ABCC6 - ATP binding cassette subfamily C member 6 Gene

Also Known as ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 368

About ABCC6

Cytogenetic location: 16p13.11 Genomic coordinates (GRCh38): 16:16,149,565-16,223,494 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 166 orthologues, 11 paralogues and is associated with 7 phenotypes. Biased expression in liver (RPKM 16.7), kidney (RPKM 9.5) and 9 other tissues.

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

ABCC6 Products (3)

mRNA	Protein	Name
NM_001079528.4	NP_001072996.1	URG7 protein isoform 2
NM_001171.6	NP_001162.5	ATP-binding cassette sub-family C member 6 isoform 1
NM_001351800.1	NP_001338729.1	ATP-binding cassette sub-family C member 6 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type glutathione S-conjugate transporter activity	IDA IDA: Inferred from direct assay	11880368	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	11880368	GOA
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	11880368	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP metabolic process	IDA IDA: Inferred from direct assay	28592560	GOA
involved in ATP transport	IDA IDA: Inferred from direct assay	24277820	GOA
involved in calcium ion homeostasis	IDA IDA: Inferred from direct assay	28592560	GOA
involved in gene expression	IDA IDA: Inferred from direct assay	28592560	GOA
involved in leukotriene transport	IDA IDA: Inferred from direct assay	11880368	GOA
involved in phosphate ion homeostasis	IDA IDA: Inferred from direct assay	28592560	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basal plasma membrane	IDA IDA: Inferred from direct assay	35307651	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	12901863	GOA
is active in extracellular region	IDA IDA: Inferred from direct assay	28592560	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

ABCC6 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1503 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family C member 6 URG7 protein	ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family C member 6

URG7 protein

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Related Diseases

Diseases	Alias
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Arterial Calcification, Generalized, Of Infancy, 2	GACI2 Arterial Calcification Of Infancy, Generalized, 2 Calcification, Arterial, Generalized, Of Infancy, Type 2
Pseudoxanthoma Elasticum, Forme Fruste
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Arterial Calcification Of Infancy	Idiopathic Infantile Arterial Calcification Generalized Arterial Calcification Of Infancy Iiac Occlusive Infantile Arteriopathy Infantile Arteriosclerosis Gaci Idiopathic Obliterative Arteriopathy Generalized Arterial Calcification In Infancy Arteriopathia Calcificans Infantum Diffuse Arterial Calcifying Elastopathy Of Infancy Infantile Calcifying Arteriopathy Medial Coronary Sclerosis Of Infancy Coronary Sclerosis, Medial, Of Infancy Calcification, Arterial, Generalized, Infancy
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Angioid Streaks
Calcification Of Joints And Arteries	Hereditary Arterial And Articular Multiple Calcification Syndrome CALJA Arterial Calcification Due To Cd73 Deficiency Arterial Calcification Due To Deficiency Of Cd73 Acdc Arterial Calcification And Distal Joint Calcification Arterial Calcification Due To Deficiency Of Cd73:Acdc Calcification Of Joints And Arteries Calja
Macular Dystrophy, Patterned, 3	Martinique Crinkled Retinal Pigment Epitheliopathy Patterned Macular Dystrophy 3 MDPT3 Mcrpe
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Dubin-Johnson Syndrome	DJS Chronic Idiopathic Jaundice Jaundice, Chronic Idiopathic Hyperbilirubinemia, Dubin-Johnson Type Hyperbilirubinemia Ii Hyperbilirubinemia Type 2 Conjugated Hyperbilirubinemia Dubin-Sprinz Disease Sprinz-Nelson Syndrome Hblrdj Dubin Johnson Syndrome Hyperbilirubinemia 2 Black Liver-Jaundice Syndrome Chronic Idiopathic Jaundice With Pigmented Liver Dubin-Sprinz Syndrome Hyperbilirubinaemia Type 2 Djs - [Dubin-Johnson Syndrome]
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	VKCFD1 Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1 Vitamin K-Dependent Coagulation Defect Multiple Coagulation Factor Deficiency Iii Mcfd3 Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1 Vkcfd Familial Multiple Coagulation Factor Deficiency Iii Fmfd Iii Factors Ii, Vii, Ix, And X, Combined Deficiency Of Glutamic Acid, Deficient Gamma-Carboxylation Of
Tumoral Calcinosis, Normophosphatemic, Familial	Normophosphatemic Familial Tumoral Calcinosis NFTC Tumoral Calcinosis, Familial, Normophosphatemic Calcinosis, Tumoral, With Normophosphatemia Familial Normophosphatemic Tumoral Calcinosis Tumoral Calcinosis With Normophosphatemia
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Macular Degeneration, Age-Related, 2	Age Related Macular Degeneration 2 ARMD2 Macular Degeneration, Senile Maculopathy, Age-Related, 2 Macular Degeneration, Age-Related, 2, Susceptibility To Macular Degeneration, Age-Related, Type 2
Patterned Macular Dystrophy	Patterned Dystrophy Of Retinal Pigment Epithelium
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Carotid Artery Dissection	Dissection Of Carotid Artery
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	CADASIL2 Cadasil 2 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2 Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Htra1-Related Autosomal Dominant Cerebral Angiopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-183032	ABC transporter modulator-1	Activator	96.30%	Unkown
HY-183033	ABC transporter modulator-2	Activator	96.89%	Unkown
HY-183034	ABC transporter modulator-3	Activator	97.0%	Unkown
HY-183035	ABC transporter modulator-4	Modulator	/	Unkown
HY-183036	ABC transporter modulator-5	Modulator	/	Unkown
HY-RS00065	ABCC6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ABCC6	VGNC	VGNC:50200
Rattus norvegicus	ABCC6	RGD	RGD:620268
Felis catus	ABCC6	VGNC	VGNC:67729
Canis familiaris	ABCC6	VGNC	VGNC:54911
Mus musculus	ABCC6	MGD	MGI:1351634
Others	ABCC6	NCBI