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TMX1 thioredoxin related transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 81542, updated on 17-Jun-2024

Summary

Official Symbol
TMX1provided by HGNC
Official Full Name
thioredoxin related transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:15487
See related
Ensembl:ENSG00000139921 MIM:610527; AllianceGenome:HGNC:15487
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
TMX; TXNDC; PDIA11; TXNDC1
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, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in urinary bladder (RPKM 15.6), colon (RPKM 14.8) and 25 other tissues See more
Orthologs
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Genomic context

See TMX1 in Genome Data Viewer
Location:
14q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (51240247..51257655)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45446717..45464426)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51706965..51724373)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC400212 Neighboring gene Sharpr-MPRA regulatory region 6562 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:51452525-51453231 Neighboring gene tripartite motif containing 9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51495109-51496308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8371 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:51706801-51707143 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8373 Neighboring gene uncharacterized LOC124903315 Neighboring gene long intergenic non-protein coding RNA 519

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TMX1; 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

Clone Names

  • DKFZp564E1962

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables disulfide oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables disulfide oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein disulfide isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-disulfide reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thioredoxin-related transmembrane protein 1
Names
protein disulfide isomerase family A, member 11
protein disulfide-isomerase TMX1
thioredoxin domain containing 1
thioredoxin domain-containing protein 1
transmembrane Trx-related protein
NP_110382.3

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_030755.5NP_110382.3  thioredoxin-related transmembrane protein 1 precursor

    See identical proteins and their annotated locations for NP_110382.3

    Status: VALIDATED

    Source sequence(s)
    AB048246, AL591807, BC056874, BU754378
    Consensus CDS
    CCDS41953.1
    UniProtKB/Swiss-Prot
    B2R7A4, Q8N487, Q8NBN5, Q9H3N1, Q9Y4T6
    Related
    ENSP00000393316.2, ENST00000457354.7
    Conserved Domains (1) summary
    cd02994
    Location:29129
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    51240247..51257655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    45446717..45464426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)