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FLASH GENE

Symbol

ATP10A

contributors: mct - updated : 29-06-2021

HGNC name	ATPase, Class V, type 10A
HGNC id	13542

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AS Angelman syndrome
Location	15q12      Physical location : 25.923.861 - 26.108.349
Synonym name	aminophospholipid-transporting ATPASE gene
	ATPase, Class V, type 10C
	ATPase type IV, phospholipid transporting (p-type)
	aminophospholipid translocase
Synonym symbol(s)	ATPVC, KIAA0566, AT5C, PFATP, ATP10C, ATPVA
EC.number	3.6.3.1/7.6.2.1

DNA

TYPE	functioning gene
STRUCTURE	192.90 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	putative promoter region containing a strong CpG island
	5' untranslated regions having potential binding sites for multiple transcription factors, including Sp1, USF, AP1, and AP2, involved in adipogenesis and adipocyte metabolism

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - MKRN3 - NDN - MAGEL2 - SNURF /SNRPN /IPW - UBE3A - NDNL2 - ATP10A - D15S986 - GABRB3 - GABRA5 - GABRG3 - D15S156 - OCA2 OCA2 - APBA2 - qter
Authors	Laura (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024490 21 - 5360 NP_077816 - 1499 - 2015 25947375

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis     specific Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, skin

IMPRINTING	paternally
text	imprinted in brain (monoallelic expressionis variable, and influenced by both gender and common genetic variation)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

three highly conserved motifs diagnostic of the type 4 subfamily of P-type ATPases

HOMOLOGY

interspecies	ortholog to murine Atp10a
	ortholog to rattus Atp10a predicted

Homologene

FAMILY	cation transport ATPase family
	class V of the third subfamily of P-type ATPases

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	integral to membrane

basic FUNCTION	aminophospholipid and calcium transporting gene
	may contribute to the Angelman syndrome phenotype
	translocates phosphatidylcholine and is involved in plasma membrane dynamics

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	cation transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP
	Mg2+

protein	ATP8B1, ATP8B2, and ATP10A transport phosphatidylcholine but not aminophospholipids
	ATP10A is delivered to the plasma membrane via its interaction with TMEM30A and, specifically, flips phosphatidylcholine (PC) at the plasma membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     included in PWS/AS typically deleted region, maternally expressed gene constitutional     --other   dysregulation contributes to some of the obesity-related complications in PWS and in individuals with 15q11-q13 duplication constitutional     --over   in Hereditary spastic paraplegias (HSPs) with intellectual disability (ID)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice