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TXNDC12 thioredoxin domain containing 12 [ Homo sapiens (human) ]

Gene ID: 51060, updated on 5-Mar-2024

Summary

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Official Symbol
TXNDC12provided by HGNC
Official Full Name
thioredoxin domain containing 12provided by HGNC
Primary source
HGNC:HGNC:24626
See related
Ensembl:ENSG00000117862 MIM:609448; AllianceGenome:HGNC:24626
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AG1; AGR1; ERP16; ERP18; ERP19; TLP19; hAG-1; PDIA16; hTLP19
Summary
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in colon (RPKM 12.7), thyroid (RPKM 11.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p32.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (52020131..52056171, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51901645..51937676, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52485803..52521843, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAB3B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 883 Neighboring gene ribosomal protein S26 pseudogene 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52470431-52471275 Neighboring gene Sharpr-MPRA regulatory region 8174 Neighboring gene RNA, 7SL, cytoplasmic 290, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1030 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52520887-52521291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52521457-52522170 Neighboring gene TXNDC12 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52522171-52522882 Neighboring gene KTI12 chromatin associated homolog Neighboring gene basic transcription factor 3 like 4 Neighboring gene collagen alpha-2(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 885 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:52613533-52614066 Neighboring gene RNA, 7SL, cytoplasmic 788, pseudogene Neighboring gene zinc finger FYVE-type containing 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical Value of TXNDC12 Combined With IDH and 1p19q as Biomarkers for Prognosis of Glioma. Wang X, et al. Pathol Oncol Res, 2021. PMID 34629960, Free PMC Article
  2. ERp19 contributes to tumorigenicity in human gastric cancer by promoting cell growth, migration and invasion. Wu J, et al. Oncotarget, 2015 May 20. PMID 25940440, Free PMC Article
  3. Solution structure and dynamics of ERp18, a small endoplasmic reticulum resident oxidoreductase . Rowe ML, et al. Biochemistry, 2009 Jun 2. PMID 19361226
  4. Isolation and characterization of a novel human thioredoxin-like gene hTLP19 encoding a secretory protein. Liu F, et al. Gene, 2003 Oct 2. PMID 14557066
  5. TXNDC12 promotes EMT and metastasis of hepatocellular carcinoma cells via activation of β-catenin. Yuan K, et al. Cell Death Differ, 2020 Apr. PMID 31570854, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Value of TXNDC12 Combined With IDH and 1p19q as Biomarkers for Prognosis of Glioma.
    Title: Clinical Value of TXNDC12 Combined With IDH and 1p19q as Biomarkers for Prognosis of Glioma.
  2. TXNDC12 promotes EMT and metastasis of hepatocellular carcinoma cells via activation of beta-catenin.
    Title: TXNDC12 promotes EMT and metastasis of hepatocellular carcinoma cells via activation of β-catenin.
  3. Data demonstrate that ERp18 monitors ATF6a endoplasmic reticulum quality control to ensure optimal processing following trafficking to the Golgi.
    Title: ERp18 regulates activation of ATF6α during unfolded protein response.
  4. We conclude that ERp19 contributes to tumorigenicity and metastasis of gastric cancer
    Title: ERp19 contributes to tumorigenicity in human gastric cancer by promoting cell growth, migration and invasion.
  5. ERp18 shows specificity towards a component of the complement cascade, pentraxin-related protein PTX3.
    Title: Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins.
  6. the solution structure of oxidized ERp18 as determined using NMR spectroscopy
    Title: Solution structure and dynamics of ERp18, a small endoplasmic reticulum resident oxidoreductase .
  7. ERp16 mediates disulfide bond formation in the ER and plays an important role in cellular defense against prolonged ER stress
    Title: ERp16, an endoplasmic reticulum-resident thiol-disulfide oxidoreductase: biochemical properties and role in apoptosis induced by endoplasmic reticulum stress.
  8. putative physiological role for endoplasmic reticulum thioredoxin superfamily member p18(ERp18) in native disulfide bond formation is discussed
    Title: Functional characterization of ERp18, a new endoplasmic reticulum-located thioredoxin superfamily member.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-disulfide reductase (glutathione) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-disulfide reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
thioredoxin domain-containing protein 12
Names
ER protein 18
ER protein 19
anterior gradient homolog 1
endoplasmic reticulum protein ERp19
endoplasmic reticulum resident protein 18
endoplasmic reticulum resident protein 19
endoplasmic reticulum thioredoxin superfamily member, 18 kDa
protein disulfide isomerase family A, member 16
thioredoxin domain containing 12 (endoplasmic reticulum)
thioredoxin-like protein p19
NP_056997.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015913.4 → NP_056997.1  thioredoxin domain-containing protein 12 precursor

    See identical proteins and their annotated locations for NP_056997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AL445685
    Consensus CDS
    CCDS561.1
    UniProtKB/Swiss-Prot
    B3KQS0, O95881, Q5T1T4, Q96H50
    Related
    ENSP00000360688.4, ENST00000371626.9
    Conserved Domains (1) summary
    cd02959
    Location:36 → 152
    ERp19; Endoplasmic reticulum protein 19 (ERp19) family; ERp19 is also known as ERp18, a protein located in the ER containing one redox active TRX domain. Denaturation studies indicate that the reduced form is more stable than the oxidized form, suggesting that ...

RNA

  1. NR_046405.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, found in variant 1.
    Source sequence(s)
    AL445685, DA277685

  2. NR_046406.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, found in variant 1.
    Source sequence(s)
    AL445685, FY213077

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    52020131..52056171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    51901645..51937676 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95881.1 GenPept UniProtKB/Swiss-Prot:O95881

Gene LinkOut

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