ATP7A_HUMAN
Source:
hRBCD
; ID:
IPI00028610
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
ATP7A
, MC1, MNK
Protein names and data:
ATP7A_HUMAN
, Copper-transporting ATPase 1; 3.6.3.54
, Copper pump 1; Menkes disease-associated protein
Lenght: 1500 a.a.
Mass: 163374 Da
fasta formatted sequence
Function:
May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.
Catalytic activity:
ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2).
Disease:
( OMIM:
300011
300489
304150
309400
)
Menkes disease (MNKD) [MIM:309400]: An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. Note=The disease is caused by mutations affecting the gene represented in this entry. Occipital horn syndrome (OHS) [MIM:304150]: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. Note=The disease is caused by mutations affecting the gene represented in this entry. Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Cycles constitutively between the trans- Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. Isoform 3: Cytoplasm, cytosol (Probable). Isoform 5: Endoplasmic reticulum.
Tissue specificity:
Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.
Genetic variants
629 - 629
A -> P (in MNKD). VAR_000699
637 - 637
S -> L (in OHS; dbSNP:rs28936068). VAR_009999
28936068
669 - 669
I -> T (in dbSNP:rs2234935). VAR_016119
2234935
703 - 703
R -> H (in dbSNP:rs2234936). VAR_016120
2234936
706 - 706
L -> R (in MNKD). VAR_023261
727 - 727
G -> R (in MNKD). VAR_000700
767 - 767
V -> L (in dbSNP:rs2227291). VAR_010000
2227291
844 - 844
R -> H (in MNKD). VAR_023262
853 - 853
G -> R (in MNKD). VAR_023263
860 - 860
G -> V (in MNKD). VAR_023264
873 - 873
L -> R (in MNKD). VAR_010001
876 - 876
G -> E (in MNKD). VAR_010002
876 - 876
G -> R (in MNKD). VAR_023265
924 - 924
Q -> R (in MNKD). VAR_023266
994 - 994
T -> I (in DSMAX3; demonstrates impaired intracellular trafficking compared to control with some of the mutant protein remaining in the Golgi apparatus after exposure to copper). VAR_063882
1000 - 1000
C -> R (in MNKD). VAR_010003
1006 - 1006
L -> P (in MNKD). VAR_000701
1007 - 1007
A -> V (in MNKD). VAR_023267
1015 - 1015
G -> D (in MNKD). VAR_023268
1019 - 1019
G -> D (in MNKD). VAR_000702
1044 - 1044
D -> G (in MNKD). VAR_023269
1048 - 1048
T -> I (in MNKD). VAR_068831
1100 - 1100
L -> P (in MNKD). VAR_023270
1118 - 1118
G -> D (in MNKD). VAR_023271
1255 - 1255
G -> R (in MNKD). VAR_023272
1282 - 1282
K -> E (in MNKD). VAR_023273
1300 - 1300
G -> E (in MNKD). VAR_010004
1302 - 1302
G -> R (in MNKD). VAR_010005
1302 - 1302
G -> V (in MNKD). VAR_010006
1304 - 1304
N -> K (in MNKD). VAR_023274
1304 - 1304
N -> S (in OHS; has approximately 33% residual copper transport). VAR_063883
1305 - 1305
D -> A (in MNKD). VAR_010007
1315 - 1315
G -> R (in MNKD). VAR_023275
1325 - 1325
A -> V (in MNKD). VAR_023276
1344 - 1344
S -> R (in MNKD). VAR_023277
1345 - 1345
I -> F (in MNKD). VAR_023278
1362 - 1362
A -> V (in MNKD). VAR_010008
1369 - 1369
G -> R (in MNKD). VAR_023279
1386 - 1386
P -> S (in DSMAX3; demonstrates impaired intracellular trafficking compared to control with some mutant protein remaining in the Golgi apparatus after exposure to copper). VAR_063884
1397 - 1397
S -> F (in MNKD). VAR_023280
1464 - 1464
I -> V (in dbSNP:rs2234938). VAR_016121
2234938
Database cross-references
UniProt:
Q04656
Ensembl:
ENST00000341514
Ensembl:
ENST00000343533
Ensembl:
ENST00000350425
MIM:
300011
MIM:
300489
MIM:
304150
MIM:
309400
neXtProt:
NX_Q04656
Antibodypedia:
Q04656
(may not find the protein thus also not any antibody)
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