ATP9A

Protein identityUniProt · HPA

UniProt accession

O75110

Gene

ATP9A

Ensembl

ENSG00000054793

Chromosome

20

Canonical length

1047 aa

Protein class

Enzymes, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome; perinuclear region of cytoplasm; and trans-Golgi network membrane. Implicated in neurodevelopmental disorder with poor growth and behavioral abnormalities. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1047 residues, UniProt reviewed canonical sequence.

>O75110|ATP9A
     1  MTDNIPLQPV RQKKRMDSRP RAGCCEWLRC CGGGEARPRT VWLGHPEKRD QRYPRNVINN
    61  QKYNFFTFLP GVLFNQFKYF FNLYFLLLAC SQFVPEMRLG ALYTYWVPLG FVLAVTVIRE
   121  AVEEIRCYVR DKEVNSQVYS RLTARGTVKV KSSNIQVGDL IIVEKNQRVP ADMIFLRTSE
   181  KNGSCFLRTD QLDGETDWKL RLPVACTQRL PTAADLLQIR SYVYAEEPNI DIHNFVGTFT
   241  REDSDPPISE SLSIENTLWA GTVVASGTVV GVVLYTGREL RSVMNTSNPR SKIGLFDLEV
   301  NCLTKILFGA LVVVSLVMVA LQHFAGRWYL QIIRFLLLFS NIIPISLRVN LDMGKIVYSW
   361  VIRRDSKIPG TVVRSSTIPE QLGRISYLLT DKTGTLTQNE MIFKRLHLGT VAYGLDSMDE
   421  VQSHIFSIYT QQSQDPPAQK GPTLTTKVRR TMSSRVHEAV KAIALCHNVT PVYESNGVTD
   481  QAEAEKQYED SCRVYQASSP DEVALVQWTE SVGLTLVGRD QSSMQLRTPG DQILNFTILQ
   541  IFPFTYESKR MGIIVRDEST GEITFYMKGA DVVMAGIVQY NDWLEEECGN MAREGLRVLV
   601  VAKKSLAEEQ YQDFEARYVQ AKLSVHDRSL KVATVIESLE MEMELLCLTG VEDQLQADVR
   661  PTLETLRNAG IKVWMLTGDK LETATCTAKN AHLVTRNQDI HVFRLVTNRG EAHLELNAFR
   721  RKHDCALVIS GDSLEVCLKY YEYEFMELAC QCPAVVCCRC APTQKAQIVR LLQERTGKLT
   781  CAVGDGGNDV SMIQESDCGV GVEGKEGKQA SLAADFSITQ FKHLGRLLMV HGRNSYKRSA
   841  ALSQFVIHRS LCISTMQAVF SSVFYFASVP LYQGFLIIGY STIYTMFPVF SLVLDKDVKS
   901  EVAMLYPELY KDLLKGRPLS YKTFLIWVLI SIYQGSTIMY GALLLFESEF VHIVAISFTS
   961  LILTELLMVA LTIQTWHWLM TVAELLSLAC YIASLVFLHE FIDVYFIATL SFLWKVSVIT
  1021  LVSCLPLYVL KYLRRRFSPP SYSKLTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP9A 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)

0.25

Highest tissue expression

88 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP9A.

Disease | AllUniProt

Conditions ATP9A is implicated in, by any mechanism.

• Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) MIM:620242

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with poor growth and behavioral abnormalities
• See cases

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)

0.21

gnomAD pLI

1

gnomAD missense Z

4.15

DepMap mean gene effect

0

DepMap dependency class

none

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

• endocytosis
• negative regulation of exosomal secretion
• neuron projection morphogenesis
• phospholipid translocation
• regulation of endocytic recycling
• regulation of retrograde transport, endosome to Golgi
• retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATPase-coupled intramembrane lipid transporter activity
• magnesium ion binding
• protease binding

Cellular components

• early endosome
• early endosome membrane
• endosome
• late endosome
• late endosome membrane
• perinuclear region of cytoplasm
• plasma membrane
• recycling endosome
• recycling endosome membrane
• trans-Golgi network
• trans-Golgi network membrane

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
• haloacid dehalogenase-like hydrolase
• Phospholipid-translocating ATPase N-terminal
• Phospholipid-translocating P-type ATPase C-terminal

KeywordsUniProt

• Acetylation
• ATP-binding
• Cell membrane
• Endosome
• Golgi apparatus
• Intellectual disability
• Lipid transport
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP9A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAB11A
• RAB5A