ATPase, Cu++ transporting, alpha polypeptide

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Synonym

Menkes disease-associated protein, Copper-transporting ATPase 1, MNK, Copper pump 1, ATP7A, MC1

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:7.10 cerebellum:- brain stem:- corpus callosum/glia:58.30 pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:20.20 peripheral blood:36.40 spleen:- thymus:25.80 bone marrow:59 adipose:- bone:- skin:33.60
GeneChip cerebrum:4.30 cerebellum:3.82 brain stem:4.62 corpus callosum/glia:4.87 pineal gland:- peripheral nerve:5.11 spine:4.60 retina:- eye:- artery/aorta:5.08 vein:4.96 lymphnode:4.91 peripheral blood:- spleen:4.91 thymus:5.10 bone marrow:4.97 adipose:4.79 bone:- skin:5.81
CAGE cerebrum:1.87 cerebellum:- brain stem:2.23 corpus callosum/glia:2.50 pineal gland:2.48 peripheral nerve:- spine:2.48 retina:- eye:- artery/aorta:2.61 vein:2.46 lymphnode:2.95 peripheral blood:- spleen:2.96 thymus:3.14 bone marrow:- adipose:2.92 bone:- skin:-
RNA-seq cerebrum:0.93 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:1.38 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.50 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:9.10 placenta:29.10 prostate:22.50 ovary:- testis:8.70 heart:25.50 muscle:- esophagus:- stomach:21.20 intestine:- colon:17     liver/hepato:-        lung:9.80    bladder:- kidney:10.40 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
GeneChip uterus:5.20 placenta:4.64 prostate:6.19 ovary:5.70 testis:4.04 heart:4.62 muscle:4.47 esophagus:4.56 stomach:4.64 intestine:4.48 colon:4.25 liver/hepato:4.30 lung:4.93 bladder:- kidney:4.90 pituitary:5.80 thyroid/parathyroid:5.18 adrenal gland:5.18 pancreas:4.67 breast:5.97 salivary:5.12
CAGE uterus:2.88 placenta:2.27 prostate:2.82 ovary:2.64 testis:1.68 heart:2.30 muscle:1.86 esophagus:2.93 stomach:- intestine:2.77 colon:2.46     liver/hepato:1.93    lung:3.00 bladder:3.09 kidney:2.81 pituitary:3.20 thyroid/parathyroid:2.37 adrenal gland:- pancreas:1.87 breast:2.53 salivary:3.19
RNA-seq uterus:- placenta:- prostate:2.17 ovary:1.92 testis:1.54 heart:1.15 muscle:1.00 esophagus:- stomach:- intestine:- colon:1.36     liver/hepato:0.63        lung:1.84    bladder:- kidney:1.95 pituitary:- thyroid/parathyroid:1.47 adrenal gland:1.24 pancreas:- breast:1.53 salivary:-

Gene Information

IDs

Refseq ID NM_000052
Gene ID 538
Unigene ID Hs.496414
Probe set ID 205198_s_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000165240
GTEx ID ENSG00000165240

Orthologous Gene

Mouse[2]  NM_001109757, NM_009726
Rat [0]  

Chromosomal Region

Xq21.1  [77,166,194  -  77,305,892]

Gene Family (Interpro ID)

IPR006403  ATPase, P type, cation/copper-transporter
IPR000695  ATPase, P-type, H+ transporting proton pump
IPR006416  ATPase, P-type, heavy metal translocating
IPR001757  ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter
IPR006122  Copper ion-binding
IPR006121  Heavy metal transport/detoxification protein
IPR001802  Mercury scavenger protein

Link to Pubmed  (Pubmed ID)

7490081
7607665
7842019
7977350
8490646
8490647
8490659
8526465
8812725
8923001
8943055
8947031
8981948
9147644
9246006
9437429
9467005
9668166
9693104
9817923
10079814
10079817
10319589
10401004
10484781
10497213
10557326
10567439
10739752
10970802
11040994
11092760
11214319
11241493
11350187
11431706
11936860
12221109
12393797
12485191
12485192
12539960
12539963
12565888
12676902
12679332
12812980
14572476
14635105
14644159
14702039
14977365
14985388
15071553
15135234
15342556
15372525
15670166
15772651
15981243
16051599
16083905
16172131
16211579
16317117
16344560
16397091
16826513
16873374
16884690
17003121
17108763
17109627
17158254
17178205
17496194
17531189
17545667
17562324
17717039
17987894
17989919
18030470
18272047
18515074
18565219
18650808
18688737
18752978
19046832
19127267
19153371
19194885
19453293
19645496
19679821
19917612
19946888
20045993
20170900
20301586
20566629
20671235
20714486
21115196
21117320
21139048
21221114
21242307
21494555
21646353
21667063
21716286
22053931
22074552
22130675
22210628
22304828
22710939
22939629
22992316
23281160
23345593
23596324
23751120
23963605
24100245
24150977
24403508

Gene Ontology  (GO ID)

Biological Process

GO:0001568  blood vessel development
GO:0001974  blood vessel remodeling
GO:0051216  cartilage development
GO:0006584  catecholamine metabolic process
GO:0006878  cellular copper ion homeostasis
GO:0021954  central nervous system neuron development
GO:0021702  cerebellar Purkinje cell differentiation
GO:0030199  collagen fibril organization
GO:0060003  copper ion export
GO:0015677  copper ion import
GO:0006825  copper ion transport
GO:0048813  dendrite morphogenesis
GO:0010273  detoxification of copper ion
GO:0042417  dopamine metabolic process
GO:0048251  elastic fiber assembly
GO:0051542  elastin biosynthetic process
GO:0042414  epinephrine metabolic process
GO:0030198  extracellular matrix organization
GO:0031069  hair follicle morphogenesis
GO:0001701  in utero embryonic development
GO:0034220  ion transmembrane transport
GO:0007626  locomotory behavior
GO:0048286  lung alveolus development
GO:0007005  mitochondrion organization
GO:0048553  negative regulation of metalloenzyme activity
GO:0043524  negative regulation of neuron apoptosis
GO:0048812  neuron projection morphogenesis
GO:0042421  norepinephrine biosynthetic process
GO:0042415  norepinephrine metabolic process
GO:0018205  peptidyl-lysine modification
GO:0043473  pigmentation
GO:0043085  positive regulation of catalytic activity
GO:0048554  positive regulation of metalloenzyme activity
GO:0051353  positive regulation of oxidoreductase activity
GO:0021860  pyramidal neuron development
GO:0010468  regulation of gene expression
GO:0002082  regulation of oxidative phosphorylation
GO:0001836  release of cytochrome c from mitochondria
GO:0019430  removal of superoxide radicals
GO:0010041  response to iron(III) ion
GO:0010043  response to zinc ion
GO:0042428  serotonin metabolic process
GO:0043588  skin development
GO:0042093  T-helper cell differentiation
GO:0055085  transmembrane transport
GO:0006568  tryptophan metabolic process
GO:0006570  tyrosine metabolic process

Cellular Component

GO:0016323  basolateral plasma membrane
GO:0031526  brush border membrane
GO:0043025  cell soma
GO:0005829  cytosol
GO:0005783  endoplasmic reticulum
GO:0005794  Golgi apparatus
GO:0016021  integral to membrane
GO:0005770  late endosome
GO:0043005  neuron projection
GO:0048471  perinuclear region of cytoplasm
GO:0005886  plasma membrane
GO:0030141  secretory granule
GO:0005802  trans-Golgi network
GO:0030140  trans-Golgi network transport vesicle

Molecular Function

GO:0005524  ATP binding
GO:0005507  copper ion binding
GO:0005375  copper ion transmembrane transporter activity
GO:0032767  copper-dependent protein binding
GO:0004008  copper-exporting ATPase activity
GO:0005515  protein binding
GO:0016532  superoxide dismutase copper chaperone activity