ARL6IP1
entrez
23204
canonical
uniprot
Q15041
canonical
ensembl
ENSG00000170540
resolver
ensp
ENSP00000306788
resolver
ensp
ENSP00000440048
resolver
genesymbol
ARL6IP1
resolver
genesymbol_syn
ARL6IP
resolver
genesymbol_syn
ARMER
resolver
genesymbol_syn
KIAA0069
resolver
hgnc
HGNC:697
resolver
uniprot
B7Z6S5
resolver
uniprot
B7Z791
resolver
uniprot
F5GXP4
resolver
uniprot_entry
AR6P1_HUMAN
resolver
uniprot_sec
B7Z6S5
resolver
uniprot_sec
B7Z791
resolver
uniprot_sec
F5GXP4
resolver
amino_acid_sequence
MAEGDNRSTNLLAAETASLEEQLQGWGEVMLMADKVLRWERAWFPPAIMGVVSLVFLIIYYLDPSVLSGVSCFVMFLCLADYLVPILAPRIFGSNKWTTEQQQRFHEICSNLVKTRRRAVGWWKRLFTLKEEKPKMYFMTMIVSLAAVAWVGQQVHNLLLTYLIVTSLLLLPGLNQHGIILKYIGMAKREINKLLKQKEKKNE
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 61, autosomal recessive (SPG61) [MIM:615685]: A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q9JKW0, ECO:0000269|PubMed:12754298, ECO:0000269|PubMed:24262037, ECO:0000303|PubMed:10995579}.
uniprot
proteins
mass_dalton
23363
uniprot
proteins
protein_family
ARL6ip family
uniprot
proteins
pubmed
10995579
uniprot
proteins
pubmed
12754298
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
24076029
uniprot
proteins
pubmed
24262037
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
25612671
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
7584044
uniprot
proteins
sequence_length
203
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:10995579}; Multi-pass membrane protein {ECO:0000269|PubMed:10995579}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:12754298, ECO:0000269|PubMed:24076029, ECO:0000269|PubMed:24262037}; Multi-pass membrane protein {ECO:0000269|PubMed:24076029}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q9JKW0}. Note=Predominantly localized to intracytoplasmic membranes. Preferentially localizes at the ER tubules and the edge of the ER sheets, both of which are characterized by a high membrane curvature. {ECO:0000269|PubMed:24262037}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 66..86; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 134..175; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins