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

Gene ID: 368, updated on 14-Oct-2018

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; Vega:OTTHUMG00000129967
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

Genomic context

See ABCC6 in Genome Data Viewer
Location:
16p13.11
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC107984869 Neighboring gene ribosomal protein L15 pseudogene 20 Neighboring gene ATP binding cassette subfamily C member 1 Neighboring gene ribosomal protein L17 pseudogene 40 Neighboring gene uncharacterized LOC105371100 Neighboring gene NODAL modulator 3 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding 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 
ATPase-coupled anion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001079528.4NP_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, OTTHUMP00000256353, ENST00000575728.1
    Conserved Domains (1) summary
    TIGR00957
    Location:1474
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
  2. NM_001171.5NP_001162.4  multidrug resistance-associated protein 6 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF076622, AI074459, BC131732, DC361874
    Consensus CDS
    CCDS10568.1
    UniProtKB/Swiss-Prot
    O95255
    Related
    ENSP00000205557.7, OTTHUMP00000160427, ENST00000205557.11, OTTHUMT00000252232
    Conserved Domains (5) summary
    TIGR00957
    Location:141502
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:12631483
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:629829
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    pfam16185
    Location:27146
    MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    cl00549
    Location:9511216
    ABC_membrane; ABC transporter transmembrane region
  3. NM_001351800.1NP_001338729.1  multidrug resistance-associated protein 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC136624, AF076622, AI074459, BC131732
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl26602
    Location:141514
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. XM_017023212.1XP_016878701.1  multidrug resistance-associated protein 6 isoform X2

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

    Conserved Domains (5) summary
    TIGR00957
    Location:141491
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:12521472
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:629818
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    pfam16185
    Location:27146
    MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    cl00549
    Location:9401205
    ABC_membrane; ABC transporter transmembrane region
  4. XM_011522480.1XP_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:11388
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:11491369
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:515715
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    cl00549
    Location:8371102
    ABC_membrane; ABC transporter transmembrane region
  5. XM_011522481.3XP_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:11388
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    cd03244
    Location:11491369
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:515715
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    cl00549
    Location:8371102
    ABC_membrane; ABC transporter transmembrane region
  6. XM_017023214.1XP_016878703.1  multidrug resistance-associated protein 6 isoform X4

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

    Related
    ENSP00000483331.1, OTTHUMP00000256351, ENST00000622290.4
    Conserved Domains (4) summary
    cd03250
    Location:629829
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1132
    Location:296845
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam16185
    Location:27146
    MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    cl00549
    Location:315578
    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.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    1807491..1881466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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