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    ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) [ Homo sapiens (human) ]

    Gene ID: 10058, updated on 10-Dec-2019

    Summary

    Official Symbol
    ABCB6provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 6 (Langereis blood group)provided by HGNC
    Primary source
    HGNC:HGNC:47
    See related
    Ensembl:ENSG00000115657 MIM:605452
    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
    ABC; LAN; PRP; umat; MTABC3
    Summary
    This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in testis (RPKM 14.1), ovary (RPKM 9.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See ABCB6 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219209772..219218958, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220074488..220083712, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene reticulophagy regulator family member 2 Neighboring gene zinc finger AN1-type containing 2B Neighboring gene autophagy related 9A Neighboring gene ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Neighboring gene galactosidase beta 1 like

    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 BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Mitochondrial ABC transporters, organism-specific biosystem (from REACTOME)
      Mitochondrial ABC transporters, organism-specific biosystemMammalian ABC transporters are usually found on the plasma membrane and on organelles such as the ER and peroxisome but a small number are also located on the mitochondria. Here they are thought to p...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ATG9A

    Homology

    Clone Names

    • FLJ22414

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity 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 
    efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme-transporting ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular iron ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heme transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    heme transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    porphyrin-containing compound biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ATP-binding cassette (ABC) transporter complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family B member 6, mitochondrial
    Names
    ATP-binding cassette half-transporter
    ATP-binding cassette sub-family B member 6
    ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
    P-glycoprotein-related protein
    mitochondrial ABC transporter 3
    mt-ABC transporter 3
    ubiquitously-expressed mammalian ABC half transporter

    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_032110.1 RefSeqGene

      Range
      5033..14219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349828.2NP_001336757.1  ATP-binding cassette sub-family B member 6, mitochondrial isoform 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 (2) is shorter than isoform 1.
      Source sequence(s)
      AC068946
      Consensus CDS
      CCDS86920.1
      Related
      ENSP00000295750.5, ENST00000295750.5
      Conserved Domains (2) summary
      COG5265
      Location:283777
      ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
      pfam16185
      Location:6209
      MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
    2. NM_005689.4NP_005680.1  ATP-binding cassette sub-family B member 6, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_005680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC068946, AF308472, AW664349
      Consensus CDS
      CCDS2436.1
      UniProtKB/Swiss-Prot
      Q9NP58
      Related
      ENSP00000265316.3, ENST00000265316.9
      Conserved Domains (4) summary
      cd03253
      Location:590825
      ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
      COG5265
      Location:329823
      ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
      pfam16185
      Location:6255
      MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
      cl00549
      Location:277544
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      219209772..219218958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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