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ABCC6 ATP binding cassette subfamily C member 6 [ Homo sapiens (human) ]

Gene ID: 368, updated on 12-Jun-2020

Summary

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Official Symbol
ABCC6provided by HGNC
Official Full Name
ATP binding cassette subfamily C member 6provided by HGNC
Primary source
HGNC:HGNC:57
See related
Ensembl:ENSG00000091262 MIM:603234
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056
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]
Expression
Biased expression in liver (RPKM 16.7), kidney (RPKM 9.5) and 9 other tissues See more
Orthologs
mouse all

Genomic context

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See ABCC6 in Genome Data Viewer
Location:
16p13.11
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (16149565..16223617, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16243422..16318083, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C member 1 Neighboring gene Sharpr-MPRA regulatory region 4662 Neighboring gene ribosomal protein L17 pseudogene 40 Neighboring gene uncharacterized LOC105371100 Neighboring gene NODAL modulator 3 Neighboring gene Sharpr-MPRA regulatory region 11301 Neighboring gene uncharacterized LOC105371099 Neighboring gene microRNA 3179-2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype. Khan FF, et al. Mol Biol Rep, 2019 Feb. PMID 30805891
  2. Structural characterization of the L0 cytoplasmic loop of human multidrug resistance protein 6 (MRP6). Ostuni A, et al. Biochim Biophys Acta Biomembr, 2019 Feb 1. PMID 30423326
  3. Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum. Sun Q, et al. Acta Ophthalmol, 2019 May. PMID 30328268
  4. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke. De Vilder EYG, et al. Brain Pathol, 2018 Nov. PMID 29722917, Free PMC Article
  5. ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. Bertamino M, et al. Eur J Paediatr Neurol, 2018 Jul. PMID 29709427

See all (128) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Six disease causing amino acid mutations in human MRP6 are a normal feature of abcc6 in fish, suggesting they do not have a deleterious effect on the protein.
    Title: Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates.
  2. the L0 cytoplasmic loop of human multidrug resistance protein 6 was characterized.
    Title: Structural characterization of the L0 cytoplasmic loop of human multidrug resistance protein 6 (MRP6).
  3. A novel homozygous frameshift variant in ABCC6(c.1799_1805dupGTCTGGT) was identified in one family and two previously reported missense variants (c.2294G > A and c.2974G > A) in compound heterozygous form in the other family.
    Title: Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
  4. Study shows that ABCC6 loss of function in pseudoxanthoma elasticum PXE has a profound impact on vascular purine metabolism through modified arterial gene expression, soluble nucleotidase activities, and, finally, circulating nucleotide levels.
    Title: Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.
  5. This study identified heterozygous ABCC6 variants as a risk factor for ischemic stroke.
    Title: Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
  6. Pilot study examined 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5'-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PPi) and inorganic phosphate (Pi) metabolism, which may predispose to coronary arterial or valvular calcification; report 4 new genetic variants potentially related to coronary calcification.
    Title: Genetic variants in cardiac calcification in Northern Sweden.
  7. The novel ABCC6 splicing mutation c.1177-2A>G results in multiple splicing patterns. Endogenous U2 to U12 conversion may occur in humans in a disease state. Peripheral blood mononuclear cells can be reliably used to study ABCC6 RNA.
    Title: Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum.
  8. Serum levels of MRP8/MRP14 and MRP6 were up-regulated in patients with Graves' disease (GD) and Hashimoto's thyroiditis (HT). In addition, mRNA expression of MRP proteins in PBMCs and the thyroid gland was markedly elevated in these patients.
    Title: Myeloid related proteins are up-regulated in autoimmune thyroid diseases and activate toll-like receptor 4 and pro-inflammatory cytokines in vitro.
  9. High URG7 reduces the ER stress by decreasing the amount of unfolded proteins, by increasing both the total protein ubiquitination and the AKT activation and reducing Caspase 3 activation.
    Title: New insights on the functional role of URG7 in the cellular response to ER stress.
  10. Two compound heterozygous ABCC6 loss-of-function mutations, c.4182_4182delG (p.Lys1394Asnfs*9) and c.2900G > A (p.Trp967*), were found
    Title: ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
  
ATPase activity IEA
Inferred from Electronic Annotation
more info
  
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transporter activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
response to drug TAS
Traceable Author Statement
more info
 PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
  
visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
  
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
  
membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
  
plasma membrane IDA
Inferred from Direct Assay
more info
  
plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
multidrug resistance-associated protein 6; URG7 protein
Names
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
anthracycline resistance-associated protein
multi-specific organic anion transporter E

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.

Genomic

  1. NG_007558.2 RefSeqGene

    Range
    5001..78907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079528.4 → NP_001072996.1  URG7 protein isoform 2

    See identical proteins and their annotated locations for NP_001072996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks much of the coding region and represents a distinct 3' UTR compared to variant 1. The encoded protein (isoform 2) is much shorter and has a distinct C-terminus compared to isoform 1. The encoded protein is not a transporter, but is thought to play a role in protecting hepatocytes during chronic hepatitis B virus infection.
    Source sequence(s)
    AY078405, BC050733
    Consensus CDS
    CCDS58430.1
    UniProtKB/Swiss-Prot
    O95255
    Related
    ENSP00000461686.1, ENST00000575728.1
    Conserved Domains (1) summary
    TIGR00957
    Location:14 → 74
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)

  2. NM_001171.6 → NP_001162.5  multidrug resistance-associated protein 6 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC136624
    Consensus CDS
    CCDS10568.1
    Related
    ENSP00000205557.7, ENST00000205557.11

  3. NM_001351800.1 → NP_001338729.1  multidrug resistance-associated protein 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC136624, AF076622, AI074459, BC131732
    Conserved Domains (1) summary
    cl26602
    Location:1 → 1388
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RNA

  1. NR_147784.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC136624, AF076622, AI074459, AM711638
    Related
    ENST00000456970.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    16149565..16223617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450261.1 → XP_024306029.1  multidrug resistance-associated protein 6 isoform X6

    Conserved Domains (1) summary
    cl26602
    Location:14 → 1514
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

  2. XM_017023212.1 → XP_016878701.1  multidrug resistance-associated protein 6 isoform X2

  3. XM_011522479.2 → XP_011520781.1  multidrug resistance-associated protein 6 isoform X1

    Conserved Domains (5) summary
    TIGR00957
    Location:14 → 1491
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:1252 → 1472
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:629 → 818
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    pfam16185
    Location:27 → 146
    MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    cl00549
    Location:940 → 1205
    ABC_membrane; ABC transporter transmembrane region

  4. XM_011522480.1 → XP_011520782.1  multidrug resistance-associated protein 6 isoform X3

    See identical proteins and their annotated locations for XP_011520782.1

    Conserved Domains (4) summary
    TIGR00957
    Location:1 → 1388
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:1149 → 1369
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:515 → 715
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    cl00549
    Location:837 → 1102
    ABC_membrane; ABC transporter transmembrane region

  5. XM_011522481.3 → XP_011520783.1  multidrug resistance-associated protein 6 isoform X3

    See identical proteins and their annotated locations for XP_011520783.1

    Conserved Domains (4) summary
    TIGR00957
    Location:1 → 1388
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:1149 → 1369
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:515 → 715
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    cl00549
    Location:837 → 1102
    ABC_membrane; ABC transporter transmembrane region

  6. XM_017023214.1 → XP_016878703.1  multidrug resistance-associated protein 6 isoform X4

  7. XM_011522482.3 → XP_011520784.1  multidrug resistance-associated protein 6 isoform X5

    Related
    ENSP00000483331.1, ENST00000622290.4
    Conserved Domains (4) summary
    cd03250
    Location:629 → 829
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1132
    Location:296 → 845
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam16185
    Location:27 → 146
    MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    cl00549
    Location:315 → 578
    ABC_membrane; ABC transporter transmembrane region

RNA

  1. XR_932837.3 RNA Sequence

  2. XR_932838.3 RNA Sequence

  3. XR_932836.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1807491..1881489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95255.2 GenPept UniProtKB/Swiss-Prot:O95255

Gene LinkOut

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