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

Gene ID: 10058, updated on 15-Jun-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 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (219209766..219219017, 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 FunctionsWhat'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
 
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
    5001..14225
    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 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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