Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

ATP7A_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed, PubMed, PubMed). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed, PubMed, PubMed, PubMed, PubMed). Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway (PubMed, PubMed). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (PubMed, PubMed). May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (PubMed) . In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis . [View more on UniProt]

Protein features

Binary interactions with known binding regions

Interacting region for partners were not defined.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
629 Ala Pro Menkesdisease(MNK) -
727 Gly Arg Menkesdisease(MNK) -
1006 Leu Pro Menkesdisease(MNK) -
1019 Gly Asp Menkesdisease(MNK) -
637 Ser Leu Occipitalhornsyndrome(OHS) -
873 Leu Arg Menkesdisease(MNK) -
876 Gly Glu Menkesdisease(MNK) -
1000 Cys Arg Menkesdisease(MNK) -
1300 Gly Glu Menkesdisease(MNK) -
1302 Gly Arg Menkesdisease(MNK) -
1302 Gly Val Menkesdisease(MNK) -
1305 Asp Ala Menkesdisease(MNK) -
1362 Ala Val Menkesdisease(MNK) -
706 Leu Arg Menkesdisease(MNK) -
844 Arg His Menkesdisease(MNK) -
853 Gly Arg Menkesdisease(MNK) -
860 Gly Val Menkesdisease(MNK) -
876 Gly Arg Menkesdisease(MNK) -
924 Gln Arg Occipitalhornsyndrome(OHS) -
1007 Ala Val Menkesdisease(MNK) -
1015 Gly Asp Menkesdisease(MNK) -
1044 Asp Gly Menkesdisease(MNK) -
1100 Leu Pro Menkesdisease(MNK) -
1118 Gly Asp Menkesdisease(MNK) -
1255 Gly Arg Menkesdisease(MNK) -
1282 Lys Glu Menkesdisease(MNK) -
1304 Asn Lys Menkesdisease(MNK) -
1315 Gly Arg Menkesdisease(MNK) -
1325 Ala Val Menkesdisease(MNK) -
1344 Ser Arg Menkesdisease(MNK) -
1345 Ile Phe Menkesdisease(MNK) -
1369 Gly Arg Menkesdisease(MNK) -
1397 Ser Phe Menkesdisease(MNK) -
994 Thr Ile Distalspinalmuscularatrophy,X-linked,3(DSMAX3) -
1304 Asn Ser Occipitalhornsyndrome(OHS) -
1386 Pro Ser Distalspinalmuscularatrophy,X-linked,3(DSMAX3) -
1048 Thr Ile Menkesdisease(MNK) -
628 Glu Val Menkesdisease(MNK) -
633 Lys Arg Menkesdisease(MNK) -
653 Ser Tyr Menkesdisease(MNK) -
666 Gly Arg Menkesdisease(MNK) -
728 Gly Asp Menkesdisease(MNK) -
761 Ser Pro Menkesdisease(MNK) -
802 Lys Asn Menkesdisease(MNK) -
1005 Gly Arg Menkesdisease(MNK) -
1037 Lys Asn Menkesdisease(MNK) -
1301 Asp Gly Menkesdisease(MNK) -
1302 Gly Glu Menkesdisease(MNK) -
1305 Asp Gly Menkesdisease(MNK) -
1308 Ala Asp Menkesdisease(MNK) -
1373 Ala Pro Menkesdisease(MNK) -
1393 Met Thr Menkesdisease(MNK) -

Linear motifs

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in ATP7A_HUMAN
GO:0017076 purine nucleotide binding 45.0000 4 yes
GO:0032555 purine ribonucleotide binding 45.0000 4 yes
GO:0035639 purine ribonucleoside triphosphate binding 45.0000 4 yes
GO:0016462 pyrophosphatase activity 35.0000 5 no
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides 35.0000 4 no
GO:0017111 ribonucleoside triphosphate phosphatase activity 35.0000 6 no
GO:0005525 GTP binding 32.5000 5 no
GO:0019001 guanyl nucleotide binding 32.5000 5 no
GO:0032561 guanyl ribonucleotide binding 32.5000 5 no
GO:0003924 GTPase activity 30.0000 7 no
GO:0019003 GDP binding 25.0000 4 no
GO:0005524 ATP binding 12.5000 5 yes
GO:0030554 adenyl nucleotide binding 12.5000 5 yes
GO:0032559 adenyl ribonucleotide binding 12.5000 5 yes
GO:0046872 metal ion binding 12.5000 4 yes
GO:0051020 GTPase binding 10.0000 4 yes
GO:0008324 cation transmembrane transporter activity 7.5000 4 yes
GO:0031267 small GTPase binding 7.5000 5 yes
GO:0015399 primary active transmembrane transporter activity 5.0000 4 yes
GO:0015662 P-type ion transporter activity 5.0000 4 yes
GO:0022853 active ion transmembrane transporter activity 5.0000 4 yes
GO:0022890 inorganic cation transmembrane transporter activity 5.0000 4 yes
GO:0046873 metal ion transmembrane transporter activity 5.0000 5 yes
GO:0046914 transition metal ion binding 5.0000 5 yes

Biological process

Term Name % Distance from top the of the tree Annotated in ATP7A_HUMAN
GO:0048522 positive regulation of cellular process 60.0000 4 yes
GO:0048523 negative regulation of cellular process 52.5000 4 yes
GO:0060255 regulation of macromolecule metabolic process 52.5000 4 yes
GO:0051128 regulation of cellular component organization 50.0000 4 yes
GO:0008104 protein localization 47.5000 4 no
GO:0009893 positive regulation of metabolic process 45.0000 4 yes
GO:0031323 regulation of cellular metabolic process 42.5000 4 yes
GO:0010604 positive regulation of macromolecule metabolic process 42.5000 5 no
GO:0080090 regulation of primary metabolic process 42.5000 4 no
GO:0071702 organic substance transport 42.5000 4 no
GO:0051171 regulation of nitrogen compound metabolic process 40.0000 4 no
GO:0071705 nitrogen compound transport 40.0000 4 no
GO:0006996 organelle organization 37.5000 4 yes
GO:0010468 regulation of gene expression 37.5000 5 yes
GO:0051173 positive regulation of nitrogen compound metabolic process 37.5000 5 no
GO:0051246 regulation of protein metabolic process 37.5000 5 no
GO:0022607 cellular component assembly 35.0000 4 yes
GO:0031325 positive regulation of cellular metabolic process 35.0000 5 yes
GO:0051049 regulation of transport 35.0000 4 yes
GO:0010646 regulation of cell communication 35.0000 4 no
GO:0051247 positive regulation of protein metabolic process 35.0000 6 no
GO:0009892 negative regulation of metabolic process 35.0000 4 no
GO:0048584 positive regulation of response to stimulus 32.5000 4 yes
GO:0009966 regulation of signal transduction 32.5000 4 no
GO:0015031 protein transport 32.5000 4 no
GO:0016192 vesicle-mediated transport 32.5000 4 no
GO:0010647 positive regulation of cell communication 30.0000 5 no
GO:0023056 positive regulation of signaling 30.0000 4 no
GO:0010605 negative regulation of macromolecule metabolic process 30.0000 5 no
GO:0030334 regulation of cell migration 27.5000 5 yes
GO:0042127 regulation of cell population proliferation 27.5000 4 yes
GO:2000145 regulation of cell motility 27.5000 4 yes
GO:0009967 positive regulation of signal transduction 27.5000 5 no
GO:0031399 regulation of protein modification process 27.5000 6 no
GO:0031401 positive regulation of protein modification process 27.5000 7 no
GO:0009889 regulation of biosynthetic process 25.0000 4 yes
GO:0010243 response to organonitrogen compound 25.0000 4 yes
GO:0031326 regulation of cellular biosynthetic process 25.0000 5 yes
GO:0044087 regulation of cellular component biogenesis 25.0000 4 yes
GO:0051130 positive regulation of cellular component organization 25.0000 5 yes
GO:1901701 cellular response to oxygen-containing compound 25.0000 4 yes
GO:0010562 positive regulation of phosphorus metabolic process 25.0000 6 no
GO:0019220 regulation of phosphate metabolic process 25.0000 6 no
GO:0045937 positive regulation of phosphate metabolic process 25.0000 7 no
GO:0051174 regulation of phosphorus metabolic process 25.0000 5 no
GO:0030030 cell projection organization 22.5000 4 yes
GO:0071310 cellular response to organic substance 22.5000 4 yes
GO:0001932 regulation of protein phosphorylation 22.5000 7 no
GO:0001934 positive regulation of protein phosphorylation 22.5000 8 no
GO:0042325 regulation of phosphorylation 22.5000 7 no
GO:0042327 positive regulation of phosphorylation 22.5000 8 no
GO:0006886 intracellular protein transport 22.5000 4 no
GO:0007264 small GTPase mediated signal transduction 22.5000 4 no
GO:0010628 positive regulation of gene expression 22.5000 6 no
GO:0010941 regulation of cell death 22.5000 4 no
GO:0031324 negative regulation of cellular metabolic process 22.5000 5 no
GO:0033043 regulation of organelle organization 22.5000 5 no
GO:0045595 regulation of cell differentiation 22.5000 4 no
GO:1902531 regulation of intracellular signal transduction 22.5000 5 no
GO:1902533 positive regulation of intracellular signal transduction 22.5000 6 no
GO:0030335 positive regulation of cell migration 20.0000 6 yes
GO:0040017 positive regulation of locomotion 20.0000 4 yes
GO:0044089 positive regulation of cellular component biogenesis 20.0000 5 yes
GO:2000147 positive regulation of cell motility 20.0000 5 yes
GO:0009891 positive regulation of biosynthetic process 17.5000 5 yes
GO:0031328 positive regulation of cellular biosynthetic process 17.5000 6 yes
GO:0031344 regulation of cell projection organization 17.5000 5 yes
GO:0043085 positive regulation of catalytic activity 17.5000 4 yes
GO:0080134 regulation of response to stress 17.5000 4 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 17.5000 6 yes
GO:0008284 positive regulation of cell population proliferation 15.0000 5 yes
GO:0036211 protein modification process 15.0000 4 yes
GO:0043412 macromolecule modification 15.0000 4 yes
GO:0097435 supramolecular fiber organization 15.0000 4 yes
GO:0006811 ion transport 12.5000 4 yes
GO:0009059 macromolecule biosynthetic process 12.5000 4 yes
GO:0043200 response to amino acid 12.5000 4 yes
GO:0043269 regulation of ion transport 12.5000 5 yes
GO:0006812 cation transport 10.0000 5 yes
GO:0010959 regulation of metal ion transport 10.0000 6 yes
GO:0018193 peptidyl-amino acid modification 10.0000 5 yes
GO:0031346 positive regulation of cell projection organization 10.0000 6 yes
GO:0048878 chemical homeostasis 10.0000 4 yes
GO:0051051 negative regulation of transport 10.0000 4 yes
GO:0071417 cellular response to organonitrogen compound 10.0000 4 yes
GO:1901699 cellular response to nitrogen compound 10.0000 4 yes
GO:0002082 regulation of oxidative phosphorylation 7.5000 8 yes
GO:0006873 cellular ion homeostasis 7.5000 4 yes
GO:0008361 regulation of cell size 7.5000 5 yes
GO:0010038 response to metal ion 7.5000 4 yes
GO:0030003 cellular cation homeostasis 7.5000 5 yes
GO:0032535 regulation of cellular component size 7.5000 4 yes
GO:0032990 cell part morphogenesis 7.5000 4 yes
GO:0034645 cellular macromolecule biosynthetic process 7.5000 4 yes
GO:0043457 regulation of cellular respiration 7.5000 6 yes
GO:0043467 regulation of generation of precursor metabolites and energy 7.5000 5 yes
GO:0046903 secretion 7.5000 4 yes
GO:0048812 neuron projection morphogenesis 7.5000 7 yes
GO:0048858 cell projection morphogenesis 7.5000 5 yes
GO:0050678 regulation of epithelial cell proliferation 7.5000 5 yes
GO:0050679 positive regulation of epithelial cell proliferation 7.5000 6 yes
GO:0050801 ion homeostasis 7.5000 5 yes
GO:0055080 cation homeostasis 7.5000 6 yes
GO:0060491 regulation of cell projection assembly 7.5000 5 yes
GO:0071229 cellular response to acid chemical 7.5000 4 yes
GO:0071230 cellular response to amino acid stimulus 7.5000 5 yes
GO:0098655 cation transmembrane transport 7.5000 4 yes
GO:0098771 inorganic ion homeostasis 7.5000 6 yes
GO:0120032 regulation of plasma membrane bounded cell projection assembly 7.5000 6 yes
GO:0120034 positive regulation of plasma membrane bounded cell projection assembly 7.5000 6 yes
GO:0120039 plasma membrane bounded cell projection morphogenesis 7.5000 6 yes
GO:1901566 organonitrogen compound biosynthetic process 7.5000 4 yes
GO:1903034 regulation of response to wounding 7.5000 5 yes
GO:1903715 regulation of aerobic respiration 7.5000 7 yes
GO:0001701 in utero embryonic development 5.0000 6 yes
GO:0001889 liver development 5.0000 5 yes
GO:0002521 leukocyte differentiation 5.0000 4 yes
GO:0006875 cellular metal ion homeostasis 5.0000 6 yes
GO:0007005 mitochondrion organization 5.0000 5 yes
GO:0007589 body fluid secretion 5.0000 4 yes
GO:0009792 embryo development ending in birth or egg hatching 5.0000 4 yes
GO:0010591 regulation of lamellipodium assembly 5.0000 7 yes
GO:0010592 positive regulation of lamellipodium assembly 5.0000 7 yes
GO:0014910 regulation of smooth muscle cell migration 5.0000 6 yes
GO:0019752 carboxylic acid metabolic process 5.0000 5 yes
GO:0021954 central nervous system neuron development 5.0000 5 yes
GO:0030001 metal ion transport 5.0000 6 yes
GO:0034762 regulation of transmembrane transport 5.0000 4 yes
GO:0034765 regulation of ion transmembrane transport 5.0000 5 yes
GO:0036293 response to decreased oxygen levels 5.0000 4 yes
GO:0042110 T cell activation 5.0000 4 yes
GO:0043009 chordate embryonic development 5.0000 5 yes
GO:0043436 oxoacid metabolic process 5.0000 4 yes
GO:0048666 neuron development 5.0000 4 yes
GO:0048732 gland development 5.0000 4 yes
GO:0055065 metal ion homeostasis 5.0000 7 yes
GO:0070848 response to growth factor 5.0000 4 yes
GO:0071241 cellular response to inorganic substance 5.0000 4 yes
GO:0071363 cellular response to growth factor stimulus 5.0000 5 yes
GO:0098660 inorganic ion transmembrane transport 5.0000 4 yes
GO:0098662 inorganic cation transmembrane transport 5.0000 5 yes
GO:1902743 regulation of lamellipodium organization 5.0000 7 yes
GO:1902745 positive regulation of lamellipodium organization 5.0000 7 yes
GO:1903036 positive regulation of response to wounding 5.0000 5 yes
GO:1903131 mononuclear cell differentiation 5.0000 5 yes
GO:1904062 regulation of cation transmembrane transport 5.0000 6 yes
GO:1904752 regulation of vascular associated smooth muscle cell migration 5.0000 7 yes

Disease

Term Name % Distance from top the of the tree Annotated in ATP7A_HUMAN
DOID:0060038 specific developmental disorder 5.0000 3 no
DOID:1059 intellectual disability 5.0000 4 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
DTBP1_HUMAN [view entry] [view interactions] Low throughput yes yes
DOPO_HUMAN [view interactions] Low throughput no no
BL1S6_HUMAN [view interactions] Low throughput no yes
ATOX1_HUMAN [view interactions] Low throughput no no
LYOX_HUMAN [view interactions] Low throughput no no
GLRX1_HUMAN [view interactions] Low throughput no yes
CLUS_HUMAN [view entry] [view interactions] Low throughput yes yes
COMD1_HUMAN [view interactions] Low throughput no yes
SODE_HUMAN [view interactions] Low throughput no yes
VGFR2_HUMAN [view interactions] Low throughput no no
PDZ11_HUMAN [view interactions] Low throughput no yes
AL3A2_HUMAN [view entry] [view interactions] High throughput yes yes
MMS19_HUMAN [view interactions] High throughput no yes
S39A7_HUMAN [view interactions] High throughput no yes
S35F6_HUMAN [view interactions] High throughput no yes
SRPRB_HUMAN [view entry] [view interactions] High throughput yes no
RING2_HUMAN [view interactions] High throughput no yes
SC22B_HUMAN [view entry] [view interactions] High throughput yes no
SCLY_HUMAN [view interactions] High throughput no yes
USP9X_HUMAN [view entry] [view interactions] High throughput yes yes
SLIRP_HUMAN [view interactions] High throughput no yes
CCD47_HUMAN [view interactions] High throughput no yes
SPTC1_HUMAN [view interactions] High throughput no yes
RPP30_HUMAN [view interactions] High throughput no yes
HNRPD_HUMAN [view entry] [view interactions] High throughput yes yes
CD9_HUMAN [view entry] [view interactions] High throughput yes no
TMM17_HUMAN [view interactions] High throughput no yes
TGON2_HUMAN [view interactions] High throughput no yes
APBB2_HUMAN [view interactions] High throughput no yes
DNJB2_HUMAN [view entry] [view interactions] High throughput yes yes
LEG9_HUMAN [view interactions] High throughput no yes
NTRK1_HUMAN [view interactions] High throughput no yes
PLK1_HUMAN [view interactions] High throughput no yes
AT2B1_HUMAN [view entry] [view interactions] High throughput yes yes
APC13_HUMAN [view interactions] High throughput no no
BASI_HUMAN [view entry] [view interactions] High throughput yes no
MEN1_HUMAN [view interactions] High throughput no yes
RPN2_HUMAN [view entry] [view interactions] High throughput yes yes
PRP31_HUMAN [view interactions] High throughput no yes
ESYT2_HUMAN [view entry] [view interactions] High throughput yes yes
MIER1_HUMAN [view interactions] High throughput no no
MCU_HUMAN [view interactions] High throughput no yes
COG6_HUMAN [view interactions] High throughput no yes
COG5_HUMAN [view interactions] High throughput no yes
CD83_HUMAN [view interactions] High throughput no yes
RS27_HUMAN [view entry] [view interactions] High throughput yes no
NR3L1_HUMAN [view interactions] High throughput no no
C3AR_HUMAN [view interactions] High throughput no no
CLC2D_HUMAN [view interactions] High throughput no yes
LAMP3_HUMAN [view interactions] High throughput no no
RAB7L_HUMAN [view interactions] High throughput no yes
ITM2A_HUMAN [view interactions] High throughput no no
VIR_HUMAN [view interactions] High throughput no yes
GLUC_HUMAN [view interactions] High throughput no no
SNX27_HUMAN [view entry] [view interactions] High throughput yes no
HUMMR_HUMAN [view interactions] High throughput no yes
HCST_HUMAN [view interactions] High throughput no no
CK087_HUMAN [view interactions] High throughput no yes
IFT27_HUMAN [view interactions] High throughput no yes
RPB11_HUMAN [view interactions] High throughput no no
NUBP1_HUMAN [view interactions] High throughput no yes
LAGE3_HUMAN [view interactions] High throughput no yes
O10H1_HUMAN [view interactions] High throughput no no
LY65C_HUMAN [view interactions] High throughput no no
CHODL_HUMAN [view interactions] High throughput no no
SEM4C_HUMAN [view entry] [view interactions] High throughput yes no
NK3R_HUMAN [view interactions] High throughput no no
TM130_HUMAN [view interactions] High throughput no no
FOXF2_HUMAN [view interactions] High throughput no no
CRCM1_HUMAN [view interactions] High throughput no yes
X3CL1_HUMAN [view interactions] High throughput no yes
FURIN_HUMAN [view interactions] High throughput no yes
KLK12_HUMAN [view interactions] High throughput no no
TSN16_HUMAN [view interactions] High throughput no no
PCDGD_HUMAN [view interactions] High throughput no no
KLRD1_HUMAN [view interactions] High throughput no no
CD3D_HUMAN [view interactions] High throughput no no
TMM59_HUMAN [view interactions] High throughput no yes
NHRF2_HUMAN [view entry] [view interactions] High throughput yes no
RAC3_HUMAN [view entry] [view interactions] High throughput yes no
RHOA_HUMAN [view entry] [view interactions] High throughput yes yes
RHOB_HUMAN [view entry] [view interactions] High throughput yes no
RHOC_HUMAN [view interactions] High throughput no no
RHOF_HUMAN [view interactions] High throughput no no
RAC1_HUMAN [view entry] [view interactions] High throughput yes no
FITM2_HUMAN [view interactions] High throughput no no
ACINU_HUMAN [view interactions] High throughput no yes
RASH_HUMAN [view entry] [view interactions] High throughput yes no
RASK_HUMAN [view entry] [view interactions] High throughput yes no
RASN_HUMAN [view entry] [view interactions] High throughput yes no
DNJC5_HUMAN [view interactions] High throughput no yes
CK052_HUMAN [view interactions] High throughput no no
DIRA3_HUMAN [view interactions] High throughput no yes
CXA1_HUMAN [view entry] [view interactions] High throughput yes yes
CXD3_HUMAN [view interactions] High throughput no no
LAMP1_HUMAN [view interactions] High throughput no yes
LAMP2_HUMAN [view interactions] High throughput no yes
LTOR1_HUMAN [view entry] [view interactions] High throughput yes yes
LYN_HUMAN [view entry] [view interactions] High throughput yes no
OCLN_HUMAN [view interactions] High throughput no no
RAB2A_HUMAN [view entry] [view interactions] High throughput yes yes
RAB35_HUMAN [view entry] [view interactions] High throughput yes yes
RAB4A_HUMAN [view entry] [view interactions] High throughput yes no
RAB5C_HUMAN [view entry] [view interactions] High throughput yes yes
STX7_HUMAN [view entry] [view interactions] High throughput yes yes
AMPN_HUMAN [view interactions] High throughput no no
DPP4_HUMAN [view interactions] High throughput no no
RAB7A_HUMAN [view entry] [view interactions] High throughput yes yes
YIPF5_HUMAN [view interactions] High throughput no yes
CSK2B_HUMAN [view entry] [view interactions] High throughput yes yes
MCA3_HUMAN [view interactions] High throughput no yes
ATP5J_HUMAN [view interactions] High throughput no yes
TNPO1_HUMAN [view entry] [view interactions] High throughput yes yes
SFXN3_HUMAN [view entry] [view interactions] High throughput yes yes
COPT1_HUMAN [view interactions] Computational no no
ATP7B_HUMAN [view interactions] Computational no no
COPT2_HUMAN [view interactions] Computational no yes
CCS_HUMAN [view interactions] Computational no yes
CERU_HUMAN [view interactions] Computational no no
IF4G1_HUMAN [view entry] [view interactions] Computational yes yes
COX17_HUMAN [view interactions] Computational no yes
TERA_HUMAN [view entry] [view interactions] Computational yes yes
IF4E_HUMAN [view entry] [view interactions] Computational yes yes
MC3R_HUMAN [view interactions] Computational no no