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

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; AllianceGenome:HGNC:24718
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: mouse all
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Genomic context

Location:: 18q22.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (68673688..68715108, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (68889797..68931229, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (66340925..66382345, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that TMX3 expression is upregulated in melanoma cell lines and patient samples. TMX knockdown altered mitochondrial organization, enhanced bioenergetics, and elevated mitochondrial- and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress suppressed melanoma proliferation, migration, and xenograft tumor growth by inhibiting NFAT1. TMX1 is associated with poor disease outcome.
Title: Redox signals at the ER-mitochondria interface control melanoma progression.
Haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma.
Title: A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
analysis of TMX3 interdomain stabilization of the N-terminal redox-active domain
Title: Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain.
TMX3 is a thioredoxin-related transmembrane protein of the endoplasmic reticulum
Title: Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum.

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

EBI GWAS Catalog

Description
Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484377

RH98336 (e-PCR)
- UniSTS:85288

RH92978 (e-PCR)
- UniSTS:86327

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein disulfide isomerase activity	IEA Inferred from Electronic Annotation more info
enables protein-disulfide reductase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule membrane	TAS Traceable Author Statement more info

General protein information

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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

EC 5.3.4.1

NP_001337442.1

EC 5.3.4.1

NP_001337443.1

EC 5.3.4.1

NP_001337444.1

EC 5.3.4.1

NP_001337445.1

EC 5.3.4.1

NP_001337446.1

EC 5.3.4.1

NP_061895.3

EC 5.3.4.1

XP_011524336.1

EC 5.3.4.1

XP_011524337.1

EC 5.3.4.1

XP_054174670.1

EC 5.3.4.1

XP_054174671.1

EC 5.3.4.1

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

NG_053149.1 RefSeqGene

Range

5191..46611

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350512.2 → NP_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:27 → 130

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 ...
NM_001350513.2 → NP_001337442.1 protein disulfide-isomerase TMX3 isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AK295551, AK310389, BQ027526

Consensus CDS

CCDS86679.1

UniProtKB/TrEMBL

B4DIE3

Related

ENSP00000402605.2, ENST00000443099.6

Conserved Domains (1) summary

cl00388
Location:27 → 104

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
NM_001350514.2 → NP_001337443.1 protein disulfide-isomerase TMX3 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AK310389, AL832341, BX647846

UniProtKB/TrEMBL

Q3B7X1

Conserved Domains (2) summary

cl00388
Location:27 → 104

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

cl27119
Location:29 → 319

YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]
NM_001350515.2 → NP_001337444.1 protein disulfide-isomerase TMX3 isoform 5

Status: REVIEWED

Source sequence(s)

AK310389, AL832341, BC143400, BX647846

Conserved Domains (1) summary

pfam13848
Location:19 → 196

Thioredoxin_6; Thioredoxin-like domain
NM_001350516.2 → NP_001337445.1 protein disulfide-isomerase TMX3 isoform 5

Status: REVIEWED

Source sequence(s)

AK310389, AL832341, BX647846

Conserved Domains (1) summary

pfam13848
Location:19 → 196

Thioredoxin_6; Thioredoxin-like domain
NM_001350517.2 → NP_001337446.1 protein disulfide-isomerase TMX3 isoform 5

Status: REVIEWED

Source sequence(s)

AK310389, AL832341, AV649664, BX647846

Conserved Domains (1) summary

pfam13848
Location:19 → 196

Thioredoxin_6; Thioredoxin-like domain
NM_019022.5 → NP_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

B3KV75, Q52LT7, Q8N5J0, Q96JJ7, Q9NWJ9

UniProtKB/TrEMBL

Q3B7X1

Related

ENSP00000299608.2, ENST00000299608.7

Conserved Domains (2) summary

cd03000
Location:27 → 130

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:29 → 346

ER_PDI_fam; protein disulfide isomerase, eukaryotic

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

68673688..68715108 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526034.4 → XP_011524336.1 protein disulfide-isomerase TMX3 isoform X1

Conserved Domains (1) summary

cd03000
Location:27 → 130

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 ...
XM_011526035.4 → XP_011524337.1 protein disulfide-isomerase TMX3 isoform X2

Conserved Domains (1) summary

cd03000
Location:27 → 130

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 ...