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2024-04-20 07:44:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001145549 3195 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens thioredoxin domain containing 5 (endoplasmic
reticulum) (TXNDC5), transcript variant 3, mRNA.
ACCESSION NM_001145549
VERSION NM_001145549.2 GI:313482855
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 3195)
AUTHORS Funkner,A., Parthier,C., Schutkowski,M., Zerweck,J., Lilie,H.,
Gyrych,N., Fischer,G., Stubbs,M.T. and Ferrari,D.M.
TITLE Peptide binding by catalytic domains of the protein disulfide
isomerase-related protein ERp46
JOURNAL J. Mol. Biol. 425 (8), 1340-1362 (2013)
PUBMED 23376096
REMARK GeneRIF: Authors show that ERp46 is able to bind to a large pool of
peptides containing aromatic and basic residues via all three of
its catalytic domains (a(0), a and a'), though the a(0) domain may
contain the primary binding site.
REFERENCE 2 (bases 1 to 3195)
AUTHORS Wang,L., Zheng,Y., Xu,H., Yan,X. and Chang,X.
TITLE Investigate pathogenic mechanism of TXNDC5 in rheumatoid arthritis
JOURNAL PLoS ONE 8 (1), E53301 (2013)
PUBMED 23326410
REMARK GeneRIF: Hypoxia induced TXCNDC5 expression, which contributed to
adiponectin expression, cytokine production and the cellular
proliferation and migration of fibroblasts in rheumatoid arthritis.
REFERENCE 3 (bases 1 to 3195)
AUTHORS Gulerez,I.E., Kozlov,G., Rosenauer,A. and Gehring,K.
TITLE Structure of the third catalytic domain of the protein disulfide
isomerase ERp46
JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 68 (PT 4),
378-381 (2012)
PUBMED 22505402
REMARK GeneRIF: crystal structure of the third catalytic domain of protein
disulfide isomerase ERp46 (also known as protein disulfide
isomerase A5 and TXNDC5) was determined to 2.0 A resolution
REFERENCE 4 (bases 1 to 3195)
AUTHORS Vincent,E.E., Elder,D.J., Phillips,L., Heesom,K.J., Pawade,J.,
Luckett,M., Sohail,M., May,M.T., Hetzel,M.R. and Tavare,J.M.
TITLE Overexpression of the TXNDC5 protein in non-small cell lung
carcinoma
JOURNAL Anticancer Res. 31 (5), 1577-1582 (2011)
PUBMED 21617212
REMARK GeneRIF: Overexpression of the TXNDC5 protein is associated with
non-small cell lung carcinoma.
REFERENCE 5 (bases 1 to 3195)
AUTHORS Chang,X., Zhao,Y., Yan,X., Pan,J., Fang,K. and Wang,L.
TITLE Investigating a pathogenic role for TXNDC5 in rheumatoid arthritis
JOURNAL Arthritis Res. Ther. 13 (4), R124 (2011)
PUBMED 21801346
REMARK GeneRIF: TXNDC5 has a genetic effect on the risk of rheumatoid
arthritis and ankylosing spondylitis
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 3195)
AUTHORS So,H.C., Fong,P.Y., Chen,R.Y., Hui,T.C., Ng,M.Y., Cherny,S.S.,
Mak,W.W., Cheung,E.F., Chan,R.C., Chen,E.Y., Li,T. and Sham,P.C.
TITLE Identification of neuroglycan C and interacting partners as
potential susceptibility genes for schizophrenia in a Southern
Chinese population
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (1), 103-113
(2010)
PUBMED 19367581
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 7 (bases 1 to 3195)
AUTHORS Wang,Y., Ma,Y., Lu,B., Xu,E., Huang,Q. and Lai,M.
TITLE Differential expression of mimecan and thioredoxin
domain-containing protein 5 in colorectal adenoma and cancer: a
proteomic study
JOURNAL Exp. Biol. Med. (Maywood) 232 (9), 1152-1159 (2007)
PUBMED 17895523
REMARK GeneRIF: upregulation of TXNDC5 are involved in the early
development of colorectal cancer
REFERENCE 8 (bases 1 to 3195)
AUTHORS Nissom,P.M., Lo,S.L., Lo,J.C., Ong,P.F., Lim,J.W., Ou,K.,
Liang,R.C., Seow,T.K. and Chung,M.C.
TITLE Hcc-2, a novel mammalian ER thioredoxin that is differentially
expressed in hepatocellular carcinoma
JOURNAL FEBS Lett. 580 (9), 2216-2226 (2006)
PUBMED 16574106
REFERENCE 9 (bases 1 to 3195)
AUTHORS Sullivan,D.C., Huminiecki,L., Moore,J.W., Boyle,J.J., Poulsom,R.,
Creamer,D., Barker,J. and Bicknell,R.
TITLE EndoPDI, a novel protein-disulfide isomerase-like protein that is
preferentially expressed in endothelial cells acts as a stress
survival factor
JOURNAL J. Biol. Chem. 278 (47), 47079-47088 (2003)
PUBMED 12963716
REMARK GeneRIF: Member of the protein disulphide isomerase family and
highly expressed in endothelial cells. Protects endothelial cells
from apoptosis under hypoxia.
REFERENCE 10 (bases 1 to 3195)
AUTHORS Knoblach,B., Keller,B.O., Groenendyk,J., Aldred,S., Zheng,J.,
Lemire,B.D., Li,L. and Michalak,M.
TITLE ERp19 and ERp46, new members of the thioredoxin family of
endoplasmic reticulum proteins
JOURNAL Mol. Cell Proteomics 2 (10), 1104-1119 (2003)
PUBMED 12930873
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK315598.1, AY358646.1 and
AY326464.1.
On Dec 3, 2010 this sequence version replaced gi:224493971.
Summary: This gene encodes a protein-disulfide isomerase. Its
expression is induced by hypoxia and its role may be to protect
hypoxic cells from apoptosis. Alternative splicing results in
multiple transcript variants. Read-through transcription also
exists between this gene and the neighboring upstream MUTED (muted
homolog) gene. [provided by RefSeq, Dec 2010].
Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
portion of the 5' coding region and uses a downstream start codon,
compared to variant 1. The resulting isoform (3) is shorter at the
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 :: AK315598.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084, ERS025098 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-154 AK315598.1 1-154
155-1301 AK315598.1 156-1302
1302-2926 AY358646.1 1332-2956
2927-3195 AY326464.1 2971-3239
FEATURES Location/Qualifiers
source 1..3195
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p24.3"
gene 1..3195
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="thioredoxin domain containing 5 (endoplasmic
reticulum)"
/db_xref="GeneID:81567"
/db_xref="HGNC:21073"
exon 1..265
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
misc_feature 252..254
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="upstream in-frame stop codon"
exon 266..415
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
CDS 327..1301
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="isoform 3 is encoded by transcript variant 3;
thioredoxin related protein; protein disulfide isomerase
family A, member 15; endothelial protein disulphide
isomerase; thioredoxin-like protein p46; endoplasmic
reticulum protein ERp46; ER protein 46; endoplasmic
reticulum resident protein 46"
/codon_start=1
/product="thioredoxin domain-containing protein 5 isoform
3"
/protein_id="NP_001139021.1"
/db_xref="GI:224493972"
/db_xref="CCDS:CCDS47369.1"
/db_xref="GeneID:81567"
/db_xref="HGNC:21073"
/translation="
MEDAKVYVAKVDCTAHSDVCSAQGVRGYPTLKLFKPGQEAVKYQGPRDFQTLENWMLQTLNEEPVTPEPEVEPPSAPELKQGLYELSASNFELHVAQGDHFIKFFAPWCGHCKALAPTWEQLALGLEHSETVKIGKVDCTQHYELCSGNQVRGYPTLLWFRDGKKVDQYKGKRDLESLREYVESQLQRTETGATETVTPSEAPVLAAEPEADKGTVLALTENNFDDTIAEGITFIKFYAPWCGHCKTLAPTWEELSKKEFPGLAGVKIAEVDCTAERNICSKYSVRGYPTLLLFRGGKKVSEHSGGRDLDSLHRFVLSQAKDEL
"
misc_feature <330..494
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="Protein Disulfide Oxidoreductases and Other
Proteins with a Thioredoxin fold; Region:
Thioredoxin_like; cl00388"
/db_xref="CDD:213097"
misc_feature 570..872
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="PDIa family, endoplasmic reticulum protein 46
(ERp46) subfamily; ERp46 is an ER-resident protein
containing three redox active TRX domains. Yeast
complementation studies show that ERp46 can substitute for
protein disulfide isomerase (PDI) function in...; Region:
PDI_a_ERp46; cd03005"
/db_xref="CDD:48554"
misc_feature order(651..653,660..662,843..845)
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="catalytic residues [active]"
/db_xref="CDD:48554"
misc_feature 969..1274
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="PDIa family, endoplasmic reticulum protein 46
(ERp46) subfamily; ERp46 is an ER-resident protein
containing three redox active TRX domains. Yeast
complementation studies show that ERp46 can substitute for
protein disulfide isomerase (PDI) function in...; Region:
PDI_a_ERp46; cd03005"
/db_xref="CDD:48554"
misc_feature order(1050..1052,1059..1061,1245..1247)
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="catalytic residues [active]"
/db_xref="CDD:48554"
exon 416..521
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 522..618
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 619..734
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 735..821
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 822..965
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 966..1048
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 1049..1178
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
exon 1179..3195
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/inference="alignment:Splign:1.39.8"
variation 1552
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541846"
variation 1605
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace="a"
/replace="g"
/db_xref="dbSNP:8643"
variation 2180
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace="a"
/replace="g"
/db_xref="dbSNP:1062680"
STS 2617..2839
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/standard_name="NIB594"
/db_xref="UniSTS:19406"
STS 2650..2766
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/standard_name="A002L04"
/db_xref="UniSTS:3730"
variation 2747
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace="a"
/replace="g"
/db_xref="dbSNP:1043784"
STS 2776..2879
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/standard_name="WI-13193"
/db_xref="UniSTS:6694"
variation 2814..2815
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace=""
/replace="tt"
/db_xref="dbSNP:3031019"
variation 2817..2825
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace=""
/replace="tacacacaa"
/db_xref="dbSNP:3031020"
polyA_signal 2907..2912
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
variation 2915
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/replace="c"
/replace="t"
/db_xref="dbSNP:200877924"
polyA_site 2928
/gene="TXNDC5"
/gene_synonym="ENDOPDI; ERP46; HCC-2; PDIA15; STRF8;
UNQ364"
/note="This is an internal polyA site. The 3'-most polyA
site has not yet been determined."
ORIGIN
aattcaaccgcctcttgcacctcggcaccgagggaggggaaggtggggtcgtcgccctttcgggcagccgggagtccaaatgtcaccccgcggtccctgcccagcgccccaaacttcctgtgccggccggacgcgcggcctgcccgtgggccacgtgcactcaccagagcggccttgctgctgccgcggccaccggggtcggctgggacagactgcgggcacgtccccttccagaggctttaactgaaaaatagaacccaggaaggtgtggacactgccagcggctgcagccgacttggaatgacctgggagacaaatacaacagcatggaagatgccaaagtctatgtggctaaagtggactgcacggcccactccgacgtgtgctccgcccagggggtgcgaggataccccaccttaaagcttttcaagccaggccaagaagctgtgaagtaccagggtcctcgggacttccagacactggaaaactggatgctgcagacactgaacgaggagccagtgacaccagagccggaagtggaaccgcccagtgcccccgagctcaagcaagggctgtatgagctctcagcaagcaactttgagctgcacgttgcacaaggcgaccactttatcaagttcttcgctccgtggtgtggtcactgcaaagccctggctccaacctgggagcagctggctctgggccttgaacattccgaaactgtcaagattggcaaggttgattgtacacagcactatgaactctgctccggaaaccaggttcgtggctatcccactcttctctggttccgagatgggaaaaaggtggatcagtacaagggaaagcgggatttggagtcactgagggagtacgtggagtcgcagctgcagcgcacagagactggagcgacggagaccgtcacgccctcagaggccccggtgctggcagctgagcccgaggctgacaagggcactgtgttggcactcactgaaaataacttcgatgacaccattgcagaaggaataaccttcatcaagttttatgctccatggtgtggtcattgtaagactctggctcctacttgggaggaactctctaaaaaggaattccctggtctggcgggggtcaagatcgccgaagtagactgcactgctgaacggaatatctgcagcaagtattcggtacgaggctaccccacgttattgcttttccgaggagggaagaaagtcagtgagcacagtggaggcagagaccttgactcgttacaccgctttgtcctgagccaagcgaaagacgaactttaggaacacagttggaggtcacctctcctgcccagctcccgcaccctgcgtttaggagttcagtcccacagaggccactgggttcccagtggtggctgttcagaaagcagaacatactaagcgtgaggtatcttctttgtgtgtgtgttttccaagccaacacactctacagattctttattaagttaagtttctctaagtaaatgtgtaactcatggtcactgtgtaaacattttcagtggcgatatatcccctttgaccttctcttgatgaaatttacatggtttcctttgagactaaaatagcgttgagggaaatgaaattgctggactatttgtggctcctgagttgagtgattttggtgaaagaaagcacatccaaagcatagtttacctgcccacgagttctggaaaggtggccttgtggcagtattgacgttcctctgatcttaaggtcacagttgactcaatactgtgttggtccgtagcatggagcagattgaaatgcaaaaacccacacctctggaagataccttcacggccgctgctggagcttctgttgctgtgaatacttctctcagtgtgagaggttagccgtgatgaaagcagcgttacttctgaccgtgcctgagtaagagaatgctgatgccataactttatgtgtcgatacttgtcaaatcagttactgttcaggggatccttctgtttctcacggggtgaaacatgtctttagttcctcatgttaacacgaagccagagcccacatgaactgttggatgtcttccttagaaagggtaggcatggaaaattccacgaggctcattctcagtatctcattaactcattgaaagattccagttgtatttgtcacctggggtgacaagaccagacaggctttcccaggcctgggtatccagggaggctctgcagccctgctgaagggccctaactagagttctagagtttctgattctgtttctcagtagtccttttagaggcttgctatacttggtctgcttcaaggaggtcgaccttctaatgtatgaagaatgggatgcatttgatctcaagaccaaagacagatgtcagtgggctgctctggccctggtgtgcacggctgtggcagctgttgatgccagtgtcctctaactcatgctgtccttgtgattaaacacctctatctcccttgggaataagcacatacaggcttaagctctaagatagataggtgtttgtccttttaccatcgagctacttcccataataaccactttgcatccaacactcttcacccacctcccatacgcaaggggatgtggatacttggcccaaagtaactggtggtaggaatcttagaaacaagaccacttatactgtctgtctgaggcagaagataacagcagcatctcgaccagcctctgccttaaaggaaatctttattaatcacgtatggttcacagataattctttttttaaaaaaacccaacctcctagagaagcacaactgtcaagagtcttgtacacacaacttcagctttgcatcacgagtcttgtattccaagaaaatcaaagtggtacaatttgtttgtttacactatgatactttctaaataaactctttttttttaaaagtctggtctttccttcaatgttacagcaaaacagatataaaatagacaataaattatagtttatatttacaaaaaaagctgtaagtgcaaacagttgtagattataaatgtattatttaatcagtttagtatgaaattgccttcccagtacatgattgtgaaaaagacatttagaaaatattctaaaatttaatctgagcctcactttctacaagggaaatcatgatttccgttcataaacagcatgctcatccccctaacaccatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:81567 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA
GeneID:81567 -> Molecular function: GO:0015035 [protein disulfide oxidoreductase activity] evidence: IEA
GeneID:81567 -> Molecular function: GO:0016853 [isomerase activity] evidence: IEA
GeneID:81567 -> Biological process: GO:0006662 [glycerol ether metabolic process] evidence: IEA
GeneID:81567 -> Biological process: GO:0006892 [post-Golgi vesicle-mediated transport] evidence: TAS
GeneID:81567 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:81567 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:81567 -> Biological process: GO:0045454 [cell redox homeostasis] evidence: IEA
GeneID:81567 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS
GeneID:81567 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: IEA
GeneID:81567 -> Cellular component: GO:0043202 [lysosomal lumen] evidence: TAS
by
@meso_cacase at
DBCLS
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