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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

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