Tbio ABCB7 ATP-binding cassette sub-family B member 7, mitochondrial

Protein Summary

Description

Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. 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 gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Uniprot Accession IDs

• O75027
• G3XAC4
• O75345
• Q5VWY7
• Q5VWY8
• Q9BRE1
• Q9UND1
• Q9UP01

Gene Name

• ABCB7

Ensembl ID

• ENST00000253577
• ENSP00000253577
• ENSG00000131269
• ENST00000339447
• ENSP00000343849
• ENST00000373394
• ENSP00000362492
• ENST00000645829
• ENSP00000496526

Symbol

• ABC7
• ABC7
• ASAT
• Atm1p
• EST140535

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.99
histone modification site profile	0.88
disease perturbation	0.87
transcription factor perturbation	0.74
protein domain	0.73

Protein Classes

PANTHER Classes

Protein / ... / Serine Protease / Atp-binding Cassette Sub-family B Member 7, Mitochondrial

Protein / ... / Cysteine Protease / Atp-binding Cassette Sub-family B Member 7, Mitochondrial

DTO Classes

Protein / Transporter / Atp-binding Cassette Transporter Family / Abcb Subfamily / Atp-binding Cassette Sub-family B Member 7, Mitochondrial

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: 131.27   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 258   (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: 131.27   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 258   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

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