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

Gene ID: 51060, updated on 7-Jun-2020

Summary

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
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

Genomic context

See TXNDC12 in Genome Data Viewer
Location:
1p32.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (52020131..52056171, complement)
105 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 RNA, 7SL, cytoplasmic 290, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8174 Neighboring gene KTI12 chromatin associated homolog Neighboring gene TXNDC12 antisense RNA 1 Neighboring gene basic transcription factor 3 like 4 Neighboring gene uncharacterized LOC107984956

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptide disulfide oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide disulfide oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-disulfide reductase (glutathione) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_015913.4NP_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
    O95881
    Related
    ENSP00000360688.4, ENST00000371626.9
    Conserved Domains (1) summary
    cd02959
    Location:36152
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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