Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79572
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase 13A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP13A3
Synonyms (NCBI Gene) Gene synonyms aliases
AFURS1, PPH5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez Gene.
ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016221 hsa-miR-590-3p Sequencing 20371350
MIRT023239 hsa-miR-122-5p Microarray 17612493
MIRT027039 hsa-miR-103a-3p Sequencing 20371350
MIRT027500 hsa-miR-98-5p Microarray 19088304
MIRT031517 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005768 Component Endosome IEA
GO:0006874 Process Intracellular calcium ion homeostasis IBA
GO:0015203 Function Polyamine transmembrane transporter activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610232 24113 ENSG00000133657
Protein
UniProt ID Q9H7F0
Protein name Polyamine-transporting ATPase 13A3 (ATPase family homolog up-regulated in senescence cells 1) (Putrescine transporting ATPase) (EC 7.6.2.16)
Protein 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:333107
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12409 P5-ATPase 13 150 P5-type ATPase cation transporter Family
PF00690 Cation_ATPase_N 166 226 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 265 476 Family
PF00702 Hydrolase 492 788 Domain
PF00689 Cation_ATPase_C 960 1167 Cation transporting ATPase, C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:29505581}.
Sequence
MDREERKTINQGQEDEMEIYGYNLSRWKLAIVSLGVICSGGFLLLLLYWMPEWRVKATCV
RAAIKDCEVVLLRTTDEFKMWFCAKIRVLSLETYPVSSPKSMSNKLSNGHAVCLIENPTE
ENRHRISKYSQTESQQIRYFTHHSVKYFWN
DTIHNFDFLKGLDEGVSCTSIYEKHSAGLT
KGMHAYRKLLYGVNEIAVKVPSVFKLLIKEVLNPFYIFQLFSVILW
STDEYYYYALAIVV
MSIVSIVSSLYSIRKQYVMLHDMVATHSTVRVSVCRVNEEIEEIFSTDLVPGDVMVIPLN
GTIMPCDAVLINGTCIVNESMLTGESVPVTKTNLPNPSVDVKGIGDELYNPETHKRHTLF
CGTTVIQTRFYTGELVKAIVVRTGFSTSKGQLVRSILYPKPTDFKLYRDAYLFLLCLVAV
AGIGFIYTIINSILNEVQVGVIIIESLDIITITVPPALPAAMTAGIVYAQRRLKKI
GIFC
ISPQRINICGQLNLVCFDKTGTLTEDGLDLWGIQRVENARFLSPEENVCNEMLVKSQFVA
CMATCHSLTKIEGVLSGDPLDLKMFEAIGWILEEATEEETALHNRIMPTVVRPPKQLLPE
STPAGNQEMELFELPATYEIGIVRQFPFSSALQRMSVVARVLGDRKMDAYMKGAPEAIAG
LCKPETVPVDFQNVLEDFTKQGFRVIALAHRKLESKLTWHKVQNISRDAIENNMDFMGLI
IMQNKLKQETPAVLEDLHKANIRTVMVTGDSMLTAVSVARDCGMILPQDKVIIAEALPPK
DGKVAKIN
WHYADSLTQCSHPSAIDPEAIPVKLVHDSLEDLQMTRYHFAMNGKSFSVILE
HFQDLVPKLMLHGTVFARMAPDQKTQLIEALQNVDYFVGMCGDGANDCGALKRAHGGISL
SELEASVASPFTSKTPSISCVPNLIREGRAALITSFCVFKFMALYSIIQYFSVTLLYSIL
SNLGDFQFLFIDLAIILVVVFTMSLNPAWKELVAQRPPSGLISGALLFSVLSQIIICIGF
QSLGFFWVKQQPWYEVWHPKSDACNTTGSGFWNSSHVDNETELDEHNIQNYENTTVFFIS
SFQYLIVAIAFSKGKPFRQPCYKNYFFVFSVIFLYIFILFIMLYPVASVDQVLQIVCVPY
QWRVTMLIIVLVNAFVSITVEESVDRW
GKCCLPWALGCRKKTPKAKYMYLAQELLVDPEW
PPKPQTTTEAKALVKENGSCQIITIT
Sequence length 1226
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pulmonary arterial hypertension pulmonary arterial hypertension N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
COVID 19 Associate 33936072
Familial Primary Pulmonary Hypertension Associate 30679663
Head and Neck Neoplasms Associate 33091845
Neoplasms Associate 33091845, 35088879
Parkinson Disease Associate 33818904
Pulmonary Arterial Hypertension Associate 29650961, 33187088, 34493544, 35346192
Pulmonary Veno Occlusive Disease Associate 30679663
Squamous Cell Carcinoma of Head and Neck Associate 33091845
Thyroid Neoplasms Associate 37932340