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

Gene ID: 10058, updated on 5-Jan-2022

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
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Genomic context

See ABCB6 in Genome Data Viewer
Location:
2q35
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219209772..219218958, complement)
105.20201022 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 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 PubChem

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
enables ABC-type heme transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 copper ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular detoxification of cadmium ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular iron ion homeostasis NAS
Non-traceable Author Statement
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
PubMed 
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 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
PubMed 
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 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of mitochondrial outer membrane 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
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family B member 6
Names
ABC-type heme transporter ABCB6
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
truncated ATP binding cassette subfamily b member 6
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
    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: Homo sapiens Updated Annotation Release 109.20211119

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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