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2024-04-26 08:35:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001102668 1072 bp mRNA linear PRI 08-JUN-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4
(PSMA4), transcript variant 3, mRNA.
ACCESSION NM_001102668
VERSION NM_001102668.1 GI:156713443
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 1072)
AUTHORS Wang,J., Bansal,A.T., Martin,M., Germer,S., Benayed,R., Essioux,L.,
Lee,J.S., Begovich,A., Hemmings,A., Kenwright,A., Taylor,K.E.,
Upmanyu,R., Cutler,P., Harari,O., Marchini,J., Criswell,L.A. and
Platt,A.
TITLE Genome-wide association analysis implicates the involvement of
eight loci with response to tocilizumab for the treatment of
rheumatoid arthritis
JOURNAL Pharmacogenomics J. 13 (3), 235-241 (2013)
PUBMED 22491018
REFERENCE 2 (bases 1 to 1072)
AUTHORS Hansen,H.M., Xiao,Y., Rice,T., Bracci,P.M., Wrensch,M.R.,
Sison,J.D., Chang,J.S., Smirnov,I.V., Patoka,J., Seldin,M.F.,
Quesenberry,C.P., Kelsey,K.T. and Wiencke,J.K.
TITLE Fine mapping of chromosome 15q25.1 lung cancer susceptibility in
African-Americans
JOURNAL Hum. Mol. Genet. 19 (18), 3652-3661 (2010)
PUBMED 20587604
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 1072)
AUTHORS Amos,C.I., Gorlov,I.P., Dong,Q., Wu,X., Zhang,H., Lu,E.Y.,
Scheet,P., Greisinger,A.J., Mills,G.B. and Spitz,M.R.
TITLE Nicotinic acetylcholine receptor region on chromosome 15q25 and
lung cancer risk among African Americans: a case-control study
JOURNAL J. Natl. Cancer Inst. 102 (15), 1199-1205 (2010)
PUBMED 20554942
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 1072)
AUTHORS Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
TITLE Association of genetic variants with hemorrhagic stroke in Japanese
individuals
JOURNAL Int. J. Mol. Med. 25 (4), 649-656 (2010)
PUBMED 20198315
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1072)
AUTHORS Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N.,
Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
TITLE Assessment of a polymorphism of SDK1 with hypertension in Japanese
Individuals
JOURNAL Am. J. Hypertens. 23 (1), 70-77 (2010)
PUBMED 19851296
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 1072)
AUTHORS Castano,J.G., Mahillo,E., Arizti,P. and Arribas,J.
TITLE Phosphorylation of C8 and C9 subunits of the multicatalytic
proteinase by casein kinase II and identification of the C8
phosphorylation sites by direct mutagenesis
JOURNAL Biochemistry 35 (12), 3782-3789 (1996)
PUBMED 8619999
REFERENCE 7 (bases 1 to 1072)
AUTHORS Kristensen,P., Johnsen,A.H., Uerkvitz,W., Tanaka,K. and Hendil,K.B.
TITLE Human proteasome subunits from 2-dimensional gels identified by
partial sequencing
JOURNAL Biochem. Biophys. Res. Commun. 205 (3), 1785-1789 (1994)
PUBMED 7811265
REMARK Erratum:[Biochem Biophys Res Commun. 1995 Feb 27;207(3):1059. PMID:
7864893]
REFERENCE 8 (bases 1 to 1072)
AUTHORS Kato,S., Sekine,S., Oh,S.W., Kim,N.S., Umezawa,Y., Abe,N.,
Yokoyama-Kobayashi,M. and Aoki,T.
TITLE Construction of a human full-length cDNA bank
JOURNAL Gene 150 (2), 243-250 (1994)
PUBMED 7821789
REFERENCE 9 (bases 1 to 1072)
AUTHORS Arribas,J., Arizti,P. and Castano,J.G.
TITLE Antibodies against the C2 COOH-terminal region discriminate the
active and latent forms of the multicatalytic proteinase complex
JOURNAL J. Biol. Chem. 269 (17), 12858-12864 (1994)
PUBMED 8175701
REFERENCE 10 (bases 1 to 1072)
AUTHORS Tamura,T., Lee,D.H., Osaka,F., Fujiwara,T., Shin,S., Chung,C.H.,
Tanaka,K. and Ichihara,A.
TITLE Molecular cloning and sequence analysis of cDNAs for five major
subunits of human proteasomes (multi-catalytic proteinase
complexes)
JOURNAL Biochim. Biophys. Acta 1089 (1), 95-102 (1991)
PUBMED 2025653
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BG528289.1, CN337296.1, BC093069.1 and CD365826.1.
Summary: The proteasome is a multicatalytic proteinase complex with
a highly ordered ring-shaped 20S core structure. The core structure
is composed of 4 rings of 28 non-identical subunits; 2 rings are
composed of 7 alpha subunits and 2 rings are composed of 7 beta
subunits. Proteasomes are distributed throughout eukaryotic cells
at a high concentration and cleave peptides in an
ATP/ubiquitin-dependent process in a non-lysosomal pathway. An
essential function of a modified proteasome, the immunoproteasome,
is the processing of class I MHC peptides. This gene encodes a
member of the peptidase T1A family, that is a 20S core alpha
subunit. Three alternatively spliced transcript variants encoding
different isoforms have been found for this gene. [provided by
RefSeq, Jul 2008].
Transcript Variant: This variant (3) lacks an exon in the 5' coding
region and uses a downstream start codon, compared to variant 1.
Isoform 2 has a shorter N-terminus, compared to isoform 1.
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 :: BC093069.1, BQ433495.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025083 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-64 BG528289.1 2-65
65-724 CN337296.1 9-668
725-1036 BC093069.1 657-968
1037-1072 CD365826.1 1-36 c
FEATURES Location/Qualifiers
source 1..1072
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q25.1"
gene 1..1072
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/note="proteasome (prosome, macropain) subunit, alpha
type, 4"
/db_xref="GeneID:5685"
/db_xref="HGNC:9533"
/db_xref="MIM:176846"
exon 1..135
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 3
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:151040409"
variation 9
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="c"
/db_xref="dbSNP:75609110"
variation 46
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="c"
/db_xref="dbSNP:3813571"
variation 55
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:371585497"
variation 73
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="g"
/db_xref="dbSNP:73463040"
variation 80
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="g"
/db_xref="dbSNP:374081082"
variation 86
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:3813570"
variation 101..102
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace=""
/replace="gtg"
/db_xref="dbSNP:375962734"
exon 136..161
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 136
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:375114621"
variation 146
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="c"
/db_xref="dbSNP:200532673"
exon 162..204
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 164
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="g"
/replace="t"
/db_xref="dbSNP:368498566"
misc_feature 173..175
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/note="upstream in-frame stop codon"
variation 176
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:17588"
variation 181
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:11551783"
variation 186
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:11551787"
exon 205..282
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 206
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="g"
/replace="t"
/db_xref="dbSNP:75116593"
CDS 209..781
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/EC_number="3.4.25.1"
/note="isoform 2 is encoded by transcript variant 3;
proteasome component C9; proteasome subunit HC9;
proteasome subunit L; macropain subunit C9; multicatalytic
endopeptidase complex subunit C9; proteasome subunit alpha
type-4"
/codon_start=1
/product="proteasome subunit alpha type-4 isoform 2"
/protein_id="NP_001096138.1"
/db_xref="GI:156713444"
/db_xref="CCDS:CCDS45319.1"
/db_xref="GeneID:5685"
/db_xref="HGNC:9533"
/db_xref="MIM:176846"
/translation="
MACSVAGITSDANVLTNELRLIAQRYLLQYQEPIPCEQLVTALCDIKQAYTQFGGKRPFGVSLLYIGWDKHYGFQLYQSDPSGNYGGWKATCIGNNSAAAVSMLKQDYKEGEMTLKSALALAIKVLNKTMDVSKLSAEKVEIATLTRENGKTVIRVLKQKEVEQLIKKHEEEEAKAEREKKEKEQKEKDK
"
misc_feature <209..643
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/note="The Ntn hydrolases (N-terminal nucleophile) are a
diverse superfamily of of enzymes that are activated
autocatalytically via an N-terminally lcated nucleophilic
amino acid. N-terminal nucleophile (NTN-) hydrolase
superfamily, which contains a...; Region: Ntn_hydrolase;
cl00467"
/db_xref="CDD:241884"
variation 214
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="g"
/replace="t"
/db_xref="dbSNP:183640841"
variation 228
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:11551781"
variation 235
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:11551786"
variation 261
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:11551782"
variation 280
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:200102081"
exon 283..371
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 333
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:147984456"
variation 334
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:11551774"
exon 372..502
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 398
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="g"
/db_xref="dbSNP:373384097"
variation 463
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:377378619"
variation 499
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:370716397"
variation 500
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:147172987"
exon 503..626
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
variation 505
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:140433184"
exon 627..1057
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/inference="alignment:Splign:1.39.8"
STS 678..815
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/standard_name="G62016"
/db_xref="UniSTS:139094"
variation 702
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="g"
/replace="t"
/db_xref="dbSNP:147521961"
variation 715
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:8053"
variation 744
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:113098925"
variation 752
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:1065640"
variation 764
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:201574707"
variation 806
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="g"
/db_xref="dbSNP:370714227"
STS 812..928
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/standard_name="WI-9202"
/db_xref="UniSTS:30996"
variation 814
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:111842716"
STS 834..992
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/standard_name="D15S636E"
/db_xref="UniSTS:58748"
variation 842
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:113789828"
variation 848
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:1052035"
variation 880
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:111362317"
variation 883..884
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace=""
/replace="g"
/db_xref="dbSNP:35919397"
variation 916
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="t"
/db_xref="dbSNP:369831856"
variation 962
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="c"
/replace="g"
/db_xref="dbSNP:143345504"
variation 976
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:1052040"
variation 982
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:3206623"
variation 999
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace=""
/replace="t"
/db_xref="dbSNP:113738721"
variation 1050
/gene="PSMA4"
/gene_synonym="HC9; HsT17706; PSC9"
/replace="a"
/replace="g"
/db_xref="dbSNP:371007026"
ORIGIN
cccgccccaacccagcggttctgcgcatgcgcgggggccatattagcagcggttattcggtgagcggtggtggtttattcttccgtggagttaagggctccgtggacatctcaggtcttcagggtcttccatctggaactatataaagttcagaaaacatgtctcgaagatatgactccaggaccactatattttctccagaagggacatggcttgcagtgtggcaggcataacttctgatgctaatgttctgactaatgaactaaggctcattgctcaaaggtatttattacagtatcaggagccaataccttgtgagcagttggttacagcgctgtgtgatatcaaacaagcttatacacaatttggaggaaaacgtccctttggtgtttcattgctgtacattggctgggataagcactatggctttcagctctatcagagtgaccctagtggaaattacgggggatggaaggccacatgcattggaaataatagcgctgcagctgtgtcaatgttgaaacaagactataaagaaggagaaatgaccttgaagtcagcacttgctttagctatcaaagtactaaataagaccatggatgttagtaaactctctgctgaaaaagtggaaattgcaacactaacaagagagaatggaaagacagtaatcagagttctcaaacaaaaagaagtggagcagttgatcaaaaaacatgaggaagaagaagccaaagctgagcgtgagaagaaagaaaaagaacagaaagaaaaggataaatagaatcagagattttattactcatttggggcaccatttcagtgtaaaagcagtcctactcttccacactaggaaggctttactttttttaactggtgcagtgggaaaataggacattacatactgaattgggtccttgtcatttctgtccaattgaatactttattgtaacgatgatggttacccttcatggacgtcttaatcttccacacacatcccctttttttggaataaaatttggaaaatggaaatgaaggaataaattctctgtagcagtaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5685 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
GeneID:5685 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5685 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
GeneID:5685 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
GeneID:5685 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:5685 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:5685 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
GeneID:5685 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
GeneID:5685 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:5685 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:5685 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:5685 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:5685 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:5685 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5685 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5685 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5685 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS
GeneID:5685 -> Cellular component: GO:0000932 [cytoplasmic mRNA processing body] evidence: ISS
GeneID:5685 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:5685 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5685 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
GeneID:5685 -> Cellular component: GO:0019773 [proteasome core complex, alpha-subunit complex] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001096138 -> EC 3.4.25.1
by
@meso_cacase at
DBCLS
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