ARL6IP1 Gene Summary [Human]
This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | ARL6IP1 |
| Official Name | ADP ribosylation factor like GTPase 6 interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:697] |
| Ensembl ID | ENSG00000170540 |
| Bio databases IDs | |
| Aliases | ADP ribosylation factor like GTPase 6 interacting protein 1 |
| Synonyms | ADP-ribosylation factor-like 6 interacting protein 1, AIP1, AIP-6, ARL6 interacting reticulophagy regulator 1, ARL6IP, ARMER, Clone MGC:5360, KIAA0069, mKIAA0069, SPG61 |
| 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 ARL6IP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- identical 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
- autosomal recessive spastic paraplegia type 61
- postural deformity of limb
- gait disturbance
- hereditary spastic paraplegia
role in cell
- expression in
- quantity
- apoptosis
- number
- cell death
- formation
- autophagy
- autophagy in
- mitophagy in
- expansion in
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
- endoplasmic reticulum tubules
- intracellular space
- cellular membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- mitochondria-associated membranes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARL6IP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of L-glutamate transport
- cotranslational protein targeting to membrane
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of apoptotic process
- apoptotic process
- endoplasmic reticulum tubular network assembly
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum tubular network
- membrane
- cytosol
- endoplasmic reticulum
- Sec61 translocon complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding