Abcc6 ATP-binding cassette, sub-family C member 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcc6provided by MGI
Official Full Name: ATP-binding cassette, sub-family C member 6provided by MGI
Primary source: MGI:MGI:1351634
See related: Ensembl:ENSMUSG00000030834 AllianceGenome:MGI:1351634
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DCC; Mrp6; Abcc1b; dyscalc; Dyscalc1
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). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver adult (RPKM 33.2), liver E18 (RPKM 7.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 29.64 cM; 7 B3

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45625804..45679915, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45974110..46030491, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury.
Title: Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury.
Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Title: Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Title: ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
Title: Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
Abcc6 was confirmed as a major determinant for ectopic mineralization in multiple tissues. Integrative analysis using functional genomics tools that included GeneWeaver, String, and Mouse Genome Informatics identified a total of nine additional candidate modifier genes that could influence the organ-specific ectopic mineralization phenotypes
Title: Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.
Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolically active tissues.
Title: Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.
abrogated ABCC6 function does cause alterations in the metabolic profile of the liver in accordance with PXE being a metabolic disease originating from liver disturbance
Title: Untargeted Metabolomics Analysis of ABCC6-Deficient Mice Discloses an Altered Metabolic Liver Profile.
bisphosphonates may be helpful for prevention of mineral deposits in Pseudoxanthoma elasticum and generalized arterial calcification of infancy caused by mutations in the ABCC6 gene.
Title: The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.
In a mouse model of CKD, ABCC6 protein expression was decreased in liver and kidney, however mRNA levels were unchanged.
Title: Chronic kidney disease results in deficiency of ABCC6, the novel inhibitor of vascular calcification.
In the Abcc6(-/-) genotype, dermal fibroblasts actively contribute to changes that promote matrix calcification; these cells can be further modulated with time by the calcified environment, contributing to the age-dependent progression.
Title: Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissue mineralization.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Associated conditions

Description	Tests
dystrophic cardiac calcinosis 1 GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Not Applicable (1) 1 citation
QTL (8) 1 citation
Spontaneous (1) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

D7Mit229 (e-PCR), detects polymorphism
- UniSTS:131122

G67881 (e-PCR)
- UniSTS:225592

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type glutathione S-conjugate transporter activity	ISO Inferred from Sequence Orthology more info
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ABC-type xenobiotic transporter activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables inorganic diphosphate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in ATP transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in gene expression	ISO Inferred from Sequence Orthology more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic diphosphate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in inorganic diphosphate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic diphosphate transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular phosphate ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular phosphate ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in leukotriene transport	ISO Inferred from Sequence Orthology more info
involved_in phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphate ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in response to magnesium ion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to magnesium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to sodium phosphate	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to sodium phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in extracellular region	ISO Inferred from Sequence Orthology more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 6

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 6; multidrug resistance-associated protein 6

NP_061265.2

EC 7.6.2.3

XP_006541009.1

EC 7.6.2.3

XP_006541010.1

EC 7.6.2.3

XP_006541011.1

EC 7.6.2.3

XP_006541012.1

EC 7.6.2.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018795.2 → NP_061265.2 ATP-binding cassette sub-family C member 6

See identical proteins and their annotated locations for NP_061265.2

Status: REVIEWED

Source sequence(s)

AC115036

Consensus CDS

CCDS21272.1

UniProtKB/Swiss-Prot

A2TAJ0, A2TAJ1, F8VPT2, Q80YB6, Q9R1S7

Related

ENSMUSP00000002850.6, ENSMUST00000002850.8

Conserved Domains (5) summary

TIGR00957
Location:33 → 1497

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

cd03244
Location:1258 → 1478

ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

cd03250
Location:627 → 828

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

pfam16185
Location:21 → 148

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region

cl00549
Location:946 → 1211

ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

45625804..45679915 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540946.4 → XP_006541009.1 ATP-binding cassette sub-family C member 6 isoform X1

Conserved Domains (1) summary

TIGR00957
Location:101 → 1465

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006540947.5 → XP_006541010.1 ATP-binding cassette sub-family C member 6 isoform X2

Conserved Domains (1) summary

TIGR00957
Location:101 → 1222

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006540948.5 → XP_006541011.1 ATP-binding cassette sub-family C member 6 isoform X3

Conserved Domains (1) summary

TIGR00957
Location:101 → 886

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006540949.4 → XP_006541012.1 ATP-binding cassette sub-family C member 6 isoform X4

Conserved Domains (1) summary

TIGR00957
Location:101 → 815

MRP_assoc_pro; multi drug resistance-associated protein (MRP)