ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))

2003-06-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
ABC,LAN,MTABC3,PRP,umat
FUSION GENES

Other Information

Locus ID:

NCBI: 10058
MIM: 605452
HGNC: 47
Ensembl: ENSG00000115657

Variants:

dbSNP: 10058
ClinVar: 10058
TCGA: ENSG00000115657
COSMIC: ABCB6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115657ENST00000265316Q9NP58
ENSG00000115657ENST00000295750Q9NP58
ENSG00000115657ENST00000417678H7C049
ENSG00000115657ENST00000443805H7C3Z0
ENSG00000115657ENST00000448398H7C245
ENSG00000115657ENST00000452545H7C1R6

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Mitochondrial ABC transportersREACTOMER-HSA-1369007

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170064532006Identification of a mammalian mitochondrial porphyrin transporter.128
222465062012ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis.50
176614422007Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane.49
226550432012Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes.34
222260842012ABCB6 mutations cause ocular coloboma.30
182796592008Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus.26
235193332013Mutations in ABCB6 cause dyschromatosis universalis hereditaria.25
226886602013Increased expression of ABCB6 enhances protoporphyrin IX accumulation and photodynamic effect in human glioma.23
231805702013Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.22
211998662011Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.19

Citation

Dessen P

ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/537/abcb6