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    ABCB8 ATP binding cassette subfamily B member 8 [ Homo sapiens (human) ]

    Gene ID: 11194, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ABCB8provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 8provided by HGNC
    Primary source
    HGNC:HGNC:49
    See related
    Ensembl:ENSG00000197150 MIM:605464; AllianceGenome:HGNC:49
    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
    MABC1; M-ABC1; MITOSUR; EST328128
    Summary
    This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in testis (RPKM 5.6), endometrium (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCB8 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151028450..151047782)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152201535..152220870)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150725537..150744869)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150710378-150711069 Neighboring gene autophagy related 9B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18790 Neighboring gene uncharacterized LOC124901777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150722492-150723096 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:150723702-150724305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:150724306-150724910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:150725516-150726120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:150726121-150726724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150736215-150736999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150737000-150737783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150747130-150747768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150748624-150749202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150750636-150751136 Neighboring gene acid sensing ion channel subunit 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150754255-150754788 Neighboring gene cyclin dependent kinase 5

    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. Cryo-EM structure of human ABCB8 transporter in nucleotide binding state. Li S, et al. Biochem Biophys Res Commun, 2021 Jun 11. PMID 33872987
    2. Profiling of ABC transporters during active ulcerative colitis and in vitro effect of inflammatory modulators. Verma N, et al. Dig Dis Sci, 2013 Aug. PMID 23512405
    3. Mithramycin A suppresses expression of the human melanoma-associated gene ABCB8. Sachrajda I, et al. Mol Genet Genomics, 2011 Jan. PMID 21046154
    4. Mitochondrial ABC proteins in health and disease. Zutz A, et al. Biochim Biophys Acta, 2009 Jun. PMID 19248758
    5. ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome. Elliott AM, et al. Mol Cancer Res, 2009 Jan. PMID 19147539

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
      Title: Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
    2. Cryo-EM structure of human ABCB8 transporter in nucleotide binding state.
      Title: Cryo-EM structure of human ABCB8 transporter in nucleotide binding state.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. mutations in ABCB8 and ABCB10 is not associated with acute myeloid leukemia.
      Title: Exclusion of ABCB8 and ABCB10 as cancer candidate genes in acute myeloid leukemia.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. ABCB8 confers resistance through the protection of mitochondrial DNA from doxorubicin-induced DNA damage in a melanoma cell line.
      Title: ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome.
    Submit: New GeneRIF Correction

    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

    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

    Potential readthrough

    Included gene: ASIC3

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type peptide transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell volume homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of ATP-binding cassette (ABC) transporter complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial ATP-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial ATP-gated potassium channel complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial potassium channel ATP-binding subunit
    Names
    ATP-binding cassette sub-family B member 8, mitochondrial
    ATP-binding cassette, sub-family B (MDR/TAP), member 8
    mitochondrial ABC protein
    mitochondrial ATP-binding cassette 1
    mitochondrial sulfonylurea-receptor

    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.

    mRNA and Protein(s)

    1. NM_001282291.2 → NP_001269220.1  mitochondrial potassium channel ATP-binding subunit isoform a

      See identical proteins and their annotated locations for NP_001269220.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC010973, AK002018, AK222911, HY000407
      Consensus CDS
      CCDS64799.1
      UniProtKB/Swiss-Prot
      A5D8W3, B2RBL8, B3KND2, B4DG02, G3XAP3, O95787, Q53GM0, Q9NUT2
      UniProtKB/TrEMBL
      Q8N1X3
      Related
      ENSP00000297504.6, ENST00000297504.10
      Conserved Domains (1) summary
      COG1132
      Location:165 → 713
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

    2. NM_001282292.2 → NP_001269221.1  mitochondrial potassium channel ATP-binding subunit isoform c

      See identical proteins and their annotated locations for NP_001269221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC010973, BC141836, HY000407
      Consensus CDS
      CCDS64800.1
      UniProtKB/TrEMBL
      Q8N1X3
      Related
      ENSP00000418271.1, ENST00000498578.5
      Conserved Domains (2) summary
      TIGR00958
      Location:204 → 665
      3a01208; Conjugate Transporter-2 (CT2) Family protein
      cd18574
      Location:145 → 428
      ABC_6TM_ABCB8_like; Six-transmembrane helical domain (6-TMD) of ATP-binding cassette transporter subfamily B member 8, mitochondrial, and similar proteins

    3. NM_001282293.2 → NP_001269222.1  mitochondrial potassium channel ATP-binding subunit isoform d

      See identical proteins and their annotated locations for NP_001269222.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC010973, AK222911, AK294344
      Consensus CDS
      CCDS64798.1
      UniProtKB/TrEMBL
      B3KSN3
      Related
      ENSP00000438776.1, ENST00000542328.5
      Conserved Domains (1) summary
      COG1132
      Location:49 → 608
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

    4. NM_007188.5 → NP_009119.2  mitochondrial potassium channel ATP-binding subunit isoform b

      See identical proteins and their annotated locations for NP_009119.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC010973, AK222911
      Consensus CDS
      CCDS5913.1
      UniProtKB/TrEMBL
      Q8N1X3
      Related
      ENSP00000351717.4, ENST00000358849.9
      Conserved Domains (1) summary
      COG1132
      Location:148 → 696
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151028450..151047782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      152201535..152220870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUT2.3 GenPept UniProtKB/Swiss-Prot:Q9NUT2

    Gene LinkOut

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

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