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

    Gene ID: 51060, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See TXNDC12 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (52020131..52056171, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51901645..51937676, complement)
    RS_2024_09 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. Solution structure and dynamics of ERp18, a small endoplasmic reticulum resident oxidoreductase . Rowe ML, et al. Biochemistry, 2009 Jun 2. PMID 19361226
    3. 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
    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. ERp18 regulates activation of ATF6α during unfolded protein response. Oka OB, et al. EMBO J, 2019 Aug 1. PMID 31368601, Free PMC Article

    See all (70) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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