ARL6IP1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARL6IP1 (HGNC:697) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ADP ribosylation factor like GTPase 6 interacting protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ARL6IP
Alias symbols
AIP1, ARMER, KIAA0069, SPG61
%HI
17.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.51(Read more about gnomAD pLI score)
LOEUF
0.68(Read more about gnomAD LOEUF score)
Cytoband
16p12.3
Genomic Coordinates
GRCh37/hg19: chr16:18802989-18812871 NCBI Ensembl UCSC
GRCh38/hg38: chr16:18791667-18801549 NCBI Ensembl UCSC
MANE Select Transcript
NM_015161.3 ENST00000304414.12 (Read more about MANE Select)
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 casp... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15737
ClinGen Curation ID:
CCID:006691
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary spastic paraplegia 61 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)