Seroatlas · Human Serome Atlas

ATP13A3

Polyamine-transporting ATPase 13A3

Also known as: AFURS1, AT133_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H7F0
Gene: ATP13A3
Ensembl: ENSG00000133657
Chromosome: 3
Canonical length: 1226 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins
Subcellular location: Nucleoli,Plasma membrane,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1226 residues, UniProt reviewed canonical sequence.

>Q9H7F0|ATP13A3
     1  MDREERKTIN QGQEDEMEIY GYNLSRWKLA IVSLGVICSG GFLLLLLYWM PEWRVKATCV
    61  RAAIKDCEVV LLRTTDEFKM WFCAKIRVLS LETYPVSSPK SMSNKLSNGH AVCLIENPTE
   121  ENRHRISKYS QTESQQIRYF THHSVKYFWN DTIHNFDFLK GLDEGVSCTS IYEKHSAGLT
   181  KGMHAYRKLL YGVNEIAVKV PSVFKLLIKE VLNPFYIFQL FSVILWSTDE YYYYALAIVV
   241  MSIVSIVSSL YSIRKQYVML HDMVATHSTV RVSVCRVNEE IEEIFSTDLV PGDVMVIPLN
   301  GTIMPCDAVL INGTCIVNES MLTGESVPVT KTNLPNPSVD VKGIGDELYN PETHKRHTLF
   361  CGTTVIQTRF YTGELVKAIV VRTGFSTSKG QLVRSILYPK PTDFKLYRDA YLFLLCLVAV
   421  AGIGFIYTII NSILNEVQVG VIIIESLDII TITVPPALPA AMTAGIVYAQ RRLKKIGIFC
   481  ISPQRINICG QLNLVCFDKT GTLTEDGLDL WGIQRVENAR FLSPEENVCN EMLVKSQFVA
   541  CMATCHSLTK IEGVLSGDPL DLKMFEAIGW ILEEATEEET ALHNRIMPTV VRPPKQLLPE
   601  STPAGNQEME LFELPATYEI GIVRQFPFSS ALQRMSVVAR VLGDRKMDAY MKGAPEAIAG
   661  LCKPETVPVD FQNVLEDFTK QGFRVIALAH RKLESKLTWH KVQNISRDAI ENNMDFMGLI
   721  IMQNKLKQET PAVLEDLHKA NIRTVMVTGD SMLTAVSVAR DCGMILPQDK VIIAEALPPK
   781  DGKVAKINWH YADSLTQCSH PSAIDPEAIP VKLVHDSLED LQMTRYHFAM NGKSFSVILE
   841  HFQDLVPKLM LHGTVFARMA PDQKTQLIEA LQNVDYFVGM CGDGANDCGA LKRAHGGISL
   901  SELEASVASP FTSKTPSISC VPNLIREGRA ALITSFCVFK FMALYSIIQY FSVTLLYSIL
   961  SNLGDFQFLF IDLAIILVVV FTMSLNPAWK ELVAQRPPSG LISGALLFSV LSQIIICIGF
  1021  QSLGFFWVKQ QPWYEVWHPK SDACNTTGSG FWNSSHVDNE TELDEHNIQN YENTTVFFIS
  1081  SFQYLIVAIA FSKGKPFRQP CYKNYFFVFS VIFLYIFILF IMLYPVASVD QVLQIVCVPY
  1141  QWRVTMLIIV LVNAFVSITV EESVDRWGKC CLPWALGCRK KTPKAKYMYL AQELLVDPEW
  1201  PPKPQTTTEA KALVKENGSC QIITIT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP13A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

liver: 41 nTPM
parathyroid gland: 35 nTPM
thyroid gland: 34 nTPM
heart muscle: 29 nTPM
placenta: 28 nTPM
urinary bladder: 24 nTPM

Single-cell type

neutrophils: 2,083 nCPM
monocytes: 1,057 nCPM
endometrial glandular cells: 981 nCPM
endometrial luminal cells: 590 nCPM
cdc: 569 nCPM
macrophages: 395 nCPM

Immune cell

eosinophil: 0.3 nTPM
NK-cell: 0.3 nTPM
gdT-cell: 0.1 nTPM
MAIT T-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM

Brain region

choroid plexus: 35 nTPM
cerebral cortex: 33 nTPM
thalamus: 25 nTPM
cerebellum: 20 nTPM
hippocampal formation: 17 nTPM
white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP13A3.

Disease | AllUniProt

Conditions ATP13A3 is implicated in, by any mechanism.

Pulmonary hypertension, primary, 5 (PPH5) MIM:265400

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pulmonary arterial hypertension
Pulmonary hypertension, primary, 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.22
gnomAD pLI: 1
gnomAD missense Z: 3.01
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ATP binding
ATP hydrolysis activity
ATPase-coupled monoatomic cation transmembrane transporter activity
metal ion binding
P-type ion transporter activity
polyamine transmembrane transporter activity
ABC-type putrescine transporter activity
P-type transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP13A3 as an antibody target. Whether an autoantibody or antibody against ATP13A3 could matter depends on whether native ATP13A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP13A3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATP13A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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