Gene Gene information from NCBI Gene database.
Entrez ID 81542
Gene name Thioredoxin related transmembrane protein 1
Gene symbol TMX1
Synonyms (NCBI Gene)
PDIA11TMXTXNDCTXNDC1
Chromosome 14
Chromosome location 14q22.1
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 ac
miRNA miRNA information provided by mirtarbase database.
592
miRTarBase ID miRNA Experiments Reference
MIRT005279 hsa-miR-1-3p pSILAC 18668040
MIRT005279 hsa-miR-1-3p Proteomics;Other 18668040
MIRT341525 hsa-miR-4517 PAR-CLIP 22100165
MIRT442938 hsa-miR-513b-3p PAR-CLIP 22100165
MIRT442937 hsa-miR-3163 PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IDA 29932915
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0004857 Function Enzyme inhibitor activity IDA 37648867
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610527 15487 ENSG00000139921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3N1
Protein name Thioredoxin-related transmembrane protein 1 (Protein disulfide-isomerase TMX1) (EC 5.3.4.1) (Thioredoxin domain-containing protein 1) (Transmembrane Trx-related protein)
Protein function Thiredoxin domain-containing protein that participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions (PubMed:11152479, PubMed:37648867).
PDB 1X5E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 30 129 Thioredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:11152479). Highly expressed in kidney, liver, placenta and lung (PubMed:11152479). {ECO:0000269|PubMed:11152479}.
Sequence
MAPSGSLAVPLAVLVLLLWGAPWTHGRRSNVRVITDENWRELLEGDWMIEFYAPWCPACQ
NLQPEWESFAEWGEDLEVNIAKVDVTEQPGLSGRFIITALPTIYHCKDGEFRRYQGPRTK
KDFINFISD
KEWKSIEPVSSWFGPGSVLMSSMSALFQLSMWIRTCHNYFIEDLGLPVWGS
YTVFALATLFSGLLLGLCMIFVADCLCPSKRRRPQPYPYPSKKLLSESAQPLKKVEEEQE
ADEEDVSEEEAESKEGTNKDFPQNAIRQRSLGPSLATDKS
Sequence length 280
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bladder Neoplasm Bladder Neoplasm BEFREE 29767328
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24928087
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 36106447 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38147024 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29767328
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 38147024 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 30089763
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders BEFREE 24225049
★☆☆☆☆
Found in Text Mining only
Diabetic Neuropathies Diabetic Nephropathy BEFREE 30044099
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 31608530
★☆☆☆☆
Found in Text Mining only