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    ABCC11 ATP binding cassette subfamily C member 11 [ Homo sapiens (human) ]

    Gene ID: 85320, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ABCC11provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 11provided by HGNC
    Primary source
    HGNC:HGNC:14639
    See related
    Ensembl:ENSG00000121270 MIM:607040; AllianceGenome:HGNC:14639
    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
    WW; EWWD; MRP8
    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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 1.2), prostate (RPKM 0.5) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    16q12.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (48164819..48247539, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (53961650..54046163, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48199684..48281450, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10789 Neighboring gene ATP binding cassette subfamily C member 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48150856-48151718 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48156892-48158091 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48191888-48193087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48198931-48199432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48199433-48199932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7452 Neighboring gene Sharpr-MPRA regulatory region 3115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10791 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene NANOG hESC enhancer GRCh37_chr16:48317173-48317699 Neighboring gene Sharpr-MPRA regulatory region 13528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48353112-48353734 Neighboring gene NANOG hESC enhancer GRCh37_chr16:48370410-48370911 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48399426-48400088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48411713-48412214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7456 Neighboring gene siah E3 ubiquitin protein ligase 1

    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. Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population. Hara S, et al. Otolaryngol Head Neck Surg, 2022 Jan. PMID 33722103
    2. Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations. Wang Y, et al. Medicine (Baltimore), 2021 Jan 29. PMID 33530206, Free PMC Article
    3. Expression of ATP-binding Cassette Transporter 11 (ABCC11) Protein in Colon Cancer. Yamada Y, et al. Anticancer Res, 2020 Oct. PMID 32988860
    4. A functional single nucleotide polymorphism in ABCC11, rs17822931, is associated with the risk of breast cancer in Japanese. Ishiguro J, et al. Carcinogenesis, 2019 Jun 10. PMID 30883634
    5. A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene. Hori YS, et al. Hum Biol, 2017 Oct. PMID 30047321

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).
      Title: Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).
    2. Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
      Title: Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
    3. Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population.
      Title: Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population.
    4. MRP8/14 mediates macrophage efferocytosis through RAGE and Gas6/MFG-E8, and induces polarization via TLR4-dependent pathway.
      Title: MRP8/14 mediates macrophage efferocytosis through RAGE and Gas6/MFG-E8, and induces polarization via TLR4-dependent pathway.
    5. Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.
      Title: Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations.
    6. Expression of ATP-binding Cassette Transporter 11 (ABCC11) Protein in Colon Cancer.
      Title: Expression of ATP-binding Cassette Transporter 11 (ABCC11) Protein in Colon Cancer.
    7. Rs17822931, a functional single nucleotide polymorphism (SNP) in ABCC11, may play a role in the carcinogenesis.
      Title: A functional single nucleotide polymorphism in ABCC11, rs17822931, is associated with the risk of breast cancer in Japanese.
    8. here were significant differences in SNPs at rs1256061 of estrogen receptor beta gene and rs17822931, rs16945916 and rs62058521 in ABCC11 gene between the axillary osmidrosis patients and normal people
      Title: [Correlation between estrogen receptor β and ABCC11 gene single nucleotide polymorphisms and axillary osmidrosis].
    9. the differential expression pattern of ABCC11 and ABCB5 genes may serve as outliers, potentially associated with incidence of multifocal/multicentric breast cancer
      Title: Study of differential gene expression between invasive multifocal/ multicentric and unifocal breast cancer.
    10. The previous findings of a previously unreported homozygous genotype for both the Delta27 and A alleles suggest that the Delta27 deletion might have occurred in the A allele of ABCC11 gene with the 538G>A mutation.
      Title: A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.
    Submit: New GeneRIF Correction See all GeneRIFs (49)

    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

    Associated conditions

    Description Tests
    Apocrine gland secretion, variation in
    MedGen: C1861696 OMIM: 117800 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    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

    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 bile acid transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ABC-type glutathione S-conjugate transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ABC-type xenobiotic transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 organic anion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables purine nucleotide transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables purine nucleotide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in organic anion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in purine nucleotide transport IDA
    Inferred from Direct Assay
    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 xenobiotic transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family C member 11
    Names
    ATP-binding cassette protein C11
    ATP-binding cassette transporter MRP8
    ATP-binding cassette transporter sub-family C member 11
    ATP-binding cassette, sub-family C (CFTR/MRP), member 11
    multi-resistance protein 8
    multidrug resistance-associated protein 8
    NP_001357425.1
    NP_001357426.1
    NP_115972.2
    NP_149163.2
    NP_660187.1
    XP_011521700.1
    XP_016879286.1
    XP_016879287.1
    XP_016879288.1
    XP_016879289.1
    XP_016879290.1
    XP_016879291.1
    XP_024306243.1
    XP_047290774.1
    XP_054170187.1
    XP_054170188.1
    XP_054170189.1
    XP_054170190.1
    XP_054170191.1
    XP_054170192.1
    XP_054170193.1
    XP_054170194.1
    XP_054170195.1
    XP_054170196.1
    XP_054170197.1
    XP_054170198.1

    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_011522.2 RefSeqGene

      Range
      5000..86766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370496.1 → NP_001357425.1  ATP-binding cassette sub-family C member 11 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC007600, AC096996
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1373
      PLN03130; ABC transporter C family member; Provisional

    2. NM_001370497.1 → NP_001357426.1  ATP-binding cassette sub-family C member 11 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC007600, AC096996
      Consensus CDS
      CCDS10732.1
      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Related
      ENSP00000349017.2, ENST00000356608.7
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    3. NM_032583.4 → NP_115972.2  ATP-binding cassette sub-family C member 11 isoform a

      See identical proteins and their annotated locations for NP_115972.2

      Status: REVIEWED

      Source sequence(s)
      AC007600, AC096996
      Consensus CDS
      CCDS10732.1
      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    4. NM_033151.4 → NP_149163.2  ATP-binding cassette sub-family C member 11 isoform a

      See identical proteins and their annotated locations for NP_149163.2

      Status: REVIEWED

      Source sequence(s)
      AC007600, AC096996
      Consensus CDS
      CCDS10732.1
      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Related
      ENSP00000378230.1, ENST00000394747.5
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    5. NM_145186.3 → NP_660187.1  ATP-binding cassette sub-family C member 11 isoform b

      See identical proteins and their annotated locations for NP_660187.1

      Status: REVIEWED

      Source sequence(s)
      AC007600, AC096996
      Consensus CDS
      CCDS10733.1
      Related
      ENSP00000311326.6, ENST00000353782.9
      Conserved Domains (4) summary
      cd03244
      Location:1139 → 1321
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517 → 709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:85 → 1319
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:810 → 1087
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      48164819..48247539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023798.3 → XP_016879287.1  ATP-binding cassette sub-family C member 11 isoform X1

      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    2. XM_017023797.3 → XP_016879286.1  ATP-binding cassette sub-family C member 11 isoform X1

      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Related
      ENSP00000378231.1, ENST00000394748.5
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    3. XM_017023801.3 → XP_016879290.1  ATP-binding cassette sub-family C member 11 isoform X2

    4. XM_017023800.3 → XP_016879289.1  ATP-binding cassette sub-family C member 11 isoform X1

      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    5. XM_017023799.3 → XP_016879288.1  ATP-binding cassette sub-family C member 11 isoform X1

      UniProtKB/Swiss-Prot
      Q8TDJ0, Q96J66, Q96JA6, Q9BX80
      Conserved Domains (1) summary
      PLN03130
      Location:85 → 1371
      PLN03130; ABC transporter C family member; Provisional

    6. XM_024450475.2 → XP_024306243.1  ATP-binding cassette sub-family C member 11 isoform X3

      Conserved Domains (1) summary
      PLN03130
      Location:16 → 1052
      PLN03130; ABC transporter C family member; Provisional

    7. XM_017023802.3 → XP_016879291.1  ATP-binding cassette sub-family C member 11 isoform X3

      Conserved Domains (1) summary
      PLN03130
      Location:16 → 1052
      PLN03130; ABC transporter C family member; Provisional

    8. XM_011523398.4 → XP_011521700.1  ATP-binding cassette sub-family C member 11 isoform X5

      Conserved Domains (4) summary
      cd03244
      Location:516 → 736
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      COG1132
      Location:185 → 753
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:187 → 464
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:1 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_047434818.1 → XP_047290774.1  ATP-binding cassette sub-family C member 11 isoform X4

    RNA

    1. XR_007064925.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      53961650..54046163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314218.1 → XP_054170193.1  ATP-binding cassette sub-family C member 11 isoform X1

    2. XM_054314214.1 → XP_054170189.1  ATP-binding cassette sub-family C member 11 isoform X1

    3. XM_054314216.1 → XP_054170191.1  ATP-binding cassette sub-family C member 11 isoform X1

    4. XM_054314219.1 → XP_054170194.1  ATP-binding cassette sub-family C member 11 isoform X2

    5. XM_054314212.1 → XP_054170187.1  ATP-binding cassette sub-family C member 11 isoform X1

    6. XM_054314215.1 → XP_054170190.1  ATP-binding cassette sub-family C member 11 isoform X1

    7. XM_054314217.1 → XP_054170192.1  ATP-binding cassette sub-family C member 11 isoform X1

    8. XM_054314213.1 → XP_054170188.1  ATP-binding cassette sub-family C member 11 isoform X1

    9. XM_054314221.1 → XP_054170196.1  ATP-binding cassette sub-family C member 11 isoform X3

    10. XM_054314220.1 → XP_054170195.1  ATP-binding cassette sub-family C member 11 isoform X3

    11. XM_054314223.1 → XP_054170198.1  ATP-binding cassette sub-family C member 11 isoform X5

    12. XM_054314222.1 → XP_054170197.1  ATP-binding cassette sub-family C member 11 isoform X4

    RNA

    1. XR_008484745.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96J66.1 GenPept UniProtKB/Swiss-Prot:Q96J66

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