ARL6IP1 Gene - ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1
Key regulator of endoplasmic reticulum morphology and apoptosis, implicated in hereditary spastic paraplegia and cancer
Gene Information Card
| Symbol | ARL6IP1 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 23204 ncbi.nlm.nih.gov/gene/23204 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q15041 |
| OMIM ID | 607669 |
| HGNC ID | 697 |
| Aliases | AIP-1, ARL6IP, ARMER, SPG61 |
Description
ARL6IP1 encodes a protein that interacts with ADP-ribosylation factor-like 6 (ARL6) and is involved in maintaining endoplasmic reticulum (ER) morphology, regulating ER stress-induced apoptosis, and modulating intracellular trafficking. Mutations in this gene cause autosomal recessive hereditary spastic paraplegia type 61 (SPG61). The protein also has roles in cancer cell survival and chemoresistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 61 (SPG61) | Loss-of-function mutations impair ER morphology and axonal transport, leading to progressive spasticity and weakness | OMIM #615685; ClinVar; multiple case reports |
| Colorectal cancer | Overexpression promotes chemoresistance by inhibiting apoptosis via ER stress pathway | PMID: 25605249; COSMIC |
| Breast cancer | Altered expression linked to poor prognosis and resistance to therapy | PMID: 29127120; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cell line |
| MCF7 | 9.4 | Breast cancer cell line |
| HCT116 | 11.2 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | Rare | Loss of function; causes SPG61 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; causes SPG61 |
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; causes SPG61 |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss mutations lead to truncated or non-functional protein, impairing ER morphology and causing SPG61.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • apoptotic process (GO:0006915) |
| • integral component of membrane (GO:0016021) | • response to endoplasmic reticulum stress (GO:0034976) |
| • positive regulation of apoptotic process (GO:0043065) | • protein N-terminus binding (GO:0047485) |
Pathways
• Endoplasmic reticulum stress response (UniProt)
• Apoptosis modulation (NCBI Gene)
• Intracellular protein transport (Ensembl)
Protein Summary
ARL6IP1 is a 201-amino-acid transmembrane protein localized to the endoplasmic reticulum. It contains a conserved N-terminal domain that interacts with ARL6 and other partners. The protein is critical for maintaining ER tubular network integrity and regulating ER stress-induced apoptosis. Loss of function leads to axonal degeneration in motor neurons, while overexpression in cancer cells confers resistance to chemotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL6IP1 Knockout HEK293 Cell Line | EDJ-KQ51087 | Human | 23204 | Details Get a Quote |
| ARL6IP1 Knockout HeLa Cell Line | EDJ-KQ55703 | Human | 23204 | Details Get a Quote |
| ARL6IP1 Knockout A-549 Cell Line | EDJ-KQ64200 | Human | 23204 | Details Get a Quote |
| ARL6IP1 Knockout HCT 116 Cell Line | EDJ-KQ72645 | Human | 23204 | Details Get a Quote |
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