2025-05-09 16:44:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005742 2344 bp mRNA linear PRI 14-MAY-2013 DEFINITION Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA. ACCESSION NM_005742 VERSION NM_005742.2 GI:38679894 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 2344) AUTHORS Huergo-Zapico,L., Gonzalez-Rodriguez,A.P., Contesti,J., Gonzalez,E., Lopez-Soto,A., Fernandez-Guizan,A., Acebes-Huerta,A., de Los Toyos,J.R., Lopez-Larrea,C., Groh,V., Spies,T. and Gonzalez,S. TITLE Expression of ERp5 and GRP78 on the membrane of chronic lymphocytic leukemia cells: association with soluble MICA shedding JOURNAL Cancer Immunol. Immunother. 61 (8), 1201-1210 (2012) PUBMED 22215138 REMARK GeneRIF: levels of expression of ERp5 and GRP78 correlated with the level of expression of membrane-bound MICA in chronic lymphocytic leukemia patients. REFERENCE 2 (bases 1 to 2344) AUTHORS Zocchi,M.R., Catellani,S., Canevali,P., Tavella,S., Garuti,A., Villaggio,B., Zunino,A., Gobbi,M., Fraternali-Orcioni,G., Kunkl,A., Ravetti,J.L., Boero,S., Musso,A. and Poggi,A. TITLE High ERp5/ADAM10 expression in lymph node microenvironment and impaired NKG2D ligands recognition in Hodgkin lymphomas JOURNAL Blood 119 (6), 1479-1489 (2012) PUBMED 22167753 REMARK GeneRIF: Data show that the lymph node (LN) stroma displayed in situ high levels of transcription and expression of the disulfide-isomerase ERp5 and of the disintegrin-metalloproteinase ADAM10, able to shed the ligands for NKG2D (NKG2D-L) from the cell membrane. REFERENCE 3 (bases 1 to 2344) AUTHORS Jessop,C.E., Watkins,R.H., Simmons,J.J., Tasab,M. and Bulleid,N.J. TITLE Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins JOURNAL J. Cell. Sci. 122 (PT 23), 4287-4295 (2009) PUBMED 19887585 REMARK GeneRIF: P5 forms a non-covalent complex with immunoglobulin heavy chain binding protein (BiP) and shows specificity towards BiP client proteins. REFERENCE 4 (bases 1 to 2344) AUTHORS Kaiser,B.K., Yim,D., Chow,I.T., Gonzalez,S., Dai,Z., Mann,H.H., Strong,R.K., Groh,V. and Spies,T. TITLE Disulphide-isomerase-enabled shedding of tumour-associated NKG2D ligands JOURNAL Nature 447 (7143), 482-486 (2007) PUBMED 17495932 REMARK GeneRIF: Pharmacological inhibition of thioreductase activity and ERp5 gene silencing revealed that cell-surface ERp5 function is required for MICA shedding REFERENCE 5 (bases 1 to 2344) AUTHORS Chi,A., Valencia,J.C., Hu,Z.Z., Watabe,H., Yamaguchi,H., Mangini,N.J., Huang,H., Canfield,V.A., Cheng,K.C., Yang,F., Abe,R., Yamagishi,S., Shabanowitz,J., Hearing,V.J., Wu,C., Appella,E. and Hunt,D.F. TITLE Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes JOURNAL J. Proteome Res. 5 (11), 3135-3144 (2006) PUBMED 17081065 REFERENCE 6 (bases 1 to 2344) AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E., Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P. TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004) PUBMED 15302935 REFERENCE 7 (bases 1 to 2344) AUTHORS Basrur,V., Yang,F., Kushimoto,T., Higashimoto,Y., Yasumoto,K., Valencia,J., Muller,J., Vieira,W.D., Watabe,H., Shabanowitz,J., Hearing,V.J., Hunt,D.F. and Appella,E. TITLE Proteomic analysis of early melanosomes: identification of novel melanosomal proteins JOURNAL J. Proteome Res. 2 (1), 69-79 (2003) PUBMED 12643545 REFERENCE 8 (bases 1 to 2344) AUTHORS Kikuchi,M., Doi,E., Tsujimoto,I., Horibe,T. and Tsujimoto,Y. TITLE Functional analysis of human P5, a protein disulfide isomerase homologue JOURNAL J. Biochem. 132 (3), 451-455 (2002) PUBMED 12204115 REMARK GeneRIF: observed to have peptide-binding ability, and chaperone activity was confirmed with rhodanese and citrate synthase as substrates, but not with D-glyceraldehyde-3-phosphate dehydrogenase, showing substrate specificity with respect to chaperone activity REFERENCE 9 (bases 1 to 2344) AUTHORS Hayano,T. and Kikuchi,M. TITLE Cloning and sequencing of the cDNA encoding human P5 JOURNAL Gene 164 (2), 377-378 (1995) PUBMED 7590364 REFERENCE 10 (bases 1 to 2344) AUTHORS Dawson,S.J. and White,L.A. TITLE Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin JOURNAL J. Infect. 24 (3), 317-320 (1992) PUBMED 1602151 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BF979486.1, BC001312.1, AK127433.1 and BM511594.1. On Dec 4, 2003 this sequence version replaced gi:5031972. Summary: Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM, Mar 2008]. 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 :: BC001312.1, AK289428.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-39 BF979486.1 11-49 40-1858 BC001312.1 1-1819 1859-2326 AK127433.1 2215-2682 2327-2344 BM511594.1 1-18 c FEATURES Location/Qualifiers source 1..2344 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p25.1" gene 1..2344 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="protein disulfide isomerase family A, member 6" /db_xref="GeneID:10130" /db_xref="HGNC:30168" /db_xref="HPRD:07504" /db_xref="MIM:611099" exon 1..157 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" CDS 139..1461 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /EC_number="5.3.4.1" /note="protein disulfide isomerase-associated 6; thioredoxin domain containing 7 (protein disulfide isomerase); protein disulfide isomerase-related protein; endoplasmic reticulum protein 5; protein disulfide-isomerase A6; protein disulfide isomerase P5; thioredoxin domain-containing protein 7; ER protein 5" /codon_start=1 /product="protein disulfide-isomerase A6 precursor" /protein_id="NP_005733.1" /db_xref="GI:5031973" /db_xref="CCDS:CCDS1675.1" /db_xref="GeneID:10130" /db_xref="HGNC:30168" /db_xref="HPRD:07504" /db_xref="MIM:611099" /translation="
MALLVLGLVSCTFFLAVNGLYSSSDDVIELTPSNFNREVIQSDSLWLVEFYAPWCGHCQRLTPEWKKAATALKDVVKVGAVDADKHHSLGGQYGVQGFPTIKIFGSNKNRPEDYQGGRTGEAIVDAALSALRQLVKDRLGGRSGGYSSGKQGRSDSSSKKDVIELTDDSFDKNVLDSEDVWMVEFYAPWCGHCKNLEPEWAAAASEVKEQTKGKVKLAAVDATVNQVLASRYGIRGFPTIKIFQKGESPVDYDGGRTRSDIVSRALDLFSDNAPPPELLEIINEDIAKRTCEEHQLCVVAVLPHILDTGAAGRNSYLEVLLKLADKYKKKMWGWLWTEAGAQSELETALGIGGFGYPAMAAINARKMKFALLKGSFSEQGINEFLRELSFGRGSTAPVGGGAFPTIVEREPWDGRDGELPVEDDIDLSDVELDDLGKDEL
" sig_peptide 139..195 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 196..1458 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /product="Protein disulfide-isomerase A6" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15084.1)" misc_feature 214..522 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the...; Region: PDI_a_P5; cd03001" /db_xref="CDD:48550" misc_feature order(301..303,310..312,490..492) /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="catalytic residues [active]" /db_xref="CDD:48550" misc_feature 304..306 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Contributes to redox potential value (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 307..309 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Contributes to redox potential value (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 490..492 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Lowers pKa of C-terminal Cys of first active site (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 622..936 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="PDIa family, P5 subfamily; composed of eukaryotic proteins similar to human P5, a PDI-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is located in the...; Region: PDI_a_P5; cd03001" /db_xref="CDD:48550" misc_feature order(706..708,715..717,904..906) /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="catalytic residues [active]" /db_xref="CDD:48550" misc_feature 709..711 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Contributes to redox potential value (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 712..714 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Contributes to redox potential value (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 904..906 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="Lowers pKa of C-terminal Cys of second active site (By similarity); propagated from UniProtKB/Swiss-Prot (Q15084.1); other site" misc_feature 961..1350 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /note="P5 family, C-terminal redox inactive TRX-like domain; P5 is a protein disulfide isomerase (PDI)-related protein with a domain structure of aa'b (where a and a' are redox active TRX domains and b is a redox inactive TRX-like domain). Like PDI, P5 is...; Region: P5_C; cd02983" /db_xref="CDD:48532" misc_feature 1420..1422 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q15084.1); phosphorylation site" misc_feature 1420..1422 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[6] misc_feature 1447..1458 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15084.1); Region: Prevents secretion from ER (Potential)" exon 158..299 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 237 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /db_xref="dbSNP:4758" variation 280 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="g" /replace="t" /db_xref="dbSNP:200167111" exon 300..357 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" exon 358..484 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" exon 485..591 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 564 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /db_xref="dbSNP:4799" exon 592..722 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 633 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /db_xref="dbSNP:2276679" exon 723..837 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 779 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /db_xref="dbSNP:4807" variation 823 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="g" /db_xref="dbSNP:11545887" exon 838..978 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 905 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="g" /replace="t" /db_xref="dbSNP:1804106" exon 979..1063 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" exon 1064..1136 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" exon 1137..1295 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" exon 1296..1392 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 1328 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:11545888" exon 1393..2328 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /inference="alignment:Splign:1.39.8" variation 1496 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:14337" variation 1543 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:11545886" STS 1659..1801 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /standard_name="RH11818" /db_xref="UniSTS:53905" variation 1680 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:1804107" STS 1702..1828 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /standard_name="SGC31703" /db_xref="UniSTS:51040" variation 1768 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:1804105" variation 1771 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:3208276" STS 1991..2179 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /standard_name="RH70399" /db_xref="UniSTS:57524" variation 2143 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:1060002" variation 2145 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /db_xref="dbSNP:1060005" variation 2179 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="c" /replace="t" /db_xref="dbSNP:1060011" variation 2264 /gene="PDIA6" /gene_synonym="ERP5; P5; TXNDC7" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:11489" ORIGIN
ggcccgcccccgcgcggccgcccctcggaccaccggactggcctggggcgggacgtgggcgcgggggcgcggcgtgcggcacgctgcagggctgaagcggcggcggcggtggggactgcacgtagcccggcgctcggcatggctctcctggtgctcggtctggtgagctgtaccttctttctggcagtgaatggtctgtattcctctagtgatgatgtgatcgaattaactccatcgaatttcaaccgagaagttattcagagtgatagtttgtggcttgtagaattctatgctccatggtgtggtcactgtcaaagattaacaccagaatggaagaaagcagcaactgcattaaaagatgttgtcaaagttggtgcagttgatgcagataagcatcattccctaggaggtcagtatggtgttcagggatttcctaccattaagatttttggatccaacaaaaacagaccagaagattaccaaggtggcagaactggtgaagccattgtagatgctgcgctgagtgctctgcgccagctcgtgaaggatcgcctcgggggacggagcggaggatacagttctggaaaacaaggcagaagtgatagttcaagtaagaaggatgtgattgagctgacagacgacagctttgataagaatgttctggacagtgaagatgtttggatggttgagttctatgctccttggtgtggacactgcaaaaacctagagccagagtgggctgccgcagcttcagaagtaaaagagcagacgaaaggaaaagtgaaactggcagctgtggatgctacagtcaatcaggttctggcctcccgatacgggattagaggatttcctacaatcaagatatttcagaaaggcgagtctcctgtggattatgacggtgggcggacaagatccgacatcgtgtcccgggcccttgatttgttttctgataacgccccacctcctgagctgcttgagattatcaacgaggacattgccaagaggacgtgtgaggagcaccagctctgtgttgtggctgtgctgccccatatccttgatactggagctgcaggcagaaattcttatctggaagttcttctgaagttggcagacaaatacaaaaagaaaatgtgggggtggctgtggacagaagctggagcccagtctgaacttgagaccgcgttggggattggagggtttgggtaccccgccatggccgccatcaatgcacgcaagatgaaatttgctctgctaaaaggctccttcagtgagcaaggcatcaacgagtttctcagggagctctcttttgggcgtggctccacggcacctgtaggaggcggggctttccctaccatcgttgagagagagccttgggacggcagggatggcgagcttcccgtggaggatgacattgacctcagtgatgtggagcttgatgacttagggaaagatgagttgtgagagccacaacagaggcttcagaccattttcttttcttgggagccagtggatttttccagcagtgaagggacattctctacactcagatgactctaccagtggccttttaaccaagaagtagtacttgattggtcatttgaaaacactgcaacagtgaacttttgcatctcaagaaaacattgaaaaattctatgaattgttgtagccggtgaattgagtcgtattctgtcacataatattttgaagaaaacttggctgtcgaaacatttttctctctgactgctgcttgaatgttcttggaggctgtttcttatgtatgggttttttttaatgtgatcccttcatttgaatattaatggctttttccattaaagaataaaatattttggacaatgccgataaatgtatgaagttagtatccacatcataaattcagagtgatgtttagcagtaaatcaatattttgaagtgatacacagatgtctttcctccccacaaacttttttaaacaaaaaacaagacctcttttctttagatggtgccacctatgcccaccacaacagagattttacatggaaaccgggctcagtgagaactgatttcctgcccaatatttgtctttgggctgtctctagtgactaattattaaggaatctagctggttatacagttcaaggctttctatgttgttaatgaacctcaaaatagccgttaagacatgaaatacagcagcaggttaccaatgcgaacaggtagttcgcatttatgtaaaacattcagaaaatgaagttttgaatttgttggaacattcaaaggacttgagagcattttattgtaacttaaaaaaataaatacaactgtcactaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10130 -> Molecular function: GO:0003756 [protein disulfide isomerase activity] evidence: IEA GeneID:10130 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10130 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA GeneID:10130 -> Molecular function: GO:0015035 [protein disulfide oxidoreductase activity] evidence: IEA GeneID:10130 -> Biological process: GO:0006457 [protein folding] evidence: TAS GeneID:10130 -> Biological process: GO:0006662 [glycerol ether metabolic process] evidence: IEA GeneID:10130 -> Biological process: GO:0006987 [activation of signaling protein activity involved in unfolded protein response] evidence: TAS GeneID:10130 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: TAS GeneID:10130 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS GeneID:10130 -> Biological process: GO:0045454 [cell redox homeostasis] evidence: IEA GeneID:10130 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS GeneID:10130 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: IEA GeneID:10130 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS GeneID:10130 -> Cellular component: GO:0005793 [endoplasmic reticulum-Golgi intermediate compartment] evidence: IDA GeneID:10130 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:10130 -> Cellular component: GO:0042470 [melanosome] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_005733 -> EC 5.3.4.1
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