1. Gene
  2. ABCB10 - ATP binding cassette subfamily B member 10 Gene

ABCB10 - ATP binding cassette subfamily B member 10 Gene

中文名称:ATP 结合盒亚家族 B 成员 10

种属: Homo sapiens

同用名: M-ABC2; MTABC2; EST20237

基因 ID: 23456 | 基因类型: protein coding

关于 ABCB10

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,516,582-229,558,707 (from NCBI)

This gene has 3 transcripts (splice variants), 219 orthologues and 10 paralogues. Ubiquitous expression in bone marrow (RPKM 17.0), duodenum (RPKM 6.7) and 24 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 亚家族的成员参与了多药耐药性。这种线粒体蛋白的功能是未知的。[RefSeq 提供,2008 年 7 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. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]

ABCB10 基因产物(1)

mRNA Protein Name
NM_012089.3 NP_036221.2 ATP-binding cassette sub-family B member 10, mitochondrial
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 ATP hydrolysis activity IDA
IDA: 通过直接分析推断
33253225 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 erythrocyte development IMP
IMP: 通过突变表型推断
22085049 GOA
involved in mitochondrial unfolded protein response IMP
IMP: 通过突变表型推断
28315685 GOA
involved in positive regulation of hemoglobin biosynthetic process IMP
IMP: 通过突变表型推断
22085049 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
10922475 GOA
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

ABCB10 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (174 - 439)

ABC_tran

ABC_tran: ABC transporter (511 - 662)

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

ATP-binding cassette sub-family B member 10, mitochondrial

ABC transporter 10 protein

ABCB10 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
ABCB10 Q9NRK6 FECH Homo sapiens P22830 30765471
种属内
ABCB10 Q9NRK6 FECH Homo sapiens P22830 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
Developmental Coordination Disorder

Motor Skills Disorders

Non-Syndromic X-Linked Intellectual Disability Arx-Related

Arx-Related Intellectual Disability

Mrxarx

X-Linked Mental Retardation 29

X-Linked Mental Retardation 29 And Others

X-Linked Mental Retardation 32

X-Linked Mental Retardation 33

X-Linked Mental Retardation 38

X-Linked Mental Retardation 43

X-Linked Mental Retardation 76

X-Linked Mental Retardation 87

X-Linked Mental Retardation With Or Without Seizures Arx-Related

Mental Retardation, X-Linked, Type 29 And Others

Anisometropia
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

Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA

Dysgraphia

Agraphia

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria

Epp

Ferrochelatase Deficiency

Protoporphyria, Erythropoietic

Erythrohepatic Protoporphyria

Heme Synthetase Deficiency

Autosomal Erythropoietic Protoporphyria

EPP1

Protoporphyria

Protoporphyria Erythropoietic

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

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria

Writing Disorder
Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Specific Developmental Disorder
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ABCB10 VGNC VGNC:37432
Rattus norvegicus ABCB10 RGD RGD:1311222
Mus musculus ABCB10 MGD MGI:1860508
Felis catus ABCB10 VGNC VGNC:103727
Macaca mulatta ABCB10 VGNC VGNC:99826
Bos taurus ABCB10 VGNC VGNC:25462
Others ABCB10 NCBI