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TMX3 thioredoxin related transmembrane protein 3 [ Homo sapiens (human) ]

Gene ID: 54495, updated on 2-Mar-2021

Summary

Official Symbol
TMX3provided by HGNC
Official Full Name
thioredoxin related transmembrane protein 3provided by HGNC
Primary source
HGNC:HGNC:24718
See related
Ensembl:ENSG00000166479 MIM:616102
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
PDIA13; TXNDC10
Summary
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 10.9) and 25 other tissues See more
Orthologs
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Genomic context

See TMX3 in Genome Data Viewer
Location:
18q22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (68673688..68715112, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (66340925..66382345, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member B10 pseudogene 2 Neighboring gene metallothionein-like 3, pseudogene Neighboring gene coiled-coil domain containing 102B Neighboring gene RNA, U6 small nuclear 39, pseudogene Neighboring gene succinate dehydrogenase complex subunit C pseudogene 1

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?

Phenotypes

Associated conditions

Description Tests
Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TMX3; predicted interaction to be within the endoplasmic reticulum and function as thioredoxin reductase PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20793, KIAA1830

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide isomerase activity IEA
Inferred from Electronic Annotation
more info
 
thiol oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
peptidyl-cysteine oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-cysteine oxidation IDA
Inferred from Direct Assay
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
protein phosphopantetheinylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein disulfide-isomerase TMX3
Names
protein disulfide isomerase family A, member 13
thioredoxin domain containing 10
thioredoxin domain-containing protein 10
NP_001337441.1
NP_001337442.1
NP_001337443.1
NP_001337444.1
NP_001337445.1
NP_001337446.1
NP_061895.3
XP_011524336.1
XP_011524337.1

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.

Genomic

  1. NG_053149.1 RefSeqGene

    Range
    5191..46611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350512.2NP_001337441.1  protein disulfide-isomerase TMX3 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AK310389, BC032325
    Consensus CDS
    CCDS86680.1
    Related
    ENSP00000457262.1, ENST00000562706.5
    Conserved Domains (1) summary
    cd03000
    Location:27130
    PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
  2. NM_001350513.2NP_001337442.1  protein disulfide-isomerase TMX3 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AK295551, AK310389, BQ027526
    Consensus CDS
    CCDS86679.1
    Related
    ENSP00000402605.2, ENST00000443099.6
    Conserved Domains (1) summary
    cl00388
    Location:27104
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. NM_001350514.2NP_001337443.1  protein disulfide-isomerase TMX3 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AK310389, AL832341, BX647846
    Conserved Domains (2) summary
    cl00388
    Location:27104
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    cl27119
    Location:29319
    YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]
  4. NM_001350515.2NP_001337444.1  protein disulfide-isomerase TMX3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK310389, AL832341, BC143400, BX647846
    Conserved Domains (1) summary
    pfam13848
    Location:19196
    Thioredoxin_6; Thioredoxin-like domain
  5. NM_001350516.2NP_001337445.1  protein disulfide-isomerase TMX3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK310389, AL832341, BX647846
    Conserved Domains (1) summary
    pfam13848
    Location:19196
    Thioredoxin_6; Thioredoxin-like domain
  6. NM_001350517.2NP_001337446.1  protein disulfide-isomerase TMX3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK310389, AL832341, AV649664, BX647846
    Conserved Domains (1) summary
    pfam13848
    Location:19196
    Thioredoxin_6; Thioredoxin-like domain
  7. NM_019022.5NP_061895.3  protein disulfide-isomerase TMX3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_061895.3

    Status: REVIEWED

    Source sequence(s)
    AK310389, AL832341, BX647846
    Consensus CDS
    CCDS32840.1
    UniProtKB/Swiss-Prot
    Q96JJ7
    Related
    ENSP00000299608.2, ENST00000299608.7
    Conserved Domains (2) summary
    cd03000
    Location:27130
    PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
    TIGR01130
    Location:29346
    ER_PDI_fam; protein disulfide isomerase, eukaryotic

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    68673688..68715112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526034.3XP_011524336.1  protein disulfide-isomerase TMX3 isoform X1

    Conserved Domains (1) summary
    cd03000
    Location:27130
    PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
  2. XM_011526035.3XP_011524337.1  protein disulfide-isomerase TMX3 isoform X2

    Conserved Domains (1) summary
    cd03000
    Location:27130
    PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...

RNA

  1. XR_935227.2 RNA Sequence

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