2. Gene
  3. ABCD4 - ATP binding cassette subfamily D member 4 Gene

ABCD4 - ATP binding cassette subfamily D member 4 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 D 成员 4

种属: Homo sapiens

同用名: P70R; P79R; ABC41; MAHCJ; PMP69; PXMP1L; EST352188

基因 ID: 5826 | 基因类型: protein coding

关于 ABCD4

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,285,269-74,302,934 (from NCBI)

This gene has 28 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 8.4), duodenum (RPKM 8.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 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) 。这种蛋白质是 ALD 亚家族的成员，它参与细胞器中脂肪酸和/或脂酰辅酶 A 的过氧化物酶体输入。所有已知的过氧化物酶体 ABC 转运蛋白都是半转运蛋白，需要伴侣半转运蛋白分子来形成功能性同二聚体或异二聚体转运蛋白。这种过氧化物酶体膜蛋白的功能是未知的。然而，据推测它可能作为另一种过氧化物酶体 ABC 转运蛋白的异二聚体发挥作用，因此可能会改变肾上腺脑白质营养不良表型。它也可能在过氧化物酶体生物合成过程中发挥作用。选择性剪接会产生几种蛋白质编码和非蛋白质编码变体。[RefSeq 提供，2017 年 7 月]

The 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]

ABCD4 基因产物(23)

mRNA Protein Name
NM_001353591.2 NP_001340520.1 lysosomal cobalamin transporter ABCD4 isoform d
NM_001353592.2 NP_001340521.1 lysosomal cobalamin transporter ABCD4 isoform e
NM_001353593.2 NP_001340522.1 lysosomal cobalamin transporter ABCD4 isoform f
NM_001353594.2 NP_001340523.1 lysosomal cobalamin transporter ABCD4 isoform g
NM_001353595.2 NP_001340524.1 lysosomal cobalamin transporter ABCD4 isoform h
NM_001353596.2 NP_001340525.1 lysosomal cobalamin transporter ABCD4 isoform h
NM_001353597.2 NP_001340526.1 lysosomal cobalamin transporter ABCD4 isoform i
NM_001353598.2 NP_001340527.1 lysosomal cobalamin transporter ABCD4 isoform c
NM_001353599.2 NP_001340528.1 lysosomal cobalamin transporter ABCD4 isoform j
NM_001353600.2 NP_001340529.1 lysosomal cobalamin transporter ABCD4 isoform j
NM_001353601.2 NP_001340530.1 lysosomal cobalamin transporter ABCD4 isoform j
NM_001353602.2 NP_001340531.1 lysosomal cobalamin transporter ABCD4 isoform k
NM_001353603.2 NP_001340532.1 lysosomal cobalamin transporter ABCD4 isoform k
NM_001353604.2 NP_001340533.1 lysosomal cobalamin transporter ABCD4 isoform k
NM_001353605.2 NP_001340534.1 lysosomal cobalamin transporter ABCD4 isoform k
NM_001353606.2 NP_001340535.1 lysosomal cobalamin transporter ABCD4 isoform l
NM_001353607.2 NP_001340536.1 lysosomal cobalamin transporter ABCD4 isoform l
NM_001353608.2 NP_001340537.1 lysosomal cobalamin transporter ABCD4 isoform l
NM_001353609.2 NP_001340538.1 lysosomal cobalamin transporter ABCD4 isoform l
NM_001353610.2 NP_001340539.1 lysosomal cobalamin transporter ABCD4 isoform m
NM_005050.4 NP_005041.1 lysosomal cobalamin transporter ABCD4 isoform a
NM_020324.3 NP_064720.1 lysosomal cobalamin transporter ABCD4 isoform c
NM_020325.3 NP_064730.1 lysosomal cobalamin transporter ABCD4 isoform b
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 vitamin B12 transporter activity EXP
EXP: 通过实验结果推断
33845046 GOA
enables ABC-type vitamin B12 transporter activity IDA
IDA: 通过直接分析推断
33845046 GOA
enables ABC-type vitamin B12 transporter activity IMP
IMP: 通过突变表型推断
33845046 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
27456980 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25535791 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cobalamin metabolic process IDA
IDA: 通过直接分析推断
33845046 GOA
involved in cobalamin metabolic process IMP
IMP: 通过突变表型推断
22922874 GOA
involved in cobalamin transport IMP
IMP: 通过突变表型推断
33845046 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
27456980 GOA
is active in lysosomal membrane IDA
IDA: 通过直接分析推断
33845046 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
27456980 GOA
NOT located in peroxisome IDA
IDA: 通过直接分析推断
19010322 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
9302272 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

ABCD4 蛋白结构

ABC_membrane_2

ABC_membrane_2: ABC transporter transmembrane region 2 (15 - 294)

ABC_tran

ABC_tran: ABC transporter (405 - 552)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 606 a.a.
蛋白主名 其他名称

lysosomal cobalamin transporter ABCD4

69 kDa peroxisomal ABC-transporter

ABCD4 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
ABCD4 O14678 LMBRD1 Homo sapiens Q9NUN5
Confocal
28572511
种属内
ABCD4 O14678 LMBRD1 Homo sapiens Q9NUN5
Confocal
27456980
种属内
ABCD4 O14678 LMBRD1 Homo sapiens Q9NUN5
Anti Bait CoIP
27456980
种属内
ABCD4 O14678 LMBRD1 Homo sapiens Q9NUN5
Anti Tag CoIP
27456980
种属内
ABCD4 O14678 FAM234B Homo sapiens A2RU67
Anti Tag CoIP
33961781
种属内
ABCD4 O14678 ATP5F1B Homo sapiens P06576
Crosslink
30021884
种属内
ABCD4 O14678 ABCD4 Homo sapiens O14678
Anti Tag CoIP
27456980
种属内
ABCD4 O14678 FCGRT Homo sapiens P55899
Anti Tag CoIP
33961781
种属内
ABCD4 O14678 PEA15 Homo sapiens Q15121
Y2H Pooling
16169070
种属内
ABCD4 O14678 ABCD4 Homo sapiens O14678
Crosslink
27456980
种属内
ABCD4 O14678 XRCC6 Homo sapiens P12956
Y2H Pooling
16169070
种属内
ABCD4 O14678 PUS1 Homo sapiens Q9Y606
Anti Tag CoIP
33961781
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
Methylmalonic Aciduria And Homocystinuria, Cblj Type

Methylmalonic Acidemia With Homocystinuria, Type Cblj

MAHCJ

Cblj Defects

Cobalamin J Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblj

Methylmalonic Aciduria With Homocystinuria, Type Cblj

Methylmalonic Aciduria And Homocystinuria Type Cblj

Aciduria, Methylmalonic, And Homocystinuria, Cblj Type
Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC

Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria And Homocystinuria Type Cblc

Cobalamin C Disease

Methylmalonic Acidemia With Homocystinuria Cblc

Methylmalonic Acidemia And Homocystinuria, Cblc Type

Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

Cobalamin C Deficiency

Methylmalonic Acidemia With Homocystinuria, Type Cblc

Cblc Defect

Cobalamin C Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria With Homocystinuria, Type Cblc

Methylmalonic Acidemia And Homocystinuria Cblc Type

Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

Methylmalonic Acidemia With Homocystinuria
Disorders Of Intracellular Cobalamin Metabolism
Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

ALD

Siemerling-Creutzfeldt Disease

X-Ald

X-Linked Cerebral Adrenoleukodystrophy

Bronze Schilder Disease

Melanodermic Leukodystrophy

Addison Disease And Cerebral Sclerosis

Adrenomyeloneuropathy, Adult

Diffuse Sclerosis

X-Cald

Adrenomyeloneuropathy

Encephalitis Periaxialis Concentrica

Encephalitis Periaxialis, Schilder'S

Sudanophilic Cerebral Sclerosis

Ald Childhood Cerebral Form

Adrenoleukodystrophy X-Linked Cerebral Form

Adrenoleukodystrophy Childhood Cerebral Form

Childhood Cerebral Ald

Schilder Disease

X-Linked Ald

Adrenoleukodystrophy, X-Linked

Amn

Diffuse Cerebral Sclerosis Of Schilder

Systemic Scleroderma

Balo'S Concentric Sclerosis

Ald - [Adrenoleukodystrophy]

Addison-Schilder
Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5

CBAS5

Bile Acid Synthesis Defect, Congenital, Type 5
Methylmalonic Aciduria And Homocystinuria, Cblf Type

Methylmalonic Aciduria And Homocystinuria Type Cblf

MAHCF

Methylmalonic Aciduria Due To Vitamin B12-Release Defect

Vitamin B12 Lysosomal Release Defect

Cobalamin F Disease

Cblf

Methylmalonic Acidemia And Homocystinuria, Cblf Type

Cobalamin, Defect In Lysosomal Release Of

Vitamin B12 Storage Disease

Cobalamin F Deficiency

Methylmalonic Acidemia With Homocystinuria Type Cblf

Cblf Defect

Cobalamin F Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf

Lysosomal Membrane Cobalamin Transporter Deficiency

Methylmalonic Aciduria With Homocystinuria, Type Cblf

Methylcobalamin Deficiency Tape F

Methylmalonic Acidemia And Homocystinuria Cblf Type

Vitamin B12 Storage Defect

Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease
Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

MAHCD

Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Gallbladder Papillomatosis
Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 1
Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type

Gd Iii

Gaucher Disease, Chronic Neuronopathic Type

Gaucher Disease, Juvenile And Adult, Cerebral

Gaucher Disease Type 3

GD3

Gaucher'S Disease Type Iii

Gaucher Disease Type Iii

Gd 3

Cerebral Juvenile And Adult Form Of Gaucher Disease

Chronic Neuronopathic Gaucher Disease

Gaucher Disease 3

Cerebral, Juvenile And Adult, Gaucher Disease

Gaucher Disease Chronic Neuronopathic Type

Gaucher Disease Type Ii

Subacute Neuronopathic Gaucher Disease

Type 3 Gaucher Disease

Gaucher Disease, Type 3

Gaucher Disease, Type 2
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12
Vitamin Metabolic Disorder
Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic
Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Leukodystrophy

Leukodystrophies
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00071 ABCD4 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22366 Abcd4 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28890 Abcd4 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ABCD4 VGNC VGNC:68137
Canis familiaris ABCD4 VGNC VGNC:37448
Bos taurus ABCD4 VGNC VGNC:55099
Mus musculus ABCD4 MGD MGI:1349217
Rattus norvegicus ABCD4 RGD RGD:1307273
Macaca mulatta ABCD4 VGNC VGNC:69580
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