Gene Page: ATP7A

Summary ?
GeneID538
SymbolATP7A
SynonymsDSMAX|MK|MNK|SMAX3
DescriptionATPase copper transporting alpha
ReferenceMIM:300011|HGNC:HGNC:869|Ensembl:ENSG00000165240|HPRD:02054|Vega:OTTHUMG00000021885
Gene typeprotein-coding
Map locationXq21.1
Fetal beta1.155

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 10 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0000287magnesium ion bindingIEA-
GO:0004008copper-exporting ATPase activityIEA-
GO:0004008copper-exporting ATPase activityISS-
GO:0005375copper ion transmembrane transporter activityIEA-
GO:0005375copper ion transmembrane transporter activityISS-
GO:0005507copper ion bindingIDA15670166 
GO:0005507copper ion bindingIEA-
GO:0005524ATP bindingIEA-
GO:0005524ATP bindingTAS9817923 
GO:0016787hydrolase activityIEA-
GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesIEA-
GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismIEA-
GO:0016532superoxide dismutase copper chaperone activityISS-
GO:0015097mercury ion transmembrane transporter activityIEA-
GO:0032767copper-dependent protein bindingIPI10497213 
GO:0046872metal ion bindingIEA-
GO:0046873metal ion transmembrane transporter activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0021702cerebellar Purkinje cell differentiationISSneuron, GABA, Brain (GO term level: 15)-
GO:0021954central nervous system neuron developmentISSneuron (GO term level: 10)-
GO:0021860pyramidal neuron developmentISSneuron, Brain (GO term level: 12)-
GO:0043526neuroprotectionISSneuron (GO term level: 9)-
GO:0048812neurite morphogenesisISSneuron, axon, neurite, dendrite (GO term level: 11)-
GO:0042428serotonin metabolic processISSserotonin, Neurotransmitter (GO term level: 8)-
GO:0042417dopamine metabolic processISSNeurotransmitter, dopamine (GO term level: 8)-
GO:0042415norepinephrine metabolic processISSNeurotransmitter (GO term level: 8)-
GO:0001568blood vessel developmentISS-
GO:0002082regulation of oxidative phosphorylationISS-
GO:0001974blood vessel remodelingISS-
GO:0030001metal ion transportIEA-
GO:0008152metabolic processIEA-
GO:0010273detoxification of copper ionISS-
GO:0007626locomotory behaviorISS-
GO:0006825copper ion transportIEA-
GO:0006811ion transportIEA-
GO:0006810transportIEA-
GO:0007005mitochondrion organizationISS-
GO:0006878cellular copper ion homeostasisIMP16397091 
GO:0006568tryptophan metabolic processISS-
GO:0015694mercury ion transportIEA-
GO:0015677copper ion importISS-
GO:0042093T-helper cell differentiationISS-
GO:0018205peptidyl-lysine modificationISS-
GO:0031069hair follicle morphogenesisISS-
GO:0043473pigmentationISS-
GO:0030199collagen fibril organizationISS-
GO:0051216cartilage developmentISS-
GO:0051353positive regulation of oxidoreductase activityIDA11092760 
GO:0042414epinephrine metabolic processISS-
GO:0048251elastic fiber assemblyISS-
GO:0048286alveolus developmentISS-
GO:0019430removal of superoxide radicalsISS-
GO:0043588skin developmentISS-
GO:0048553negative regulation of metalloenzyme activityISS-
GO:0048554positive regulation of metalloenzyme activityISS-
GO:0051542elastin biosynthetic processISS-
GO:0060003copper ion exportISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0043025cell somaISSaxon, dendrite (GO term level: 4)-
GO:0043005neuron projectionISSneuron, axon, neurite, dendrite (GO term level: 5)-
GO:0005794Golgi apparatusIDA9467005 
GO:0005802trans-Golgi networkIDA8943055 |12812980 
GO:0005737cytoplasmIEA-
GO:0005770late endosomeIDA8943055 
GO:0005783endoplasmic reticulumIEA-
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneIDA12812980 
GO:0048471perinuclear region of cytoplasmIDA8943055 |10567439 |16397091 
GO:0016323basolateral plasma membraneIDA16397091 
GO:0030140trans-Golgi network transport vesicleIMP9817923 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME ION TRANSPORT BY P TYPE ATPASES 3421All SZGR 2.0 genes in this pathway
REACTOME ION CHANNEL TRANSPORT 5542All SZGR 2.0 genes in this pathway
LIU SOX4 TARGETS UP 13794All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN 384230All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A UP 191128All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK UP 11668All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS LUMINAL 326213All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA HIF1A DN 11078All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 AND HIF1A UP 142104All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830547All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE BY UV 6243All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE UP 226164All SZGR 2.0 genes in this pathway
KANG CISPLATIN RESISTANCE UP 1911All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366257All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN 225124All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 14583All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229135All SZGR 2.0 genes in this pathway
BAKKER FOXO3 TARGETS UP 6141All SZGR 2.0 genes in this pathway
TERAO AOX4 TARGETS SKIN UP 3827All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS DN 10971All SZGR 2.0 genes in this pathway
KUMAR PATHOGEN LOAD BY MACROPHAGES 275155All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL UP 289184All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1/20633633369m8hsa-miR-1UGGAAUGUAAAGAAGUAUGUA
hsa-miR-206SZUGGAAUGUAAGGAAGUGUGUGG
hsa-miR-613AGGAAUGUUCCUUCUUUGCC
miR-124.1522528m8hsa-miR-124aUUAAGGCACGCGGUGAAUGCCA
miR-124/5065215281A,m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-148/15236431A,m8hsa-miR-148aUCAGUGCACUACAGAACUUUGU
hsa-miR-152brainUCAGUGCAUGACAGAACUUGGG
hsa-miR-148bUCAGUGCAUCACAGAACUUUGU
miR-182345934651Ahsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-20520552061m8hsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-2236676741A,m8hsa-miR-223UGUCAGUUUGUCAAAUACCCC
miR-29206020661Ahsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
miR-30-5p196619721Ahsa-miR-30a-5pUGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrainUGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZUGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZUGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5pUGUAAACAUCCUUGACUGGA
miR-421332433301Ahsa-miR-421GGCCUCAUUAAAUGUUUGUUG
miR-9293029361Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA
miR-96345934651Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC