ARL6IP1 (ARL6 interacting reticulophagy regulator 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23204
Gene name ARL6 interacting reticulophagy regulator 1
Gene symbol ARL6IP1
Synonyms (NCBI Gene)
AIP1ARL6IPARMERSPG61
Chromosome 16
Chromosome location 16p12.3
Summary 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.
2
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.
1170
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607669 697 ENSG00000170540
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARL6IP1-related disorder Pathogenic rs750623911 RCV004758727
Hereditary spastic paraplegia 61 Likely pathogenic; Pathogenic rs879255572, rs1428321490, rs2506673023, rs767874638, rs750623911 RCV000087332
RCV003882750
RCV003882751
RCV000544624
RCV002533839
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Likely benign rs187822079 RCV005900314
Familial cancer of breast Likely benign rs372011897 RCV005927023
Gastric cancer Likely benign rs372011897 RCV005927024
Uterine corpus endometrial carcinoma Likely benign rs187822079 RCV005900315
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease 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