NBAS Gene Summary [Human]
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
Details
| Type | Protein Coding |
| Official Symbol | NBAS |
| Official Name | NBAS subunit of NRZ tethering complex [Source:HGNC Symbol;Acc:HGNC:15625] |
| Ensembl ID | ENSG00000151779 |
| Bio databases IDs | |
| Aliases | NBAS subunit of NRZ tethering complex |
| Synonyms | 4933425L03Rik, ILFS2, LOC100365604, NAG, NBAS subunit of NRZ tethering complex, neuroblastoma amplified sequence, SOPH |
| 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 NBAS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- Secretory pathway protein Sec39
- Neuroblastoma-amplified sequence, N terminal
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- short stature, optic nerve atrophy, and Pelger-Huet anomaly
- infantile liver failure syndrome type 2
- transient infantile liver failure
- global developmental delay
- major depression
- squamous cell lung cancer
- recurrent fever-related acute liver failure
- conduct disorder
- lung squamous cell carcinoma
regulated by
- BGA002
role in cell
- expression in
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NBAS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retrograde vesicle-mediated transport, Golgi to ER
- protein transport
- nuclear-transcribed mRNA catabolic process
- negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Dsl1p complex
- membrane
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- SNARE binding