ATP7A - ATPase copper transporting alpha Gene

Also Known as MK; MNK; DSMAX; SMAX3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 538

About ATP7A

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:77,910,693-78,050,395 (from NCBI)

This gene has 57 transcripts (splice variants), 218 orthologues, 21 paralogues and is associated with 10 phenotypes. Ubiquitous expression in skin (RPKM 5.4), thyroid (RPKM 2.9) and 25 other tissues.

Summary

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 distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

ATP7A Products (2)

mRNA	Protein	Name
NM_000052.7	NP_000043.4	copper-transporting ATPase 1 isoform 1
NM_001282224.2	NP_001269153.1	copper-transporting ATPase 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP binding	IDA IDA: Inferred from direct assay	19917612	GOA
enables P-type monovalent copper transporter activity	IDA IDA: Inferred from direct assay	10419525	GOA
enables copper ion binding	IDA IDA: Inferred from direct assay	15670166	GOA
enables copper-dependent protein binding	IDA IDA: Inferred from direct assay	31283225	GOA
enables copper-dependent protein binding	IPI IPI: Inferred from physical interaction	10497213	GOA
enables cuprous ion binding	IDA IDA: Inferred from direct assay	31283225	GOA
enables cuprous ion binding	IMP IMP: Inferred from mutant phenotype	14572476	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16051599	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in copper ion export	IDA IDA: Inferred from direct assay	10419525	GOA
involved in copper ion transport	IMP IMP: Inferred from mutant phenotype	11092760	GOA
involved in intracellular copper ion homeostasis	IMP IMP: Inferred from mutant phenotype	16397091	GOA
involved in positive regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	11092760	GOA
involved in positive regulation of tyrosinase activity	IMP IMP: Inferred from mutant phenotype	11092760	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9467005	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	16397091	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	9467005	GOA
located in late endosome	IDA IDA: Inferred from direct assay	8943055	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	8943055	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12812980	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	8943055	GOA
located in trans-Golgi network transport vesicle	IMP IMP: Inferred from mutant phenotype	9817923	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP7A Protein Structure

HMA

E1-E2_ATPase

Hydrolase

0
300
600
900
1200
1500 a.a.

Protein Preferred Names	Protein Names
copper-transporting ATPase 1	ATPase, Cu++ transporting, alpha polypeptide

ATP7A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ATP7A	Q04656	PDZD11	Homo sapiens	Q5EBL8	Anti Tag CoIP	16051599
Intra	ATP7A	Q04656	PDZD11	Homo sapiens	Q5EBL8	Y2H	16051599
Intra	ATP7A	Q04656	DBH	Homo sapiens	P09172	Crosslink	26199316

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Menkes Disease	Copper Transport Disease Menkes Syndrome MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Spinal Muscular Atrophy, Distal, X-Linked 3	SMAX3 Dsmax X-Linked Distal Spinal Muscular Atrophy Type 3 X-Linked Distal Spinal Muscular Atrophy 3 Atp7a-Related Distal Motor Neuropathy X-Linked Dhmn3 X-Linked Distal Hereditary Motor Neuropathy Type 3 X-Linked Dsma3 Spinal Muscular Atrophy, Distal, X-Linked Recessive X-Linked Recessive Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy, X-Linked, 3 DSMAX3 Spinal Muscular Atrophy Distal X-Linked Recessive Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Disorder Of Copper Metabolism
Mastocytosis, Cutaneous	Urticaria Pigmentosa Cutaneous Mastocytosis Diffuse Cutaneous Mastocytosis Maculopapular Cutaneous Mastocytosis Mastocytosis, Diffuse Cutaneous MASTC Mastocytosis, Maculopapular Cutaneous Mastocytosis, Systemic, Somatic Mastocytoma Dcm Diffuse Cutaneous Maculopapulous Mastocytosis Up/Mpcm Cm Mastocytosis, Systemic MASTSYS Mast Cell Disease Mast-Cell Disease Mast Cell Leukemia Mastocytosis, Indolent Mastocytosis With Associated Hematologic Disorder Mast Cell Neoplasm Benign Mastocytoma
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	Distal Spinal Muscular Atrophy Type 3 DSMA3 Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 Dhmn3 And Dhmn4 Distal Hereditary Motor Neuropathy Type 3 And Type 4 Neuronopathy, Distal Hereditary Motor, Type Iv Hmn4 Dhmn4 Neuropathy, Distal Hereditary Motor, Type Iv Hmn Iv Neuronopathy, Distal Hereditary Motor, Type Iii Hmn3 Dhmn3 Hmn Iii
Bladder Diverticulum	Diverticulum Of Bladder Diverticulum - Bladder Bladder Diverticula Vesical Diverticulum Bladder Sacculation
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Copper Deficiency Myelopathy	Swayback Human Swayback
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Adhesive Otitis Media	Adhesive Middle Ear Disease Chronic Adhesive Otitis Media Adhesive Otitis Fibrotic Adhesive Otitis Media Adhesive Disorder Of Middle Ear
Sialuria	Sialuria, French Type French Type Sialuria Sialuria French Type Sialic Acid Storage Disease Sialic Acid Storage Disease, Finnish Type Infantile Sialic Acid Storage Disease
Mast-Cell Leukemia	Mast Cell Leukemia Leukemia, Mast-Cell Leukemia Mast Cell Mast Cell Leukaemia Nos Mast Cell Leukaemia Without Mention Of Remission
Discitis
Purulent Acute Otitis Media	Acute Suppurative Otitis Media Acute Or Subacute Suppurative Otitis Media Acute Or Subacute Purulent Otitis Media
Indolent Systemic Mastocytosis	Ism
Mast Cell Neoplasm	Mastocytoma Mast Cell Proliferative Disease Mast Cell Tumor Benign Mastocytoma
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Aggressive Systemic Mastocytosis	Asm Lymphadenopathic Mastocytosis With Eosinophilia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Systemic Mastocytosis	Systemic Mast Cell Disease Systemic Tissue Mast Cell Disease Mastocytosis, Systemic Smcd - Systemic Mast Cell Disease Smcd Mast Cell Disease, Systemic Systemic Mast-Cell Disease Systemic Mastocytoses Mastocytosis Systemic Corneal Dystrophy, Subepithelial Mucinous Smcd - [Systemic Mast Cell Disease]
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Dopamine Beta-Hydroxylase Deficiency	Noradrenaline Deficiency Norepinephrine Deficiency Dopamine Beta Hydroxylase Deficiency Congenital Dopamine Beta-Hydroxylase Deficiency Dopamine Beta-Hydroxylase Deficiency, Congenital Dopamine Β-Hydroxylase Dbh Deficiency
Spinal Muscular Atrophy, Type Iii	SMA3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease Sma Iii Kugelberg-Welander Syndrome Kws Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Mild Childhood And Adolescent Form Spinal Muscular Atrophy-3 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy, Type Iii, Modifier Of Type Iii Spinal Muscular Atrophy Sma 3 Proximal Spinal Muscular Atrophy Type 3 Sma Type 3 Sma Type Iii Sma-Iii Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Mild Childhood And Adolescent Form Spinal Muscular Atrophy Type Iii Wohlfart-Kugelberg-Welander Disease Atrophy, Muscular, Spinal, Type Iii
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Persistent Mild Asthma
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01235	ATP7A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17972	Atp7a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-D3282	CCF1		/	Unkown
HY-RS17601	Atp7b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24443	Atp7a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATP7A	VGNC	VGNC:38285
Felis catus	ATP7A	VGNC	VGNC:68721
Mus musculus	ATP7A	MGD	MGI:99400
Bos taurus	ATP7A	VGNC	VGNC:26327
Rattus norvegicus	ATP7A	RGD	RGD:2179
Others	ATP7A	NCBI