgaaatttgtttcagaaggggacaacatcccagatgcattaggtcttgttgagtatcttaatgagtggcttcagatactcaaaccacttagcgatgaccccacagtatctgcctcacggtggaaaataccaagttcttggagattactctttggcagtggtcttccccctgcacttttctgatctaatttctgttttataccttatacccaaaacacttactaccaacacagctgttaaacattctatacaaaaaaattgtatgatctggtattaggaaattactttcacagtaaatatcaaagaaaaaagattaagggtctctttgccatgcttttcatcatatgcaccaaatgtaaattttgtacaataaaattttatttcctaagtaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:56984 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:56984 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:56984 -> Biological process: GO:0007094 [mitotic spindle assembly checkpoint] evidence: IEA
GeneID:56984 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IEA
GeneID:56984 -> Biological process: GO:0043248 [proteasome assembly] evidence: IDA
GeneID:56984 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
by
@meso_cacase at
DBCLS
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