• Gene id: 538

Gene Summary

• Gene Symbol: ATP7A   Gene   UCSC   Ensembl
• Aliases: DSMAX, MK, MNK, SMAX3
• Gene name: ATPase copper transporting alpha
• Alternate names: copper-transporting ATPase 1, ATPase, Cu++ transporting, alpha polypeptide, Cu++-transporting P-type ATPase, Menkes disease-associated protein, copper pump 1,
• Gene location: Xq21.1 (77910655: 78050394)     Exons: 23     NC_000023.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalize
• OMIM: 300011

Protein Summary

• Protein general information: Q04656  
  • Name: Copper transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease associated protein)
  • Length: 1500  
  • Mass: 163373
  • 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 fibroblast
• Sequence:

  MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMGFDAVI
  HNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIKELVPELSLDT
  GTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEM
  KKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLS
  ALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSSSSLQKIPLNVVSQPL
  TQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVEYDPLLTSPETLRGAIEDMGFDATLSDTNEP
  LVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMA
  GKAEVRYNPAVIQPPMIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALA
  TNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMD
  HHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLI
  VLATTIAFAYSLIILLVAMYERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTL
  DSDNILLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSL
  LICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYN
  RSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTIT
  HGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTN
  IEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVN
  DFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFA
  EVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIDLSRK
  TVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQ
  IGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL

• Structural information:
  • Protein Domains: (9..7-)
    (/note="HMA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00280-)
    (172..23-)
    (/note="HMA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00280-)
    (278..34-)
    (/note="HMA-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00280-)
    (-)
  • Interpro: IPR023299  IPR018303  IPR023298  IPR008250  IPR036412   IPR017969  IPR006122  IPR006121  IPR036163  IPR027256  IPR001757  
  • Prosite: PS00154 PS01047 PS50846
  • CDD: cd00371
  • PDB: 1AW0 1KVI 1KVJ 1Q8L 1S6O 1S6U 1Y3J 1Y3K 1YJR 1YJT 1YJU 1YJV 2AW0 2G9O 2GA7 2K1R 2KIJ 2KMV 2KMX 3CJK 5T7L
  • PDBsum: 1AW0 1KVI 1KVJ 1Q8L 1S6O 1S6U 1Y3J 1Y3K 1YJR 1YJT 1YJU 1YJV 2AW0 2G9O 2GA7 2K1R 2KIJ 2KMV 2KMX 3CJK 5T7L
  • STRING: ENSP00000345728
• Other Databases: GeneCards:  ATP7A  Malacards:  ATP7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030140	trans-Golgi network transport vesicle	IMP	cellular component
GO:0005524	ATP binding	TAS	molecular function
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0043682	copper transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0060003	copper ion export	IBA	biological process
GO:0006878	cellular copper ion homeostasis	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0030001	metal ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071280	cellular response to copper ion	IEA	biological process
GO:0071279	cellular response to cobalt ion	IEA	biological process
GO:0071276	cellular response to cadmium ion	IEA	biological process
GO:0071236	cellular response to antibiotic	IEA	biological process
GO:0060003	copper ion export	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0046688	response to copper ion	IEA	biological process
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0031252	cell leading edge	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0010592	positive regulation of lamellipodium assembly	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010042	response to manganese ion	IEA	biological process
GO:0010041	response to iron(III) ion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:1904959	regulation of cytochrome-c oxidase activity	IEA	biological process
GO:1904754	positive regulation of vascular associated smooth muscle cell migration	IEA	biological process
GO:1903036	positive regulation of response to wounding	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071284	cellular response to lead ion	IEA	biological process
GO:0071281	cellular response to iron ion	IEA	biological process
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0034760	negative regulation of iron ion transmembrane transport	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0010288	response to lead ion	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:1903136	cuprous ion binding	IMP	molecular function
GO:1903136	cuprous ion binding	IMP	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005507	copper ion binding	IDA	molecular function
GO:0051353	positive regulation of oxidoreductase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0051216	cartilage development	ISS	biological process
GO:0042428	serotonin metabolic process	ISS	biological process
GO:0042417	dopamine metabolic process	ISS	biological process
GO:0042414	epinephrine metabolic process	ISS	biological process
GO:0042093	T-helper cell differentiation	ISS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0006584	catecholamine metabolic process	ISS	biological process
GO:0005375	copper ion transmembrane transporter activity	ISS	molecular function
GO:0043682	copper transmembrane transporter activity, phosphorylative mechanism	ISS	molecular function
GO:0060003	copper ion export	ISS	biological process
GO:0043588	skin development	ISS	biological process
GO:0043473	pigmentation	ISS	biological process
GO:0043085	positive regulation of catalytic activity	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0030199	collagen fibril organization	ISS	biological process
GO:0015677	copper ion import	ISS	biological process
GO:0006878	cellular copper ion homeostasis	IMP	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0042415	norepinephrine metabolic process	ISS	biological process
GO:0031069	hair follicle morphogenesis	ISS	biological process
GO:0019430	removal of superoxide radicals	ISS	biological process
GO:0010273	detoxification of copper ion	ISS	biological process
GO:0006825	copper ion transport	IMP	biological process
GO:0006568	tryptophan metabolic process	ISS	biological process
GO:0002082	regulation of oxidative phosphorylation	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0051542	elastin biosynthetic process	ISS	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0048251	elastic fiber assembly	ISS	biological process
GO:0032767	copper-dependent protein binding	IPI	molecular function
GO:0030198	extracellular matrix organization	ISS	biological process
GO:0021954	central nervous system neuron development	ISS	biological process
GO:0021860	pyramidal neuron development	ISS	biological process
GO:0021702	cerebellar Purkinje cell differentiation	ISS	biological process
GO:0018205	peptidyl-lysine modification	ISS	biological process
GO:0016532	superoxide dismutase copper chaperone activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001568	blood vessel development	ISS	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Distal hereditary motor neuropathies	KEGG:H00856
Spinal muscular atrophy	KEGG:H00455
Menkes syndrome	KEGG:H00209
Occipital horn syndrome	KEGG:H01859
Distal hereditary motor neuropathies	KEGG:H00856
Spinal muscular atrophy	KEGG:H00455
Menkes syndrome	KEGG:H00209
Occipital horn syndrome	KEGG:H01859
X-linked distal spinal muscular atrophy 3	PMID:20170900
Occipital horn syndrome	PMID:9467005
Menkes disease	PMID:22074552
Cutis laxa	PMID:10739752
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)