TMX3
Protein disulfide-isomerase TMX3
Also known as: FLJ20793, KIAA1830, PDIA13, TMX3_HUMAN, TXNDC10
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JJ7
- Gene
- TMX3
- Ensembl
- ENSG00000166479
- Chromosome
- 18
- Canonical length
- 454 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
454 residues, UniProt reviewed canonical sequence.
>Q96JJ7|TMX3
1 MAAWKSWTAL RLCATVVVLD MVVCKGFVED LDESFKENRN DDIWLVDFYA PWCGHCKKLE
61 PIWNEVGLEM KSIGSPVKVG KMDATSYSSI ASEFGVRGYP TIKLLKGDLA YNYRGPRTKD
121 DIIEFAHRVS GALIRPLPSQ QMFEHMQKRH RVFFVYVGGE SPLKEKYIDA ASELIVYTYF
181 FSASEEVVPE YVTLKEMPAV LVFKDETYFV YDEYEDGDLS SWINRERFQN YLAMDGFLLY
241 ELGDTGKLVA LAVIDEKNTS VEHTRLKSII QEVARDYRDL FHRDFQFGHM DGNDYINTLL
301 MDELTVPTVV VLNTSNQQYF LLDRQIKNVE DMVQFINNIL DGTVEAQGGD SILQRLKRIV
361 FDAKSTIVSI FKSSPLMGCF LFGLPLGVIS IMCYGIYTAD TDGGYIEERY EVSKSENENQ
421 EQIEESKEQQ EPSSGGSVVP TVQEPKDVLE KKKDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMX3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 26 nTPM
- retina: 24 nTPM
- appendix: 23 nTPM
- thymus: 22 nTPM
- adipose tissue: 21 nTPM
- spleen: 21 nTPM
Single-cell type
- alveolar cells type 1: 85 nCPM
- brain excitatory neurons: 77 nCPM
- pituicytes/fscs: 75 nCPM
- microglia: 74 nCPM
- pdcs: 74 nCPM
- fibro-adipogenic progenitors: 70 nCPM
Immune cell
- plasmacytoid DC: 6.4 nTPM
- MAIT T-cell: 5.5 nTPM
- NK-cell: 4.9 nTPM
- intermediate monocyte: 4.7 nTPM
- myeloid DC: 4.7 nTPM
- T-reg: 4.5 nTPM
Brain region
- cerebellum: 25 nTPM
- cerebral cortex: 24 nTPM
- hypothalamus: 24 nTPM
- basal ganglia: 22 nTPM
- hippocampal formation: 22 nTPM
- pons: 22 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.19
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thioredoxin domain
- Thioredoxin, conserved site
- Thioredoxin-like superfamily
- Thioredoxin
- Thioredoxin-like domain
- Protein disulfide-isomerase TMX3
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TMX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TMX3 as an antibody target. Whether an autoantibody or antibody against TMX3 could matter depends on whether native TMX3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMX3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TMX3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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