ATP10A |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ATP10A (HGNC:13542) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATPase phospholipid transporting 10A (putative)
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ATP10C
- Alias symbols
- ATPVA, ATPVC, KIAA0566
- %HI
- 68.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.43(Read more about gnomAD LOEUF score)
- Cytoband
- 15q12
- Genomic Coordinates
-
GRCh37/hg19: chr15:25923859-26108349 NCBI Ensembl UCSC GRCh38/hg38: chr15:25672237-25865088 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024490.4 ENST00000555815.7 (Read more about MANE Select)
- Function
- Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane (PubMed:25947375, PubMed:29599178, PubMed:30530492). Initiates inward plasma membrane bending and recruitment of Bin/amphiphysin/Rvs (BAR) domain-containing proteins involved in membrane tubulation and cell trafficking (PubMed:29599178). Facilitates ITGB1/beta1 integrin endocytosis, delaying cell a... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7934
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/25/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:18925931 Cai et al. (2008) identified a de novo 1 Mb duplication including ATP10A and GABRB3 using MLPA probes in a proband with autism. This gain was not detected in an affected sibling.
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)