Aliases for ARL6IP1 Gene
External Ids for ARL6IP1 Gene
Previous HGNC Symbols for ARL6IP1 Gene
Previous GeneCards Identifiers for ARL6IP1 Gene
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]
GeneCards Summary for ARL6IP1 Gene
ARL6IP1 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1) is a Protein Coding gene. Diseases associated with ARL6IP1 include Spastic Paraplegia 61, Autosomal Recessive. An important paralog of this gene is ENSG00000260342.
UniProtKB/Swiss-Prot for ARL6IP1 Gene
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).