ABCB7 - ATP binding cassette subfamily B member 7 Gene

Homo sapiens

Also known as ABC7; ASAT; Atm1p; EST140535

Gene ID: 22 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00054	ABCB7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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