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

    Gene ID: 368, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:57
    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
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    Genomic context

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    See ABCC6 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (16149565..16223494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (16154422..16229003, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16243422..16317351, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984869 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:16036240-16036407 Neighboring gene ribosomal protein L15 pseudogene 20 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16052042-16052542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16052543-16053043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16064032-16064671 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:16064672-16065310 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:16065311-16065950 Neighboring gene ATP binding cassette subfamily C member 1 (ABCC1 blood group) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16082729-16083392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:16084152-16084684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16085217-16085748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16085749-16086280 Neighboring gene Sharpr-MPRA regulatory region 4662 Neighboring gene Sharpr-MPRA regulatory region 7660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:16168601-16169318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16169319-16170035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16193601-16194102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16194103-16194602 Neighboring gene ribosomal protein L17 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:16225735-16226234 Neighboring gene Sharpr-MPRA regulatory region 15590 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:16280257-16280430 Neighboring gene NANOG hESC enhancer GRCh37_chr16:16294128-16294629 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 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. Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. Götting C, et al. Lab Invest, 2004 Jan. PMID 14631379
    2. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Miksch S, et al. Hum Mutat, 2005 Sep. PMID 16086317
    3. The gene family of ABC transporters--novel mutations, new phenotypes. Uitto J. Trends Mol Med, 2005 Aug. PMID 15996518
    4. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. Chassaing N, et al. J Med Genet, 2005 Dec. PMID 15894595, Free PMC Article
    5. Analysis of ABCC6 (MRP6) in normal human tissues. Beck K, et al. Histochem Cell Biol, 2005 Jun. PMID 15889270

    See all (150) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.
      Title: Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.
    2. The 75-99 C-Terminal Peptide of URG7 Protein Promotes alpha-Synuclein Disaggregation.
      Title: The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.
    3. CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.
      Title: CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.
    4. High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
      Title: High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
    5. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
      Title: The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
    6. ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.
      Title: ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.
    7. Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
      Title: Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
    8. 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.
    9. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
      Title: Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
    10. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
      Title: Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
    Submit: New GeneRIF Correction See all GeneRIFs (111)

    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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS 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
    enables ABC-type glutathione S-conjugate transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase-coupled inorganic anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ATP transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibition of non-skeletal tissue mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inorganic diphosphate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular phosphate ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in leukotriene transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphate ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to sodium phosphate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family C member 6; URG7 protein
    Names
    ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    anthracycline resistance-associated protein
    multi-specific organic anion transporter E
    multidrug resistance-associated protein 6
    NP_001072996.1
    NP_001162.5
    NP_001338729.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_007558.3 RefSeqGene

      Range
      5124..79053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1115

    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  ATP-binding cassette sub-family C member 6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC136624
      Consensus CDS
      CCDS10568.1
      UniProtKB/Swiss-Prot
      A2RRN8, A8KIG6, A8Y988, E7ESW8, O95255, P78420, Q8TCY8, Q9UMZ7
      UniProtKB/TrEMBL
      A0A0G2JMG3
      Related
      ENSP00000205557.7, ENST00000205557.12
      Conserved Domains (1) summary
      TIGR00957
      Location:14 → 1502
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    3. NM_001351800.1 → NP_001338729.1  ATP-binding cassette sub-family C member 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC136624, AF076622, AI074459, BC131732
      UniProtKB/TrEMBL
      A0A0G2JMG3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      16149565..16223494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1807491..1881489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      16154422..16229003 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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