2024-04-27 13:22:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020232 1141 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA. ACCESSION NM_020232 VERSION NM_020232.4 GI:312837060 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 1141) 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 1141) 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 1141) 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 1141) 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 1141) 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 1141) 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 1141) 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 1141) 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 1141) 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 BF668035.1, AK057005.1 and BC013356.2. On Nov 26, 2010 this sequence version replaced gi:39725705. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: removed 1 base from the 5' end that did not align to the reference genome assembly. ##Evidence-Data-START## Transcript exon combination :: BC013356.2, BM554605.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-68 BF668035.1 2-69 69-1122 AK057005.1 1-1054 1123-1141 BC013356.2 1046-1064 FEATURES Location/Qualifiers source 1..1141 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18p11.21" gene 1..1141 /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="HPRD:11638" /db_xref="MIM:609702" exon 1..177 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 22 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="g" /replace="t" /db_xref="dbSNP:185483903" variation 25 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:188908314" variation 36 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:373976110" variation 56 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:193119306" variation 65 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:80236912" variation 69 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:144068611" variation 81 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:3809916" variation 86 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:28494820" variation 94 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="g" /db_xref="dbSNP:375830266" CDS 121..915 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /note="isoform 1 is encoded by transcript variant 1; 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 1" /protein_id="NP_064617.2" /db_xref="GI:22726189" /db_xref="CCDS:CCDS11862.1" /db_xref="GeneID:56984" /db_xref="HGNC:24929" /db_xref="HPRD:11638" /db_xref="MIM:609702" /translation="
MFVPCGESAPDLAGFTLLMPAVSVGNVGQLAMDLIISTLNMSKIGYFYTDCLVPMVGNNPYATTEGNSTELSINAEVYSLPSRKLVALQLRSIFIKYKSKPFCEKLLSWVKSSGCARVIVLSSSHSYQRNDLQLRSTPFRYLLTPSMQKSVQNKIKSLNWEEMEKSRCIPEIDDSEFCIRIPGGGITKTLYDESCSKEIQMAVLLKFVSEGDNIPDALGLVEYLNEWLQILKPLSDDPTVSASRWKIPSSWRLLFGSGLPPALF
" misc_feature 169..798 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /note="PAC2 family; Region: PAC2; pfam09754" /db_xref="CDD:204306" variation 144 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:368143818" variation 154 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:138672454" variation 160 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:3809917" variation 168 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:3809918" exon 178..349 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 214 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:369222144" variation 234 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:144583231" variation 267 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:369557737" variation 283 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:116940091" variation 301 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:201114531" variation 311 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:115693908" variation 316 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:376184865" variation 348 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:371581962" exon 350..408 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 357 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:146335831" variation 365 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:139611150" variation 367 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:144450904" exon 409..527 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 423 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:17851032" variation 465 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="g" /replace="t" /db_xref="dbSNP:74356730" variation 486 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:2302768" variation 492 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:141115445" variation 505 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:201041542" variation 523 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:201518631" variation 524 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:149855681" exon 528..701 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 540 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:372768300" variation 562 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /db_xref="dbSNP:374887107" variation 568 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="t" /db_xref="dbSNP:145851136" variation 569 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:148824650" variation 628 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:146919461" variation 657 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:78701021" variation 659 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:76809309" variation 666 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:200304573" variation 697 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:142058774" exon 702..822 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 726 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:146023149" variation 741 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:9955243" variation 798 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:370201911" variation 802 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="g" /db_xref="dbSNP:199627548" exon 823..1124 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /inference="alignment:Splign:1.39.8" variation 825 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:141244204" variation 836 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /db_xref="dbSNP:150799705" variation 851 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:138065437" variation 852 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="g" /replace="t" /db_xref="dbSNP:368811426" variation 859 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:141990092" variation 904 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="g" /db_xref="dbSNP:372178016" variation 924 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /db_xref="dbSNP:374794817" variation 961 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="g" /db_xref="dbSNP:367766905" variation 974 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="g" /replace="t" /db_xref="dbSNP:11537901" variation 995 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="a" /replace="c" /db_xref="dbSNP:76346542" variation 1020 /gene="PSMG2" /gene_synonym="CLAST3; HCCA3; HsT1707; MDS003; PAC2; TNFSF5IP1" /replace="c" /replace="t" /db_xref="dbSNP:138774345" ORIGIN
agggactcaaaggaccctcccgcgccccgcgaggctccggggtctcgggcttccgccttcttgctgccctcgttcttgccagggccgcggttagtccctgctggccaccccactgcgaccatgttcgttccctgcggggagtcggcccccgaccttgccggcttcaccctcctaatgccagcagtatctgttggaaatgttggccagcttgcaatggatctgattatttctacactgaatatgtctaagattggttacttctataccgattgtcttgtgccaatggttggaaacaatccatatgcgaccacagaaggaaattcaacagaacttagcataaatgctgaagtgtattcattgccttcaagaaagctggtggctctacagttaagatccatttttattaagtataaatcaaagccattctgtgaaaaactgctttcctgggtgaaaagcagtggctgtgccagagtcattgttctttcaagcagtcattcatatcagcgtaatgatctgcagcttcgtagtactcccttccggtacctacttacaccttccatgcaaaaaagtgttcaaaataaaataaagagccttaactgggaagaaatggaaaaaagccggtgcattcctgaaatagatgattccgagttttgtatccgcattccgggaggaggtatcacaaaaacactctatgatgaaagctgttctaaagaaatccaaatggcagttctgctgaaatttgtttcagaaggggacaacatcccagatgcattaggtcttgttgagtatcttaatgagtggcttcagatactcaaaccacttagcgatgaccccacagtatctgcctcacggtggaaaataccaagttcttggagattactctttggcagtggtcttccccctgcacttttctgatctaatttctgttttataccttatacccaaaacacttactaccaacacagctgttaaacattctatacaaaaaaattgtatgatctggtattaggaaattactttcacagtaaatatcaaagaaaaaagattaagggtctctttgccatgcttttcatcatatgcaccaaatgtaaattttgtacaataaaattttatttcctaagtaaaaaaaaaaaaaaaaaaa
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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
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