ARL6IP1 (ARL6 interacting reticulophagy regulator 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23204
Gene name Gene Name - the full gene name approved by the HGNC.
ARL6 interacting reticulophagy regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARL6IP1
Synonyms (NCBI Gene) Gene synonyms aliases
AIP1, ARL6IP, ARMER, SPG61
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.3
Summary Summary of gene provided in NCBI Entrez 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 tr
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs750623911 G>A,C,T Pathogenic Missense variant, synonymous variant, stop gained, coding sequence variant
rs879255572 GTTT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1170)
miRTarBase ID miRNA Experiments Reference
MIRT020234 hsa-miR-130b-3p Sequencing 20371350
MIRT021699 hsa-miR-133a-3p Microarray 21396852
MIRT028699 hsa-miR-27a-3p Sequencing 20371350
MIRT031123 hsa-miR-19b-3p Sequencing 20371350
MIRT052297 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0002038 Process Positive regulation of L-glutamate import across plasma membrane IEA
GO:0002038 Process Positive regulation of L-glutamate import across plasma membrane ISS
GO:0005515 Function Protein binding IPI 16189514, 19060904, 21516116, 24262037, 25416956, 25612671, 25910212, 26871637, 29892012, 31515488, 32296183, 33961781, 36217029
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607669 697 ENSG00000170540
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q15041
Protein name ADP-ribosylation factor-like protein 6-interacting protein 1 (ARL-6-interacting protein 1) (Aip-1) (Apoptotic regulator in the membrane of the endoplasmic reticulum)
Protein 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 ne
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in all hematopoietic cell lineages, but the highest level of expression is found in early myeloid progenitor cells. Expressed in brain, bone marrow, thymus and lung. Expressed at low level in liver, kidney and spleen. Not det
Sequence 
MAEGDNRSTNLLAAETASLEEQLQGWGEVMLMADKVLRWERAWFPPAIMGVVSLVFLIIY
YLDPSVLSGVSCFVMFLCLADYLVPILAPRIFGSNKWTTEQQQRFHEICSNLVKTRRRAV
GWWKRLFTLKEEKPKMYFMTMIVSLAAVAWVGQQVHNLLLTYLIVTSLLLLPGLNQHGII
LKYIGMAKREINKLLKQKEKKNE
Sequence length 203
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 61 rs879255572, rs767874638, rs750623911 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 39252332
Atherosclerosis Associate 35795669
Breast Neoplasms Associate 35779338
Coronary Artery Disease Associate 35795669
Spastic Paraplegia Hereditary Associate 31272422