Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000131269 Gene ID 22 Accession 48
Symbol ABCB7 Alias ABC7;ASAT;Atm1p;EST140535 Full Name ATP binding cassette subfamily B member 7
Status Confidence Length 105685 bases Strand Minus strand
Position X : 75051048 - 75156732 RNA binding domain N.A.
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 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
ABCB7-203 ENST00000373394 4592 752aa ENSP00000362492
ABCB7-201 ENST00000253577 4595 753aa ENSP00000253577
ABCB7-215 ENST00000666534 3883 No protein -
ABCB7-217 ENST00000669573 2377 693aa ENSP00000499543
ABCB7-212 ENST00000644766 2304 651aa ENSP00000493713
ABCB7-202 ENST00000339447 2234 712aa ENSP00000343849
ABCB7-213 ENST00000645829 2361 757aa ENSP00000496526
ABCB7-210 ENST00000620875 2142 713aa ENSP00000479985
ABCB7-214 ENST00000663420 2106 No protein -
ABCB7-207 ENST00000529949 2116 702aa ENSP00000436586
ABCB7-205 ENST00000490858 530 No protein -
ABCB7-216 ENST00000669388 1836 No protein -
ABCB7-209 ENST00000534570 805 47aa ENSP00000494779
ABCB7-204 ENST00000469368 630 No protein -
ABCB7-208 ENST00000534524 580 188aa ENSP00000435521
ABCB7-206 ENST00000526404 550 159aa ENSP00000432813
ABCB7-211 ENST00000643632 561 159aa ENSP00000493617

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005524enables ATP binding1IEAHomo_sapiens(9606)Function
GO:0005739located_in mitochondrion1IDAHomo_sapiens(9606)Component
GO:0005743is_active_in mitochondrial inner membrane3IBA,IDA,TASHomo_sapiens(9606)Component
GO:0006879involved_in intracellular iron ion homeostasis3IBA,IMP,ISSHomo_sapiens(9606)Process
GO:0015232enables heme transmembrane transporter activity1TASHomo_sapiens(9606)Function
GO:0015886involved_in heme transport1IEAHomo_sapiens(9606)Process
GO:0016226involved_in iron-sulfur cluster assembly1ISSHomo_sapiens(9606)Process
GO:0016887enables ATP hydrolysis activity1IEAHomo_sapiens(9606)Function
GO:0034755involved_in iron ion transmembrane transport1IDAHomo_sapiens(9606)Process
GO:0042626enables ATPase-coupled transmembrane transporter activity1IBAHomo_sapiens(9606)Function
GO:0042803enables protein homodimerization activity1IDAHomo_sapiens(9606)Function
GO:0055085involved_in transmembrane transport1IBAHomo_sapiens(9606)Process
GO:0070455involved_in positive regulation of heme biosynthetic process2IMP,ISSHomo_sapiens(9606)Process
GO:0140466involved_in iron-sulfur cluster export from the mitochondrion1IMPHomo_sapiens(9606)Process
GO:0140481enables ABC-type iron-sulfur cluster transporter activity1IMPHomo_sapiens(9606)Function
GO:1903331involved_in positive regulation of iron-sulfur cluster assembly2IMP,ISSHomo_sapiens(9606)Process
GO:1903427involved_in negative regulation of reactive oxygen species biosynthetic process1ISSHomo_sapiens(9606)Process

Expression