2. Gene
  3. ABCB7 - ATP binding cassette subfamily B member 7 Gene

ABCB7 - ATP binding cassette subfamily B member 7 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ATP 结合盒亚家族 B 成员 7

种属: Homo sapiens

同用名: ABC7; ASAT; Atm1p; EST140535

基因 ID: 22 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的膜相关蛋白是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。该蛋白是 MDR/TAP 亚家族的成员。 MDR/TAP 亚家族的成员参与多药耐药和抗原呈递。该基因编码参与血红素从线粒体到胞质溶胶转运的半转运蛋白。以铁/硫簇前体为底物，这种蛋白质可能在金属稳态中发挥作用。该基因的突变与线粒体铁积累和等双着丝粒 (X) (q13) 和铁粒幼细胞性贫血有关。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ABC-type iron-sulfur cluster transporter activity IMP
IMP: 通过突变表型推断
33157103 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
30765471 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25063848 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
30765471 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular iron ion homeostasis IMP
IMP: 通过突变表型推断
30765471 GOA
involved in iron ion transmembrane transport IDA
IDA: 通过直接分析推断
17192393 GOA
involved in iron-sulfur cluster export from the mitochondrion IMP
IMP: 通过突变表型推断
33157103 GOA
involved in positive regulation of heme biosynthetic process IMP
IMP: 通过突变表型推断
30765471 GOA
involved in positive regulation of iron-sulfur cluster assembly IMP
IMP: 通过突变表型推断
17192393 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
22655043 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ABCB7 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (142 - 424)

ABC_tran

ABC_tran: ABC transporter (488 - 637)

  • 0
  • 200
  • 400
  • 600
  • 752 a.a.
蛋白主名 其他名称

iron-sulfur clusters transporter ABCB7, mitochondrial

ABC transporter 7 protein

ABCB7 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ABCB7 O75027 FECH Homo sapiens P22830
Crosslink
30765471
种属内
ABCB7 O75027 ABCB7 Homo sapiens O75027
Crosslink
30765471
种属内
ABCB7 O75027 FECH Homo sapiens P22830
Comig Non-Denat Gel
30765471
种属内
ABCB7 O75027 Abcb10 Mus musculus Q9JI39
Anti Tag CoIP
30765471
种属内
ABCB7 O75027 FECH Homo sapiens P22830
Anti Tag CoIP
30765471
种属内
ABCB7 O75027 ABCB10 Homo sapiens Q9NRK6
Comig Non-Denat Gel
30765471
种属内
ABCB7 O75027 ABCB7 Homo sapiens O75027
Comig Non-Denat Gel
30765471
种属内
ABCB7 O75027 XAB2 Homo sapiens Q9HCS7
Crosslink
30021884
种属内
ABCB7 O75027 Abcb10 Mus musculus Q9JI39
Crosslink
30765471
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00054 ABCB7 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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