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

Gene ID: 27421, updated on 21-Apr-2024

Summary

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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

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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_000073.7Genomic Context describing neighboring genes Neighboring gene outer dynein arm docking complex subunit 1 Neighboring gene ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g pseudogene Neighboring gene STARR-seq mESC enhancer starr_18859 Neighboring gene predicted gene, 45983 Neighboring gene nodal modulator 1 Neighboring gene predicted gene, 39010 Neighboring gene erythrocyte protein band 4.1-like 5 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum. Plümers R, et al. Biomolecules, 2023 Apr 12. PMID 37189419, Free PMC Article
  2. Vitamin D and Calcium Supplementation Accelerate Vascular Calcification in a Model of Pseudoxanthoma Elasticum. Bouderlique E, et al. Int J Mol Sci, 2022 Feb 19. PMID 35216422, Free PMC Article
  3. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. Huang J, et al. J Invest Dermatol, 2022 Aug. PMID 35143822, Free PMC Article
  4. Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice. Ibold B, et al. Sci Rep, 2021 Jan 22. PMID 33483533, Free PMC Article
  5. Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension. Omarjee L, et al. Sci Rep, 2019 Nov 8. PMID 31704980, Free PMC Article

See all (88) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury.
    Title: Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury.
  2. 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.
  3. ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
    Title: ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
  4. Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
    Title: Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

General gene information

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Markers

Homology

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
XP_006541009.1
XP_006541010.1
XP_006541011.1
XP_006541012.1

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)

  1. 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

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    45625804..45679915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

RNA

  1. XR_391346.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9R1S7.3 GenPept UniProtKB/Swiss-Prot:Q9R1S7

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