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ATP13A3 ATPase 13A3 [ Homo sapiens (human) ]

Gene ID: 79572, updated on 2-Nov-2024

Summary

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Official Symbol
ATP13A3provided by HGNC
Official Full Name
ATPase 13A3provided by HGNC
Primary source
HGNC:HGNC:24113
See related
Ensembl:ENSG00000133657 MIM:610232; AllianceGenome:HGNC:24113
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPH5; AFURS1
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]
Expression
Ubiquitous expression in thyroid (RPKM 24.7), appendix (RPKM 18.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ATP13A3 in Genome Data Viewer
Location:
3q29
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194402677..194494334, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197101099..197192872, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194123406..194207731, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194089931-194090895 Neighboring gene leucine rich repeat containing 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194120825-194121378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194121379-194121931 Neighboring gene glycoprotein V platelet Neighboring gene MPRA-validated peak4979 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194167532-194168731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194170227-194171426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21026 Neighboring gene ATP13A3 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194218672-194219871 Neighboring gene Sharpr-MPRA regulatory region 12272 Neighboring gene Sharpr-MPRA regulatory regions 5224 and 9858 Neighboring gene RNA, U6 small nuclear 1101, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21027 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194274365-194274563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194276967-194277466 Neighboring gene ribosomal protein L23a pseudogene 93

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning the AFURS1 gene which is up-regulated in senescent human parenchymal kidney cells. Habtemichael N, et al. Gene, 2002 Jan 23. PMID 11867234
  2. Pairing a prognostic target with potential therapeutic strategy for head and neck cancer. Lek SM, et al. Oral Oncol, 2020 Dec. PMID 33091845
  3. ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport. Liu B, et al. Cardiovasc Res, 2024 May 29. PMID 38626311, Free PMC Article
  4. ATP13A3 is a major component of the enigmatic mammalian polyamine transport system. Hamouda NN, et al. J Biol Chem, 2021 Jan-Jun. PMID 33310703, Free PMC Article
  5. A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. Barozzi C, et al. Sci Rep, 2019 Jan 24. PMID 30679663, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.
    Title: ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.
  2. Pairing a prognostic target with potential therapeutic strategy for head and neck cancer.
    Title: Pairing a prognostic target with potential therapeutic strategy for head and neck cancer.
  3. In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns
    Title: A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
  4. Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in heritable pulmonary arterial hypertension.
    Title: Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
  5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pulmonary hypertension, primary, autosomal recessive
MedGen: C5676877 OMIM: 265400 GeneReviews: Not available
Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of ATP13A3 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ90613, DKFZp686K16189

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type putrescine transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATPase-coupled monoatomic cation transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables P-type ion transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables P-type transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables polyamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in polyamine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in putrescine transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in early endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polyamine-transporting ATPase 13A3
Names
ATPase family homolog up-regulated in senescence cells 1
ATPase type 13A3
probable cation-transporting ATPase 13A3
putrescine transporting ATPase
NP_001354478.1
NP_001361765.1
NP_078800.3
XP_005269414.1
XP_011511423.1
XP_011511425.1
XP_011511426.1
XP_047304860.1
XP_047304861.1
XP_047304862.1
XP_047304863.1
XP_047304864.1
XP_047304865.1
XP_047304866.1
XP_047304867.1
XP_047304868.1
XP_047304869.1
XP_047304870.1
XP_047304871.1
XP_047304872.1
XP_054203818.1
XP_054203819.1
XP_054203820.1
XP_054203821.1
XP_054203822.1
XP_054203823.1
XP_054203824.1
XP_054203825.1
XP_054203826.1
XP_054203827.1
XP_054203828.1
XP_054203829.1
XP_054203830.1
XP_054203831.1
XP_054203832.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367549.1 → NP_001354478.1  polyamine-transporting ATPase 13A3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC108676, AC125362
    Consensus CDS
    CCDS93438.1
    UniProtKB/TrEMBL
    A0A2R8Y635, A0A2R8YDN7
    Related
    ENSP00000494937.2, ENST00000645319.2

  2. NM_001374836.1 → NP_001361765.1  polyamine-transporting ATPase 13A3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108676, AC125362
    UniProtKB/TrEMBL
    A0A2R8YDN7
    Conserved Domains (1) summary
    TIGR01657
    Location:14 → 1122
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)

  3. NM_024524.4 → NP_078800.3  polyamine-transporting ATPase 13A3 isoform 1

    See identical proteins and their annotated locations for NP_078800.3

    Status: VALIDATED

    Source sequence(s)
    AC108676, AK075094, AK225064, BC106085, BP313821, DA852339, DR005713, DV080200
    Consensus CDS
    CCDS43187.1
    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0
    UniProtKB/TrEMBL
    A0A2R8YDN7
    Related
    ENSP00000416508.1, ENST00000439040.6
    Conserved Domains (6) summary
    TIGR01657
    Location:14 → 1149
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:236 → 483
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:178 → 226
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:13 → 145
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622 → 662
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:821 → 898
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. NR_164666.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC108676, AC125362

  2. NR_164667.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC108676, AC125362

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194402677..194494334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448912.1 → XP_047304868.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0
    Related
    ENST00000687055.1

  2. XM_047448909.1 → XP_047304865.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  3. XM_047448904.1 → XP_047304860.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  4. XM_047448910.1 → XP_047304866.1  polyamine-transporting ATPase 13A3 isoform X2

    Related
    ENST00000690810.1

  5. XM_047448913.1 → XP_047304869.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0
    Related
    ENSP00000493923.2, ENST00000642744.2

  6. XM_047448916.1 → XP_047304872.1  polyamine-transporting ATPase 13A3 isoform X5

  7. XM_011513123.3 → XP_011511425.1  polyamine-transporting ATPase 13A3 isoform X3

    See identical proteins and their annotated locations for XP_011511425.1

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0
    UniProtKB/TrEMBL
    A0A2R8YDN7
    Related
    ENSP00000494471.1, ENST00000645538.1
    Conserved Domains (6) summary
    TIGR01657
    Location:14 → 1149
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:236 → 483
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:178 → 226
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:13 → 145
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622 → 662
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:821 → 898
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  8. XM_047448911.1 → XP_047304867.1  polyamine-transporting ATPase 13A3 isoform X2

  9. XM_047448914.1 → XP_047304870.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  10. XM_047448906.1 → XP_047304862.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  11. XM_047448915.1 → XP_047304871.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  12. XM_047448905.1 → XP_047304861.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  13. XM_047448907.1 → XP_047304863.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  14. XM_047448908.1 → XP_047304864.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  15. XM_005269357.4 → XP_005269414.1  polyamine-transporting ATPase 13A3 isoform X1

    See identical proteins and their annotated locations for XP_005269414.1

    UniProtKB/TrEMBL
    A0A2R8Y635, A0A2R8YDN7
    Conserved Domains (6) summary
    TIGR01657
    Location:14 → 1149
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:236 → 483
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:178 → 226
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:13 → 145
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622 → 662
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:821 → 898
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  16. XM_011513121.2 → XP_011511423.1  polyamine-transporting ATPase 13A3 isoform X1

    See identical proteins and their annotated locations for XP_011511423.1

    UniProtKB/TrEMBL
    A0A2R8Y635, A0A2R8YDN7
    Conserved Domains (6) summary
    TIGR01657
    Location:14 → 1149
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:236 → 483
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:178 → 226
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:13 → 145
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622 → 662
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:821 → 898
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  17. XM_011513124.4 → XP_011511426.1  polyamine-transporting ATPase 13A3 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YDN7
    Conserved Domains (6) summary
    TIGR01657
    Location:14 → 1149
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:236 → 483
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:178 → 226
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:13 → 145
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622 → 662
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:821 → 898
    HAD_like; Haloacid Dehalogenase-like Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197101099..197192872 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347852.1 → XP_054203827.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  2. XM_054347843.1 → XP_054203818.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  3. XM_054347849.1 → XP_054203824.1  polyamine-transporting ATPase 13A3 isoform X2

  4. XM_054347853.1 → XP_054203828.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  5. XM_054347857.1 → XP_054203832.1  polyamine-transporting ATPase 13A3 isoform X5

  6. XM_054347851.1 → XP_054203826.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  7. XM_054347850.1 → XP_054203825.1  polyamine-transporting ATPase 13A3 isoform X2

  8. XM_054347854.1 → XP_054203829.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  9. XM_054347845.1 → XP_054203820.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  10. XM_054347855.1 → XP_054203830.1  polyamine-transporting ATPase 13A3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NC11, Q96KS1, Q9H7F0

  11. XM_054347844.1 → XP_054203819.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  12. XM_054347846.1 → XP_054203821.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  13. XM_054347847.1 → XP_054203822.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  14. XM_054347848.1 → XP_054203823.1  polyamine-transporting ATPase 13A3 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y635

  15. XM_054347856.1 → XP_054203831.1  polyamine-transporting ATPase 13A3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H7F0.4 GenPept UniProtKB/Swiss-Prot:Q9H7F0

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