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ABCB6

GENERAL INFORMATION

Gene name

 ABCB6

Gene description

 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression with a granular pattern in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA046723
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ABCB6 (HGNC Symbol)

Synonyms

 EST45597, MTABC3, umat

Description

 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) (HGNC Symbol)

Entrez gene summary

 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 219209768 - 219218990

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000115657 (version 83.38)

Entrez gene

 10058

UniProt

 Q9NP58 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NP58

Antibodypedia

 ABCB6 antibodies

PROTEIN BROWSER
ABCB6-001
ABCB6-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCB6-001
ENSP00000265316
ENST00000265316
Q9NP58 [Direct mapping]
ATP-binding cassette sub-family B member 6, mitochondrial
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Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005740 [mitochondrial envelope]
GO:0005741 [mitochondrial outer membrane]
GO:0005768 [endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006779 [porphyrin-containing compound biosynthetic process]
GO:0006810 [transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0007420 [brain development]
GO:0015232 [heme transporter activity]
GO:0015439 [heme-transporting ATPase activity]
GO:0015562 [efflux transmembrane transporter activity]
GO:0015886 [heme transport]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0020037 [heme binding]
GO:0031307 [integral component of mitochondrial outer membrane]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043190 [ATP-binding cassette (ABC) transporter complex]
GO:0043588 [skin development]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
Show all
 842 aa
93.9 kDa 		No >9
ABCB6-005
ENSP00000295750
ENST00000295750
H7BXK9 [Direct mapping]
ATP-binding cassette sub-family B member 6, mitochondrial
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   9TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0006810 [transport]
GO:0008152 [metabolic process]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]
Show all
 690 aa
77.4 kDa 		No 9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.