RETREG1 Gene Summary [Human]
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | RETREG1 |
| Official Name | reticulophagy regulator 1 [Source:HGNC Symbol;Acc:HGNC:25964] |
| Ensembl ID | ENSG00000154153 |
| Bio databases IDs | |
| Aliases | reticulophagy regulator 1 |
| Synonyms | 1810015C04Rik, FAM134B, FLJ20152, JK-1, LOC103689968, reticulophagy regulator 1, Retreg1d |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RETREG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Reticulon
- protein binding activity, bridging
- protein binding
- Arl6IP1_RETR3-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- organismal death
- squamous-cell carcinoma
- squamous cell cancer
- hereditary sensory and autonomic neuropathy type 2B
- hereditary disorder
- venous thromboembolism
- hereditary sensory neuropathy type II
- hereditary sensory and autonomic neuropathy
role in cell
- expression in
- apoptosis
- cell death
- cell viability
- growth
- phosphorylation in
- differentiation
- proliferation
- loss
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- vesicles
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- cis Golgi networks
- nucleoli
- nuclear bodies
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RETREG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- white fat cell differentiation
- sensory perception of pain
- collagen catabolic process
- macromitophagy
- endoplasmic reticulum organization
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cis-Golgi network
- nuclear body
- endoplasmic reticulum
- nucleolus
Molecular Function
What the gene product does at the molecular level
- protein binding