TMX4 thioredoxin related transmembrane protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMX4provided by HGNC
Official Full Name: thioredoxin related transmembrane protein 4provided by HGNC
Primary source: HGNC:HGNC:25237
See related: Ensembl:ENSG00000125827 MIM:616766; AllianceGenome:HGNC:25237
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDIA14; TXNDC13; DJ971N18.2
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 encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]
Expression: Broad expression in testis (RPKM 50.0), heart (RPKM 24.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (7977346..8019761, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (8019162..8061561, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (7957993..8000408, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data identify a novel transmembrane Trx-like protein 4 (TMX4), in the ER of mammalian cells, and confirm that the Trx-like domain has reductase activity in vitro.
Title: Novel thioredoxin-related transmembrane protein TMX4 has reductase activity.
Data show that features not commonly found in other PDIs characterize TMX4 and suggest unique functional properties of the protein.
Title: A di-arginine motif contributes to the ER localization of the type I transmembrane ER oxidoreductase TMX4.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with TMX4; 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

D8S2279 (e-PCR)
- UniSTS:473907

RH64133 (e-PCR)
- UniSTS:74808

WI-18137 (e-PCR)
- UniSTS:51776

SHGC-82009 (e-PCR)
- UniSTS:102981

D20S1128 (e-PCR)
- UniSTS:8545

G34944 (e-PCR)
- UniSTS:117655

RH66954 (e-PCR)
- UniSTS:90560

SHGC-67771 (e-PCR)
- UniSTS:85959

RH11682 (e-PCR)
- UniSTS:28911

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables disulfide oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear inner membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: thioredoxin-related transmembrane protein 4

Names: protein disulfide isomerase family A, member 14; thioredoxin domain containing 13; thioredoxin domain-containing protein 13

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)

NM_021156.4 → NP_066979.2 thioredoxin-related transmembrane protein 4 precursor

See identical proteins and their annotated locations for NP_066979.2

Status: VALIDATED

Source sequence(s)

AL021396, BC021964, BC044777, HY011753

Consensus CDS

CCDS13101.1

UniProtKB/Swiss-Prot

Q8N4P7, Q8NCC1, Q9H1E5, Q9UJA1, Q9ULQ8

Related

ENSP00000246024.2, ENST00000246024.7

Conserved Domains (1) summary

cd02994
Location:37 → 137

PDI_a_TMX; PDIa family, TMX subfamily; composed of proteins similar to the TRX-related human transmembrane protein, TMX. TMX is a type I integral membrane protein; the N-terminal redox active TRX domain is present in the endoplasmic reticulum (ER) lumen while the ...