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

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: mouse all
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Genomic context

Location:: 2q35

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219209772..219218958, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219694538..219703724, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220074494..220083680, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM structure of cadmium-bound human ABCB6.
Title: Cryo-EM structure of cadmium-bound human ABCB6.
Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.
Title: Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.
W546 stacking disruption traps the human porphyrin transporter ABCB6 in an outward-facing transient state.
Title: W546 stacking disruption traps the human porphyrin transporter ABCB6 in an outward-facing transient state.
Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma.
Title: Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma.
ABCB6 knockdown suppresses melanogenesis through the GSK3-beta/beta-catenin signaling axis in human melanoma and melanocyte cell lines.
Title: ABCB6 knockdown suppresses melanogenesis through the GSK3-β/β-catenin signaling axis in human melanoma and melanocyte cell lines.
ABCB6 polymorphisms are not overly represented in patients with porphyria.
Title: ABCB6 polymorphisms are not overly represented in patients with porphyria.
Substrate specificity of Chondroitinase ABC I based on analyses of biochemical reactions and crystal structures in complex with disaccharides.
Title: Substrate specificity of Chondroitinase ABC I based on analyses of biochemical reactions and crystal structures in complex with disaccharides.
UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6.
Title: UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6.
Cryo-electron microscopy structure of human ABCB6 transporter.
Title: Cryo-electron microscopy structure of human ABCB6 transporter.
Systematic analysis of the ABC transporter family in hepatocellular carcinoma reveals the importance of ABCB6 in regulating ferroptosis.
Title: Systematic analysis of the ABC transporter family in hepatocellular carcinoma reveals the importance of ABCB6 in regulating ferroptosis.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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

Associated conditions

Description	Tests
Dyschromatosis universalis hereditaria 3 MedGen: C3809394 OMIM: 615402 GeneReviews: Not available	Compare labs
Familial pseudohyperkalemia MedGen: C1836705 OMIM: 609153 GeneReviews: Not available	Compare labs
Langereis blood group MedGen: C3276339 OMIM: 111600 GeneReviews: Not available	Compare labs
Microphthalmia, isolated, with coloboma 7 MedGen: C3281027 OMIM: 614497 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2921 (e-PCR)
- UniSTS:22036

WI-20003 (e-PCR)
- UniSTS:49684

RH68357 (e-PCR)
- UniSTS:82830

RH121051 (e-PCR)
- UniSTS:132272

WI-19704 (e-PCR)
- UniSTS:18118

A002Q44 (e-PCR)
- UniSTS:4814

RH18248 (e-PCR)
- UniSTS:29392

RH103428 (e-PCR)
- UniSTS:97753

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 more info	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
located_in mitochondrion	HTP more info	PubMed
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

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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

EC 7.6.2.5

NP_005680.1

EC 7.6.2.5

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.

Genomic

NG_032110.1 RefSeqGene

Range

5033..14219

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_824

mRNA and Protein(s)

NM_001349828.2 → NP_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:283 → 777

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

pfam16185
Location:6 → 209

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
NM_005689.4 → NP_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:329 → 823

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

pfam16185
Location:6 → 255

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region