ATP9A
entrez
10079
canonical
uniprot
O75110
canonical
ensembl
ENSG00000054793
resolver
ensp
ENSP00000342481
resolver
genesymbol
ATP9A
resolver
genesymbol_syn
ATPIIA
resolver
genesymbol_syn
KIAA0611
resolver
hgnc
HGNC:13540
resolver
uniprot
B4DR18
resolver
uniprot
E1P5Y3
resolver
uniprot
E1P5Y4
resolver
uniprot
Q2NLD0
resolver
uniprot
Q5TFW5
resolver
uniprot
Q5TFW6
resolver
uniprot
Q5TFW9
resolver
uniprot
Q6ZMF3
resolver
uniprot
Q9NQK6
resolver
uniprot
Q9NQK7
resolver
uniprot_entry
ATP9A_HUMAN
resolver
uniprot_entry
B4DR18_HUMAN
resolver
uniprot_entry
Q2NLD0_HUMAN
resolver
uniprot_sec
E1P5Y3
resolver
uniprot_sec
E1P5Y4
resolver
uniprot_sec
Q5TFW5
resolver
uniprot_sec
Q5TFW6
resolver
uniprot_sec
Q5TFW9
resolver
uniprot_sec
Q6ZMF3
resolver
uniprot_sec
Q9NQK6
resolver
uniprot_sec
Q9NQK7
resolver
amino_acid_sequence
MTDNIPLQPVRQKKRMDSRPRAGCCEWLRCCGGGEARPRTVWLGHPEKRDQRYPRNVINNQKYNFFTFLPGVLFNQFKYFFNLYFLLLACSQFVPEMRLGALYTYWVPLGFVLAVTVIREAVEEIRCYVRDKEVNSQVYSRLTARGTVKVKSSNIQVGDLIIVEKNQRVPADMIFLRTSEKNGSCFLRTDQLDGETDWKLRLPVACTQRLPTAADLLQIRSYVYAEEPNIDIHNFVGTFTREDSDPPISESLSIENTLWAGTVVASGTVVGVVLYTGRELRSVMNTSNPRSKIGLFDLEVNCLTKILFGALVVVSLVMVALQHFAGRWYLQIIRFLLLFSNIIPISLRVNLDMGKIVYSWVIRRDSKIPGTVVRSSTIPEQLGRISYLLTDKTGTLTQNEMIFKRLHLGTVAYGLDSMDEVQSHIFSIYTQQSQDPPAQKGPTLTTKVRRTMSSRVHEAVKAIALCHNVTPVYESNGVTDQAEAEKQYEDSCRVYQASSPDEVALVQWTESVGLTLVGRDQSSMQLRTPGDQILNFTILQIFPFTYESKRMGIIVRDESTGEITFYMKGADVVMAGIVQYNDWLEEECGNMAREGLRVLVVAKKSLAEEQYQDFEARYVQAKLSVHDRSLKVATVIESLEMEMELLCLTGVEDQLQADVRPTLETLRNAGIKVWMLTGDKLETATCTAKNAHLVTRNQDIHVFRLVTNRGEAHLELNAFRRKHDCALVISGDSLEVCLKYYEYEFMELACQCPAVVCCRCAPTQKAQIVRLLQERTGKLTCAVGDGGNDVSMIQESDCGVGVEGKEGKQASLAADFSITQFKHLGRLLMVHGRNSYKRSAALSQFVIHRSLCISTMQAVFSSVFYFASVPLYQGFLIIGYSTIYTMFPVFSLVLDKDVKSEVAMLYPELYKDLLKGRPLSYKTFLIWVLISIYQGSTIMYGALLLFESEFVHIVAISFTSLILTELLMVALTIQTWHWLMTVAELLSLACYIASLVFLHEFIDVYFIATLSFLWKVSVITLVSCLPLYVLKYLRRRFSPPSYSKLTS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) [MIM:620242]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, absent speech, and behavioral abnormalities, including hyperactivity and attention deficit disorder. Affected individuals show failure to thrive with poor overall growth, and some have microcephaly. Additional features may include non-specific facial dysmorphism, hypotonia, and feeding difficulties. {ECO:0000269|PubMed:34379057, ECO:0000269|PubMed:34764295, ECO:0000269|PubMed:36604604}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.1
uniprot
proteins
function
FUNCTION: Plays a role in regulating membrane trafficking of cargo proteins, namely endosome to plasma membrane recycling, probably acting through RAB5 and RAB11 activation (PubMed:27733620, PubMed:30213940, PubMed:36604604). Also involved in endosome to trans-Golgi network retrograde transport (PubMed:27733620, PubMed:30213940). In complex with MON2 and DOP1B, regulates SNX3 retromer-mediated endosomal sorting of WLS, a transporter of Wnt morphogens in developing tissues. Participates in the formation of endosomal carriers that direct WLS trafficking back to Golgi, away from lysosomal degradation (PubMed:30213940). Appears to be implicated in intercellular communication by negatively regulating the release of exosomes (PubMed:30947313). The flippase activity towards membrane lipids and its role in membrane asymmetry remains to be proved (PubMed:30947313). Required for the maintenance of neurite morphology and synaptic transmission (By similarity). {ECO:0000250|UniProtKB:O70228, ECO:0000269|PubMed:27733620, ECO:0000269|PubMed:30213940, ECO:0000269|PubMed:30947313, ECO:0000269|PubMed:36604604}.
uniprot
proteins
mass_dalton
118583
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IV subfamily
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
21914794
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
27733620
uniprot
proteins
pubmed
30213940
uniprot
proteins
pubmed
30947313
uniprot
proteins
pubmed
34379057
uniprot
proteins
pubmed
34764295
uniprot
proteins
pubmed
36604604
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1047
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:27733620, ECO:0000269|PubMed:30213940}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:27733620}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:36604604}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:27733620, ECO:0000269|PubMed:30213940}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:30947313}; Multi-pass membrane protein. Note=Efficient exit from the endoplasmic reticulum does not require CDC50A, nor CDC50B (PubMed:21914794). Transiently expressed in the cell membrane (PubMed:30947313). {ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:30947313}.
uniprot
proteins
transmembrane_region
TRANSMEM 70..91; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 97..119; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 304..325; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 333..354; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 842..862; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 875..893; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 924..942; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 950..972; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 979..999; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1007..1030; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins