Gene Gene information from NCBI Gene database.
Entrez ID 79572
Gene name ATPase 13A3
Gene symbol ATP13A3
Synonyms (NCBI Gene)
AFURS1PPH5
Chromosome 3
Chromosome location 3q29
Summary 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.
860
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610232 24113 ENSG00000133657
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pulmonary arterial hypertension Pathogenic; Likely pathogenic rs746602775, rs1489314131, rs1560082927, rs2108829926 RCV001807427
RCV001807424
RCV001807425
RCV001807426
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 5 Pathogenic; Likely pathogenic rs746602775, rs1489314131, rs1560082927, rs2108829926 RCV002246429
RCV002246426
RCV002246427
RCV002246428
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATP13A3-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Carcinoma BEFREE 22987659
★☆☆☆☆
Found in Text Mining only
Familial primary pulmonary hypertension Pulmonary Hypertension GENOMICS_ENGLAND_DG 30545973
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension Pulmonary hypertension Pubtator 30679663 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms Head and neck neoplasm Pubtator 33091845 Associate
★☆☆☆☆
Found in Text Mining only
Idiopathic pulmonary arterial hypertension Pulmonary arterial hypertension BEFREE 29650961
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 33818904 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Arterial Hypertension Pulmonary arterial hypertension Pubtator 29650961, 33187088, 34493544, 35346192 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 33091845 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasms Thyroid cancer Pubtator 37932340 Associate
★☆☆☆☆
Found in Text Mining only