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

    Gene ID: 368, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    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_001079528.4NP_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:1474
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. NM_001171.6NP_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:141502
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    3. NM_001351800.1NP_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:11388
      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)