ATP11A
Phospholipid-transporting ATPase IH
Also known as: AT11A_HUMAN, ATPIH, ATPIS, KIAA1021
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P98196
- Gene
- ATP11A
- Ensembl
- ENSG00000068650
- Chromosome
- 13
- Canonical length
- 1134 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Golgi apparatus,Vesicles
OverviewNCBI Gene
The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]
Canonical amino-acid sequenceUniProt
1134 residues, UniProt reviewed canonical sequence.
>P98196|ATP11A
1 MDCSLVRTLV HRYCAGEENW VDSRTIYVGH REPPPGAEAY IPQRYPDNRI VSSKYTFWNF
61 IPKNLFEQFR RVANFYFLII FLVQLIIDTP TSPVTSGLPL FFVITVTAIK QGYEDWLRHK
121 ADNAMNQCPV HFIQHGKLVR KQSRKLRVGD IVMVKEDETF PCDLIFLSSN RGDGTCHVTT
181 ASLDGESSHK THYAVQDTKG FHTEEDIGGL HATIECEQPQ PDLYKFVGRI NVYSDLNDPV
241 VRPLGSENLL LRGATLKNTE KIFGVAIYTG METKMALNYQ SKSQKRSAVE KSMNAFLIVY
301 LCILISKALI NTVLKYMWQS EPFRDEPWYN QKTESERQRN LFLKAFTDFL AFMVLFNYII
361 PVSMYVTVEM QKFLGSYFIT WDEDMFDEET GEGPLVNTSD LNEELGQVEY IFTDKTGTLT
421 ENNMEFKECC IEGHVYVPHV ICNGQVLPES SGIDMIDSSP SVNGREREEL FFRALCLCHT
481 VQVKDDDSVD GPRKSPDGGK SCVYISSSPD EVALVEGVQR LGFTYLRLKD NYMEILNREN
541 HIERFELLEI LSFDSVRRRM SVIVKSATGE IYLFCKGADS SIFPRVIEGK VDQIRARVER
601 NAVEGLRTLC VAYKRLIQEE YEGICKLLQA AKVALQDREK KLAEAYEQIE KDLTLLGATA
661 VEDRLQEKAA DTIEALQKAG IKVWVLTGDK METAAATCYA CKLFRRNTQL LELTTKRIEE
721 QSLHDVLFEL SKTVLRHSGS LTRDNLSGLS ADMQDYGLII DGAALSLIMK PREDGSSGNY
781 RELFLEICRS CSAVLCCRMA PLQKAQIVKL IKFSKEHPIT LAIGDGANDV SMILEAHVGI
841 GVIGKEGRQA ARNSDYAIPK FKHLKKMLLV HGHFYYIRIS ELVQYFFYKN VCFIFPQFLY
901 QFFCGFSQQT LYDTAYLTLY NISFTSLPIL LYSLMEQHVG IDVLKRDPTL YRDVAKNALL
961 RWRVFIYWTL LGLFDALVFF FGAYFVFENT TVTSNGQIFG NWTFGTLVFT VMVFTVTLKL
1021 ALDTHYWTWI NHFVIWGSLL FYVVFSLLWG GVIWPFLNYQ RMYYVFIQML SSGPAWLAIV
1081 LLVTISLLPD VLKKVLCRQL WPTATERVQT KSQCLSVEQS TIFMLSQTSS SLSFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATP11A 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 10
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- lung: 38 nTPM
- parathyroid gland: 22 nTPM
- heart muscle: 20 nTPM
- tongue: 16 nTPM
- bone marrow: 16 nTPM
- spinal cord: 16 nTPM
Single-cell type
- endometrial glandular cells: 1,768 nCPM
- endometrial luminal cells: 1,207 nCPM
- somatotrophs: 1,157 nCPM
- alveolar cells type 2: 1,065 nCPM
- alveolar cells type 1: 870 nCPM
- transitional alveolar cells: 713 nCPM
Immune cell
- neutrophil: 3.1 nTPM
- eosinophil: 1.8 nTPM
- intermediate monocyte: 1.6 nTPM
- naive B-cell: 1.6 nTPM
- non-classical monocyte: 1.5 nTPM
- classical monocyte: 1.1 nTPM
Brain region
- white matter: 95 nTPM
- medulla oblongata: 69 nTPM
- midbrain: 61 nTPM
- thalamus: 60 nTPM
- basal ganglia: 60 nTPM
- pons: 56 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ATP11A.
Disease | AllUniProt
Conditions ATP11A is implicated in, by any mechanism.
- Deafness, autosomal dominant, 84 (DFNA84) MIM:619810
- Leukodystrophy, hypomyelinating, 24 (HLD24) MIM:619851
- Auditory neuropathy, autosomal dominant 2 (AUNA2) MIM:620384
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 309 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hearing loss, autosomal dominant 84
- Leukodystrophy, hypomyelinating, 24
- Autosomal dominant nonsyndromic hearing loss 33
- Auditory neuropathy, autosomal dominant 2
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)
- 0.47
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.37
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- phospholipid translocation
- positive regulation of myotube differentiation
- regulation of membrane lipid distribution
Molecular functions
- ATP binding
- ATP hydrolysis activity
- ATPase-coupled intramembrane lipid transporter activity
- magnesium ion binding
- phosphatidylethanolamine flippase activity
- phosphatidylserine flippase activity
- phosphatidylserine floppase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- P-type ATPase
- P-type ATPase, subfamily IV
- P-type ATPase, A domain superfamily
- P-type ATPase, phosphorylation site
- HAD superfamily
- P-type ATPase, transmembrane domain superfamily
- P-type ATPase, cytoplasmic domain N
- P-type ATPase, C-terminal
- P-type ATPase, N-terminal
- HAD-like superfamily
- P-type ATPase, haloacid dehalogenase domain
- P-type ATPase, A domain
- P-type ATPase actuator domain
- P-type ATPase, cytoplasmic domain N
- Phospholipid-translocating ATPase N-terminal
- Phospholipid-translocating P-type ATPase C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATP11A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ATP11A as an antibody target. Whether an autoantibody or antibody against ATP11A could matter depends on whether native ATP11A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATP11A is annotated at the cell surface, where native ATP11A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ATP11A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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