ATP13A3
entrez
79572
canonical
uniprot
Q9H7F0
canonical
ensembl
ENSG00000133657
resolver
ensp
ENSP00000416508
resolver
ensp
ENSP00000493923
resolver
ensp
ENSP00000494471
resolver
ensp
ENSP00000494937
resolver
ensp
ENSP00000527031
resolver
ensp
ENSP00000527032
resolver
ensp
ENSP00000527033
resolver
ensp
ENSP00000527034
resolver
ensp
ENSP00000590271
resolver
ensp
ENSP00000590273
resolver
ensp
ENSP00000590274
resolver
ensp
ENSP00000590277
resolver
ensp
ENSP00000633920
resolver
ensp
ENSP00000633923
resolver
ensp
ENSP00000786291
resolver
enst
ENST00000645319
resolver
enst
ENST00000856972
resolver
enst
ENST00000856973
resolver
enst
ENST00000856974
resolver
enst
ENST00000856975
resolver
enst
ENST00000920215
resolver
enst
ENST00000920218
resolver
enst
ENST00000963861
resolver
genesymbol
ATP13A3
resolver
genesymbol_syn
AFURS1
resolver
hgnc
HGNC:24113
resolver
uniprot
A0A2R8Y635
resolver
uniprot
Q8NC11
resolver
uniprot
Q96KS1
resolver
uniprot_entry
A0A2R8Y635_HUMAN
resolver
uniprot_entry
AT133_HUMAN
resolver
uniprot_sec
Q8NC11
resolver
uniprot_sec
Q96KS1
resolver
amino_acid_sequence
MDREERKTINQGQEDEMEIYGYNLSRWKLAIVSLGVICSGGFLLLLLYWMPEWRVKATCVRAAIKDCEVVLLRTTDEFKMWFCAKIRVLSLETYPVSSPKSMSNKLSNGHAVCLIENPTEENRHRISKYSQTESQQIRYFTHHSVKYFWNDTIHNFDFLKGLDEGVSCTSIYEKHSAGLTKGMHAYRKLLYGVNEIAVKVPSVFKLLIKEVLNPFYIFQLFSVILWSTDEYYYYALAIVVMSIVSIVSSLYSIRKQYVMLHDMVATHSTVRVSVCRVNEEIEEIFSTDLVPGDVMVIPLNGTIMPCDAVLINGTCIVNESMLTGESVPVTKTNLPNPSVDVKGIGDELYNPETHKRHTLFCGTTVIQTRFYTGELVKAIVVRTGFSTSKGQLVRSILYPKPTDFKLYRDAYLFLLCLVAVAGIGFIYTIINSILNEVQVGVIIIESLDIITITVPPALPAAMTAGIVYAQRRLKKIGIFCISPQRINICGQLNLVCFDKTGTLTEDGLDLWGIQRVENARFLSPEENVCNEMLVKSQFVACMATCHSLTKIEGVLSGDPLDLKMFEAIGWILEEATEEETALHNRIMPTVVRPPKQLLPESTPAGNQEMELFELPATYEIGIVRQFPFSSALQRMSVVARVLGDRKMDAYMKGAPEAIAGLCKPETVPVDFQNVLEDFTKQGFRVIALAHRKLESKLTWHKVQNISRDAIENNMDFMGLIIMQNKLKQETPAVLEDLHKANIRTVMVTGDSMLTAVSVARDCGMILPQDKVIIAEALPPKDGKVAKINWHYADSLTQCSHPSAIDPEAIPVKLVHDSLEDLQMTRYHFAMNGKSFSVILEHFQDLVPKLMLHGTVFARMAPDQKTQLIEALQNVDYFVGMCGDGANDCGALKRAHGGISLSELEASVASPFTSKTPSISCVPNLIREGRAALITSFCVFKFMALYSIIQYFSVTLLYSILSNLGDFQFLFIDLAIILVVVFTMSLNPAWKELVAQRPPSGLISGALLFSVLSQIIICIGFQSLGFFWVKQQPWYEVWHPKSDACNTTGSGFWNSSHVDNETELDEHNIQNYENTTVFFISSFQYLIVAIAFSKGKPFRQPCYKNYFFVFSVIFLYIFILFIMLYPVASVDQVLQIVCVPYQWRVTMLIIVLVNAFVSITVEESVDRWGKCCLPWALGCRKKTPKAKYMYLAQELLVDPEWPPKPQTTTEAKALVKENGSCQIITIT
uniprot
proteins
disease_involvement
DISEASE: Pulmonary hypertension, primary, 5 (PPH5) [MIM:265400]: A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common. {ECO:0000269|PubMed:30679663, ECO:0000269|PubMed:34493544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.16
uniprot
proteins
function
FUNCTION: ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol. {ECO:0000269|PubMed:27429841, ECO:0000269|PubMed:33310703}.
uniprot
proteins
mass_dalton
138043
uniprot
proteins
mutagenesis
MUTAGEN 498; /note="D->N: Impairs the transport activity."; /evidence="ECO:0000269|PubMed:33310703
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type V subfamily
uniprot
proteins
pubmed
11867234
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27429841
uniprot
proteins
pubmed
29505581
uniprot
proteins
pubmed
30679663
uniprot
proteins
pubmed
33310703
uniprot
proteins
pubmed
34493544
uniprot
proteins
sequence_length
1226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:29505581}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:29505581}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:29505581}; Multi-pass membrane protein {ECO:0000255}. Note=Mainly targeted to the recycling endosomes and to a lesser extent to the early and late endosomes. {ECO:0000269|PubMed:29505581}.
uniprot
proteins
transmembrane_region
TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 233..253; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 410..430; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 449..469; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 941..961; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 963..983; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1000..1020; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1074..1094; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1106..1126; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1144..1164; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins