ARL6IP1

Chr 16p12.3

ARL6 interacting reticulophagy regulator 1

Aliases:: AIP1, ARMER, KIAA0069, SPG61
MANE:: ENST00000304414.12

OMIM: 607669 ↗NCBI: 23204 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ARL6IP1 · Q15041

v62025-08-01

Predicted Aligned Error matrix for ARL6IP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.8/ 100

Confident

203 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)82%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary spastic paraplegia 61
0.73
Autosomal recessive spastic paraplegia type 61
0.69
hereditary spastic paraplegia
0.39
hereditary disease
0.19
alcohol drinking
0.08
urolithiasis
0.08
Familial exudative vitreoretinopathy
0.06
Abnormality of refraction
0.05
Leber congenital amaurosis
0.05
Stargardt disease
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ADP-ribosylation factor-like protein 6-interacting protein 1

Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579)