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Tbio
ABCB6
ATP-binding cassette sub-family B member 6, mitochondrial

Protein Summary
Description
Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000265316
  • ENSP00000265316
  • ENSG00000115657
  • ENST00000295750
  • ENSP00000295750

Symbol
  • MTABC3
  • PRP
  • UMAT
  • ABC
  • LAN
  • PRP
  • umat
  • MTABC3
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
molecular function
1
transcription factor perturbation
0.97
cellular component
0.92
protein domain
0.85


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 142.91   (req: < 5)
Gene RIFs: 32   (req: <= 3)
Antibodies: 178   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 142.91   (req: >= 5)
Gene RIFs: 32   (req: > 3)
Antibodies: 178   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
2
1
2
76.3
sex hormone-binding globulin measurement
2
1
2
73.1
reticulocyte count
4
1
4
65.6
reticulocyte measurement
3
1
3
62.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
2
76.3
sex hormone-binding globulin measurement
2
73.1
reticulocyte count
4
65.6
reticulocyte measurement
3
62.5
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily B member 6
VGNC:49
459959
Macaque
ATP binding cassette subfamily B member 6 (Langereis blood group)
704599
Mouse
MGI:1921354
74104
Rat
RGD:71077
140669
Dog
ATP binding cassette subfamily B member 6
VGNC:49115
478914
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily B member 6
Macaque
ATP binding cassette subfamily B member 6 (Langereis blood group)
Mouse
Rat
Dog
ATP binding cassette subfamily B member 6
Protein Structure (4 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9NP58-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (8)
ABC transporter disorders (R-HSA-5619084)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
ABC transporter disorders
Reactome
ABC-family proteins mediated transport
Reactome
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
Reactome
Disease
Reactome
Disorders of transmembrane transporters
Name
Explore in Pharos
Explore in Source
ABC transporter disorders
ABC-family proteins mediated transport
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
Disease
Disorders of transmembrane transporters
Protein-Protein Interactions (99)
1 – 10 of 99
MRAP2
Tbio
Novelty: 0.0420503
p_int: 0.997856033
p_ni: 0.002143967
Data Source: BioPlex
IFT27
Tbio
Family: Enzyme
Novelty: 0.05592902
p_int: 0.992000122
p_ni: 0.007999537
p_wrong: 3.4e-7
Data Source: BioPlex
DPEP1
Tclin
Family: Enzyme
Novelty: 0.00384946
p_int: 0.93873677
p_ni: 0.06126323
Score: 0.181
Data Source: BioPlex,STRINGDB
GRPR
Tchem
Family: GPCR
Novelty: 0.00282511
p_int: 0.897793145
p_ni: 0.102206855
Data Source: BioPlex
CLEC2D
Tbio
Novelty: 0.02501194
p_int: 0.881694771
p_ni: 0.118305229
Data Source: BioPlex
PCSK1
Tchem
Family: Enzyme
Novelty: 0.00315256
p_int: 0.870633136
p_ni: 0.129366815
p_wrong: 4.9e-8
Data Source: BioPlex
GNAI2
Tbio
Novelty: 0.03014729
p_int: 0.849506256
p_ni: 0.150493744
Score: 0.173
Data Source: BioPlex,STRINGDB
PCDHA12
Tdark
Novelty: 0.71618264
p_int: 0.805672749
p_ni: 0.194327251
Data Source: BioPlex
DCT
Tbio
Family: Enzyme
Novelty: 0.00411451
p_int: 0.761378363
p_ni: 0.238621474
p_wrong: 1.63e-7
Score: 0.23
Data Source: BioPlex,STRINGDB
ABCD4
Tbio
Family: Transporter
Novelty: 0.04096359
Score: 0.93
Data Source: STRINGDB
Publication Statistics
PubMed Score  142.91

PubMed score by year
PubTator Score  1125.57

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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