AIMP1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AIMP1 (HGNC:10648) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- aminoacyl tRNA synthetase complex interacting multifunctional protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SCYE1
- Alias symbols
- EMAPII, EMAP-2, p43
- %HI
- 22.3(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.22(Read more about gnomAD LOEUF score)
- Cytoband
- 4q24
- Genomic Coordinates
-
GRCh37/hg19: chr4:107236701-107270613 NCBI Ensembl UCSC GRCh38/hg38: chr4:106315544-106349456 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001142416.2 ENST00000672341.1 (Read more about MANE Select)
- Function
- Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7- mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19181
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hypomyelinating leukodystrophy 3 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)