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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP7A Gene

protein-coding GIFtS: 67
GCID: GC0XP077166

ATPase, Cu++ transporting, alpha polypeptide

(Previous name: Menkes syndrome )
(Previous symbol: MNK)

Explore 43 diseases affiliated with
ATP7A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, Cu++ Transporting, Alpha Polypeptide¹ ²		Menkes Syndrome¹
MNK¹ ² ³ ⁵		DSMAX²
Copper Pump 1² ³		Copper-Transporting ATPase 1²
Menkes Disease-Associated Protein² ³		Cu++-Transporting P-Type ATPase²
EC 3.6.3.4³ ⁸		MC1³
MK² ⁵		OHS⁵
SMAX3² ⁵		EC 3.6.3⁸

External Ids:	HGNC: 869¹	Entrez Gene: 538²	Ensembl: ENSG00000165240⁷	OMIM: 300011⁵	UniProtKB: Q04656³

Export aliases for ATP7A gene to outside databases

Previous GC identifers: GC0XP072711 GC0XP074127 GC0XP075207 GC0XP075922 GC0XP076972 GC0XP077053 GC0XP070753

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP7A:

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 relocalizes to the plasma membrane under conditions of elevated extracellular copper, and

functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked

cutis laxa, and occipital horn syndrome. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656

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

Gene Wiki entry for ATP7A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP7A gene promoter:
N-Myc RP58 POU2F1 POU2F1a TGIF NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP7A promoter sequence

Search SABiosciences Chromatin IP Primers for ATP7A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP7A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.1 Ensembl cytogenetic band: Xq21.1 HGNC cytogenetic band: Xq21.1

ATP7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP7A gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP077166: view genomic region (about GC identifiers)

Start:	77,166,194 bp from pter	End:	77,305,892 bp from pter
Size:	139,699 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656 (See protein sequence)

Recommended Name: Copper-transporting ATPase 1

Size: 1500 amino acids; 163374 Da

Subunit: Monomer

Subcellular 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

Subcellular location: Isoform 3: Cytoplasm, cytosol (Probable)

Subcellular location: Isoform 5: Endoplasmic reticulum

6/20 PDB 3D structures from and Proteopedia for ATP7A (see all 20):

1AW0 (3D)

1KVI (3D)

1KVJ (3D)

1Q8L (3D)

1S6O (3D)

1S6U (3D)

Secondary accessions: B1AT72 O00227 O00745 Q9BYY8

Alternative splicing: 6 isoforms: Q04656-1 Q04656-2 Q04656-3 Q04656-4 Q04656-5 Q04656-6 (Lacks all transmembrane regions and 5 heavy-metal-associated (HMA) domains, but has a putative nuclear localization signal attached at the N-terminus)

Explore the universe of human proteins at neXtProt for ATP7A: NX_Q04656

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q04656

4/36 DME Specific Peptides for ATP7A (Q04656) (see all 36)

IIRFAFQ

VAMVGDG

GILIKGG

GDNSKTA

ATP7A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000043.3

ENSEMBL proteins:

ENSP00000345728 ENSP00000343026 ENSP00000343678

Reactome Protein details: Q04656
Human Recombinant Protein Products:

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Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000299	integral to membrane of membrane fraction	--	--
GO:0005624	membrane fraction	--	--
GO:0005770	late endosome	IDA	8943055
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005794	Golgi apparatus	IDA	9467005

ATP7A for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP7A for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR006121 HeavyMe-assoc_HMA

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

IPR017969 Heavy-metal-associated_CS

IPR023214 HAD-like_dom

Graphical View of Domain Structure for InterPro Entry Q04656

ProtoNet protein and cluster: Q04656

4 Blocks protein families:

IPB001757 ATPase

IPB001877 Copper-transporting ATPase 1 signature

IPB006121 Heavy metal transport/detoxification protein

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656

Domain: The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving

recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the

protein in the plasma membrane

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily

Similarity: Contains 6 HMA domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656

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(2+)(In) = ADP + phosphate + Cu(2+)(Out)

Genatlas biochemistry entry for ATP7A:

copper binding P-type ATPase 7A,several alternatively spliced isoforms,expressed in the trans-Golgi network of all

tissues except liver for the full length protein and in the endoplasmic reticulum for the spliced form,rapidly

relocalized to the plasma membrane using a C teminal di-leucine endocytic signal in case of elevated copper

levels,involved in subcellular transport and copper efflux,incorporating the copper in cuproenzyme like cytochrome

oxidase,dopamine B-hydroxylase,lysyl oxydase

Enzyme Numbers (IUBMB): EC 3.6.3.4¹ ² EC 3.6.3²

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP7A

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004008	copper-exporting ATPase activity	ISS	--
GO:0005375	copper ion transmembrane transporter activity	ISS	--
GO:0005507	copper ion binding	IDA	15670166
GO:0005515	protein binding	IPI	16884690
GO:0005524	ATP binding	TAS	9817923

ATP7A for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ATP7A:

Large cells

Synthetic lethal with imatinib

Animal Models:
15/20 MGI mutant phenotypes (inferred from 40 alleles) (MGI details for Atp7a) (see all 20):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	homeostasis/metabolism	immune system	integument	limbs/digits/tail
liver/biliary system	mortality/aging	muscle	nervous system	normal

ATP7A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

Platinum Pathway, Pharmacokinetics/Pharmacodynamics

Platinum Pathway, Pharmacokinetics/Pharmacodynamics

1.00

Mineral absorption

Mineral absorption

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for ATP7A

	Transmembrane transport of small molecules
	Ion channel transport
	Ion transport by P-type ATPases

1 PharmGKB Pathway for ATP7A

Platinum Pathway, Pharmacokinetics/Pharmacodynamics

1 Kegg Pathway (Kegg details for ATP7A):

Mineral absorption

ATP7A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATP7A

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for ATP7A (Q04656^{2, 3} ENSP00000345728⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDZD11	Q5EBL8²^,³, ENSP00000239666⁴	MINT-65999 MINT-1889644 MINT-1889694 MINT-1889721 MINT-66001 MINT-66000 I2D: score=2 STRING: ENSP00000239666
GLRX	P35754³, ENSP00000237858⁴	I2D: score=1 STRING: ENSP00000237858
ATOX1	O00244³, ENSP00000316854⁴	I2D: score=3 STRING: ENSP00000316854
CP	P00450³, ENSP00000264613⁴	I2D: score=1 STRING: ENSP00000264613
DYNC1H1	Q14204³	I2D: score=1

About this table

Gene Ontology (GO): 5/51 biological process terms (GO ID links to tree view) (see all 51): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	ISS	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001836	release of cytochrome c from mitochondria	IEA	--
GO:0001974	blood vessel remodeling	ISS	--
GO:0002082	regulation of oxidative phosphorylation	ISS	--

ATP7A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP7A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATP7A

6 HMDB Compounds for ATP7A About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Copper	Cu (see all 2)	7440-50-8	--
Ondansetron	Ondansetron (see all 4)	99614-02-5	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for ATP7A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cisplatin	Cis-DDP (see all 4)	15663-27-1	transporter	substrate	18998134 19075668

10/17 Novoseek chemical compound relationships for ATP7A gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
copper	87.7	567	14640979 (9), 18356322 (7), 11092760 (7), 17483305 (6) (see all 99)
copper histidine	86.2	1	11936860 (1)
copper(i)	69.8	11	16172131 (3), 17545667 (3), 16083905 (2), 15670166 (2) (see all 5)
acyl phosphate	66.3	1	9257713 (1)
oxaliplatin	52.3	10	16773204 (2), 15269138 (1), 18030470 (1), 17609664 (1) (see all 5)
platinum	50.8	25	15269138 (6), 16775422 (1), 17318448 (1), 18030470 (1) (see all 8)
cisplatin	45.6	36	19075668 (3), 17695505 (3), 18545997 (2), 14676106 (1) (see all 15)
carboplatin	36.3	2	14676106 (1), 15269138 (1)
monensin	30.3	2	19075668 (1), 14668139 (1)
atp	18.4	4	19917612 (2)

2 PharmGKB related drug/compound annotations for ATP7A gene

Drug/compound	PharmGKB Annotation
docetaxel	CA
thalidomide	CA

About this table

Search CenterWatch for drugs/clinical trials and news about ATP7A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP7A gene:

NM_000052.5

Unigene Cluster for ATP7A:

ATPase, Cu++ transporting, alpha polypeptide

Hs.496414 [show with all ESTs]

Unigene Representative Sequence: NM_000052

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000341514(uc004ecx.4) ENST00000343533(uc004ecw.2) ENST00000350425(uc004ecv.2)

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Additional cDNA sequence:

AB117973.1 AK299449.1 L06133.1 L06476.1

3 DOTS entries:

DT.113626 DT.95363112 DT.91909488

24/69 AceView cDNA sequences (see all 69):

AA232726 AU100216 BF116191 BX503903 CB105184 CR605420 BE892250 AI819441

AU077161 T27717 BG943539 BF437097 BP364137 AI379028 BX112297 BF512393

AB117973 BU608383 W57930 NM_000052 H96961 N31415 CO250189 BQ028110

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP7A About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^
SP1:							-																		-
SP2:							-
SP3:

ExUns:	24
SP1:
SP2:
SP3:

ECgene alternative splicing isoforms for ATP7A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP7A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATTGATCA

About this image
See ATP7A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP7A

SOURCE GeneReport for Unigene cluster: Hs.496414

UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656

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

SABiosciences Expression via Pathway-Focused PCR Array including ATP7A:

Drug Transporters in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ATP7A gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NUA1_CHICK⁶	Uncharacterized protein	73(a)	1 ↔ 1	4(13002692-13027991)
lizard (Anolis carolinensis)	Reptilia	ATP7A⁶	--	71(a)	1 ↔ 1	GL343420.1(695860-738572)
zebrafish (Danio rerio)	Actinopterygii	atp7a¹	ATPase, Cu++ transporting, alpha polypeptide	63.83(n) 66.55(a)		564924 NM_001042720.1 NP_001036185.1
fruit fly (Drosophila melanogaster)	Insecta	CG1886³	copper-exporting ATPase	47(a)		10F2 --
worm (Caenorhabditis elegans)	Secernentea	cua-1¹	Protein CUA-1	52.29(n) 48.05(a)		176770 NM_067377.2 NP_499778.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CCC2¹	Ccc2p	47.95(n) 37.62(a)		851862 NP_010556.1
thale cress (Arabidopsis thaliana)	eudicotyledons	HMA5¹	Cu2+-exporting ATPase	51.54(n) 44.61(a)		842650 NM_105023.1 NP_176533.1
rice (Oryza sativa)	Liliopsida	Os02g0196600¹	hypothetical protein	50.91(n) 46.51(a)		4328616 NM_001052728.1 NP_001046193.1
E. coli (Escherichia coli)	Gamma proteobacteria	copA⁶	copper transporter	32(a)	possible ortholog	Chromosome(508099-510603)

ENSEMBL Gene Tree for ATP7A (if available)
TreeFam Gene Tree for ATP7A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATP7A gene

ATP7B²

1 SIMAP similar gene for ATP7A using alignment to 2 protein entries: ATP7A_HUMAN (see all proteins):

ATP7B

ATP7A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs151340631^1,2	C	pathogenic	77266713(+)	`TCGGTC/G/TAGCAA`	3	S * L	stg¹ mis¹		0	--	--	--	--
rs72554649^1,2	C	pathogenic	77284768(+)	`TCTCCC/TGAACA`	2	R *	stg¹		0	--	--	--	--
rs72554652^1,2	C	pathogenic	77284886(+)	`AGTAGA/GTGCTC`	2	D G	mis¹		0	--	--	--	--
rs185955096^1,2		--	77164334(+)	`AAAATA/GTATAT`	1	--	us2k¹		0	--	--	--	--
rs189215195^1,2		--	77165070(+)	`ACAGAC/TACTTC`	1	--	us2k¹		0	--	--	--	--
rs181041819^1,2		--	77165103(+)	`CACATC/TTTGCT`	1	--	us2k¹		0	--	--	--	--
rs185461381^1,2		--	77165119(+)	`ATAAGG/TGAGAT`	1	--	us2k¹		0	--	--	--	--
rs3810660^1,2	C,	--	77165280(-)	`AATGAA/GATGCA`	1	--	us2k¹		0	--	--	--	--
rs190266958^1,2		--	77165493(+)	`TGTAAC/TTTTTC`	1	--	us2k¹		0	--	--	--	--
rs182832803^1,2		--	77165669(+)	`TCTTGA/GCAGTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ATP7A (77166194 - 77305892 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATP7A
1 CNV: 4156
Human Gene Mutation Database (HGMD): ATP7A

Locus Specific Mutation Databases (LSDB): ATP7A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP7A

DNA2.0 Custom Variant and Variant Library Synthesis for ATP7A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATP7A for disorders           About GeneDecksing

OMIM gene information: 300011
OMIM disorders: 309400  304150  300489
UniProtKB/Swiss-Prot: ATP7A_HUMAN, Q04656

Defects in ATP7A are the cause of Menkes disease (MNKD) [MIM:309400]; also known as kinky hair disease. MNKD

is 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

Defects in ATP7A are the cause of occipital horn syndrome (OHS) [MIM:304150]; also known as X-linked cutis

laxa. OHS is an X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance,

skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities included 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

Defects in ATP7A are a cause of distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]. DSMAX3

is 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

20/43 diseases for ATP7A (see all 43): About MalaCards

occipital horn syndrome menkes disease spinal muscular atrophy, distal, x-linked 3 cutis laxa

spinal muscular atrophy hailey-hailey disease inclusion body myopathy distal hereditary motor neuropathy

connective tissue disease muscular atrophy motor neuronopathy sensorineural hearing loss

bladder diverticulum hearing loss wilson disease sialuria

cerebellar degeneration hair disease neurodegenerative disease congenital cataracts

3 diseases from the University of Copenhagen DISEASES database for ATP7A:

Wilson disease Menkes disease Autosomal recessive disease

10/17 Novoseek disease relationships for ATP7A gene (see all 17) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
menkes disease	98.5	154	14635105 (3), 11431706 (3), 11043517 (3), 12221109 (2) (see all 99)
occipital horn syndrome	96	25	11936860 (2), 8923001 (2), 12594858 (2), 11431706 (2) (see all 15)
wilson disease	87	31	15634671 (3), 8921375 (1), 9359859 (1), 12181646 (1) (see all 24)
inclusion body myopathy	51.6	2	15987957 (1), 16550921 (1)
neurodegenerative diseases	46.4	10	17003121 (1), 18316734 (1), 18256395 (1), 15634671 (1) (see all 10)
neurodegeneration	39	2	16549268 (1), 16137991 (1)
connective tissue diseases	35.2	1	8923001 (1)
ovarian carcinoma	26	6	14676106 (3), 15269138 (2)
ovarian cancer	9.3	2	19296535 (1), 19470734 (1)
developmental delay	4.31	1	16098018 (1)

GeneTests: ATP7A

Human Genome Epidemiology (HuGE) Navigator: ATP7A (1 document)

Export disorders for ATP7A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATP7A gene, integrated from 9 sources (see all 245):
(articles sorted by number of sources associating them with ATP7A)

Utopia: connect your pdf to the dynamic
world of online information

Mutation spectrum of ATP7A, the gene defective in Menkes disease. (PubMed id 10079817)^{1, 2, 3, 9} Tuemer Z.... Horn N. (1999)
The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di- leucine endocytic signal. (PubMed id 10484781)^{1, 2, 9} Petris M.J. and Mercer J.F.B. (1999)
Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. (PubMed id 9147644)^{1, 2, 9} Dierick H.A.... Glover T.W. (1997)
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (PubMed id 11431706)^{1, 2, 9} Dagenais S.L.... Glover T.W. (2001)
Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA. (PubMed id 9693104)^{1, 2, 9} Reddy M.C. and Harris E.D. (1998)
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. (PubMed id 15981243)^{1, 2, 9} Moeller L.B.... Horn N. (2005)
Molecular structure of the Menkes disease gene (ATP7A). (PubMed id 7490081)^{1, 2, 9} Dierick H.A.... Mercer J.F.B. (1995)
Missense mutations in the copper transporter gene ATP 7A cause X-linked distal hereditary motor neuropathy. (PubMed id 20170900)^{1, 2, 9} Kennerson M.L....Garbern J.Y. (2010)
Functional copper transport explains neurologic sparing in occipital horn syndrome. (PubMed id 17108763)^{1, 2, 9} Tang J....Kaler S.G. (2006)
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (PubMed id 11241493)^{1, 2, 9} Gu Y.-H.... Lee C.-C. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 538	HGNC: 869	AceView: ATP7A	Ensembl:ENSG00000165240	euGenes: HUgn538
ECgene: ATP7A	Kegg: 538	H-InvDB: ATP7A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATP7A	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP7A
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt079.shtml

Intellectual Property for ATP7A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ATP7A gene:
Search GeneIP for patents involving ATP7A

GeneCards and IP:
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ATP7A Gene

ATPase, Cu++ transporting, alpha polypeptide

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ATP7A Gene

ATPase, Cu++ transporting, alpha polypeptide

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