ABCB7 - ATP binding cassette subfamily B member 7 Gene

Also Known as ABC7; ASAT; Atm1p; EST140535

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22

About ABCB7

Cytogenetic location: Xq13.3 Genomic coordinates (GRCh38): X:75,051,048-75,156,283 (from NCBI)

This gene has 17 transcripts (splice variants), 207 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 8.8), heart (RPKM 7.5) and 25 other tissues.

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]

ABCB7 Products (5)

mRNA	Protein	Name
NM_001271696.3	NP_001258625.1	iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2
NM_001271697.3	NP_001258626.1	iron-sulfur clusters transporter ABCB7, mitochondrial isoform 3
NM_001271698.3	NP_001258627.1	iron-sulfur clusters transporter ABCB7, mitochondrial isoform 4
NM_001271699.3	NP_001258628.1	iron-sulfur clusters transporter ABCB7, mitochondrial isoform 5
NM_004299.6	NP_004290.2	iron-sulfur clusters transporter ABCB7, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type iron-sulfur cluster transporter activity	IMP IMP: Inferred from mutant phenotype	33157103	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	30765471	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25063848	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	30765471	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	30765471	GOA
involved in iron ion transmembrane transport	IDA IDA: Inferred from direct assay	17192393	GOA
involved in iron-sulfur cluster export from the mitochondrion	IMP IMP: Inferred from mutant phenotype	33157103	GOA
involved in positive regulation of heme biosynthetic process	IMP IMP: Inferred from mutant phenotype	30765471	GOA
involved in positive regulation of iron-sulfur cluster assembly	IMP IMP: Inferred from mutant phenotype	17192393	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	22655043	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCB7 Protein Structure

ABC_membrane

ABC_tran

0
200
400
600
752 a.a.

Protein Preferred Names	Protein Names
iron-sulfur clusters transporter ABCB7, mitochondrial	ABC transporter 7 protein

ABCB7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABCB7	O75027	FECH	Homo sapiens	P22830	Crosslink	30765471
Intra	ABCB7	O75027	ABCB7	Homo sapiens	O75027	Crosslink	30765471
Intra	ABCB7	O75027	FECH	Homo sapiens	P22830	Comig Non-Denat Gel	30765471
Intra	ABCB7	O75027	Abcb10	Mus musculus	Q9JI39	Anti Tag CoIP	30765471
Intra	ABCB7	O75027	FECH	Homo sapiens	P22830	Anti Tag CoIP	30765471
Intra	ABCB7	O75027	ABCB10	Homo sapiens	Q9NRK6	Comig Non-Denat Gel	30765471
Intra	ABCB7	O75027	ABCB7	Homo sapiens	O75027	Comig Non-Denat Gel	30765471
Intra	ABCB7	O75027	XAB2	Homo sapiens	Q9HCS7	Crosslink	30021884
Intra	ABCB7	O75027	Abcb10	Mus musculus	Q9JI39	Crosslink	30765471

Cross: Cross-species interaction Intra: Intraspecies interaction

ABCB7 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810841	ABCB7 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Anemia, Sideroblastic, And Spinocerebellar Ataxia	X-Linked Sideroblastic Anemia With Ataxia ASAT X-Linked Sideroblastic Anemia And Ataxia X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia Anemia, Sideroblastic, With Ataxia Anemia Sideroblastic And Spinocerebellar Ataxia Pagon Bird Detter Syndrome Pagon-Bird-Detter Syndrome Xlsa-A X-Linked Sideroblastic Anaemia And Ataxia X-Linked Sideroblastic Anaemia With Ataxia Sideroblastic Anemia With Spinocerebellar Ataxia Xlsa/A Anemia, Sideroblastic, Spinocerebellar Ataxia Sideroblastic Anemia And Ataxia Anemia Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Congenital Disorder Of Glycosylation, Type Ia	CDG1A Cdg Ia Phosphomannomutase 2 Deficiency Jaeken Syndrome Pmm2-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Type Ia Cdgia Congenital Disorder Of Glycosylation Ia Congenital Disorder Of Glycosylation 1a Carbohydrate-Deficient Glycoprotein Syndrome Type Ia Cdgs1a Pmm2-Cdg Cdg-Ia Congenital Disorder Of Glycosylation Type 1a Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly Pmm Deficiency Cdg Syndrome Type Ia Carbohydrate Deficient Glycoprotein Syndrome Type Ia Cdg Syndrome Type 1a Jaeken'S Syndrome Pmm2 Deficiency Glycosylation, Congenital Disorder Of, Type Ia
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Substance Abuse	Substance-Related Disorders Substance Abuse Problem
Viral Hepatitis	Animal Viral Hepatitis Hepatitis, Viral, Animal Human Viral Hepatitis Viral Hepatitis With Hepatic Coma
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Hypochromic Microcytic Anemia	Anemia, Hypochromic Microcytic Microcytic Hypochromic Anemia
Visceral Leishmaniasis	Kala-Azar Leishmaniasis, Visceral Infection By Visceral Leishmaniasis Leishmaniasis Visceral Sahib Disease Ponos Burdwan Fever Mard El Bicha Sirkari Disease Indian Visceral Leishmaniasis Dumdum Fever Visceral Leishmaniasis Due To Leishmania Donovani
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00054	ABCB7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21467	Abcb7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27985	Abcb7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCB7	VGNC	VGNC:81340
Canis familiaris	ABCB7	VGNC	VGNC:37435
Mus musculus	ABCB7	MGD	MGI:109533
Felis catus	ABCB7	VGNC	VGNC:97334
Bos taurus	ABCB7	VGNC	VGNC:25465
Rattus norvegicus	ABCB7	RGD	RGD:1303086
Others	ABCB7	NCBI