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

    Gene ID: 10058, updated on 8-Jul-2024

    Summary

    Official Symbol
    ABCB6provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 6 (LAN blood group)provided by HGNC
    Primary source
    HGNC:HGNC:47
    See related
    Ensembl:ENSG00000115657 MIM:605452; AllianceGenome:HGNC:47
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABCB6 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219209772..219218958, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219694538..219703724, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220074494..220083680, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220042692-220043192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12346 Neighboring gene reticulophagy regulator family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220072463-220072962 Neighboring gene zinc finger AN1-type containing 2B Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220082897-220083764 Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220094395-220094942 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ATG9A

    Clone Names

    • FLJ22414

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type heme transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ABC-type heme transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ABC-type heme transporter activity TAS
    Traceable Author Statement
    more info
     
    enables ABC-type transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ABC-type transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ABC-type transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tetrapyrrole binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular detoxification of cadmium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in heme B biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heme transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular copper ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular iron ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in melanosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in porphyrin-containing compound biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in porphyrin-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in porphyrin-containing compound metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tetrapyrrole metabolic process IMP
    Inferred from Mutant Phenotype
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endolysosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    NOT located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ATP-binding cassette sub-family B member 6
    Names
    ABC-type heme transporter ABCB6
    ATP binding cassette subfamily B member 6 (Langereis blood group)
    ATP-binding cassette half-transporter
    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
    NP_001336757.1
    NP_005680.1

    NCBI Reference Sequences (RefSeq)

    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_032110.1 RefSeqGene

      Range
      5033..14219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_824

    mRNA and Protein(s)

    1. NM_001349828.2NP_001336757.1  ATP-binding cassette sub-family B member 6 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 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
      O75542, Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6, Q9HAQ7, Q9NP58
      Related
      ENSP00000265316.3, ENST00000265316.9
      Conserved Domains (2) summary
      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

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219694538..219703724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)