UniProt Protein Function: | |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9H0I2 |
NCBI GenInfo Identifier: | 34192230 |
NCBI Gene ID: | 54495 |
NCBI Accession: | BC032325 |
UniProt Secondary Accession: | Q9H0I2 |
UniProt Related Accession: | Q9H0I2,Q96JJ7 |
Molecular Weight: | |
NCBI Full Name: | Homo sapiens thioredoxin-related transmembrane protein 3, mRNA |
NCBI Synonym Full Names: | thioredoxin related transmembrane protein 3 |
NCBI Official Symbol: | TMX3Â Â |
NCBI Official Synonym Symbols: | PDIA13; TXNDC10Â Â |
NCBI Protein Information: | protein disulfide-isomerase TMX3 |
UniProt Protein Name: | Enkurin domain-containing protein 1 |
UniProt Synonym Protein Names: | |
Protein Family: | Protein disulfide-isomerase |
UniProt Gene Name: | ENKD1Â Â |
UniProt Entry Name: | ENKD1_HUMAN |