2. Gene
  3. AP4B1 - adaptor related protein complex 4 subunit beta 1 Gene

AP4B1 - adaptor related protein complex 4 subunit beta 1 Gene

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

中文名称：适配器相关蛋白复合物 4 亚基 beta 1

种属: Homo sapiens

同用名: CPSQ5; SPG47; BETA-4

基因 ID: 10717 | 基因类型: protein coding

关于 AP4B1

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:113,894,194-113,905,028 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.1), spleen (RPKM 5.4) and 25 other tissues.

功能概要

该基因编码异四聚体接头样复合物 4 的一个亚基，该复合物参与将蛋白质从跨高尔基体网络靶向内体-溶酶体系统。该基因的突变与脑瘫痉挛性四肢瘫痪 5 型 (CPSQ5) 障碍有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

AP4B1 基因产物(4)

mRNA Protein Name
NM_001253852.3 NP_001240781.1 AP-4 complex subunit beta-1 isoform 1
NM_001253853.3 NP_001240782.1 AP-4 complex subunit beta-1 isoform 2
NM_001308312.2 NP_001295241.1 AP-4 complex subunit beta-1 isoform 3
NM_006594.5 NP_006585.2 AP-4 complex subunit beta-1 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
22472443 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AP-4 adaptor complex IDA
IDA: 通过直接分析推断
10066790 GOA
located in cytoplasmic side of trans-Golgi network transport vesicle membrane IDA
IDA: 通过直接分析推断
10066790 GOA
located in cytosol IDA
IDA: 通过直接分析推断
10066790 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
10066790 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

AP4B1 蛋白结构

Adaptin_N

Adaptin_N: Adaptin N terminal region (11 - 522)

B2-adapt-app_C

B2-adapt-app_C: Beta2-adaptin appendage, C-terminal sub-domain (620 - 731)

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

AP-4 complex subunit beta-1

AP-4 adaptor complex subunit beta

AP4B1 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
AP4B1 Q9Y6B7 TEPSIN Homo sapiens Q96N21
Y2H
32073997
种属内
AP4B1 Q9Y6B7 ZNF576 Homo sapiens Q9H609
Y2H Prey Pooling
25416956
种属内
AP4B1 Q9Y6B7 ZNF576 Homo sapiens Q9H609
Validated Y2H
25416956
种属内
AP4B1 Q9Y6B7 ZNF576 Homo sapiens Q9H609
Y2H Array
25416956
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
Spastic Paraplegia 47, Autosomal Recessive

Hereditary Spastic Paraplegia 47

SPG47

Cpsq5

Cerebral Palsy, Spastic Quadriplegic, 5, Formerly

Cpsq5, Formerly

Autosomal Recessive Spastic Paraplegia 47

Spastic Quadriplegic Cerebral Palsy 5

Cerebral Palsy, Spastic Quadriplegic 5
Spastic Paraplegia 51, Autosomal Recessive

SPG51

Spastic Paraplegia 51

Ap4 Deficiency Syndrome

Cpsq4

Cerebral Palsy, Spastic Quadriplegic, 4

Severe Intellectual Disability And Progressive Spastic Paraplegia

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly

Cpsq4, Formerly

Autosomal Recessive Spastic Paraplegia 51

Cerebral Palsy, Spastic Quadriplegic 4
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
46,Xy Sex Reversal 7

SRXY7

46,Xy Sex Reversal, Partial Or Complete, Dhh-Related

46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related

Gdxym

Gonadal Dysgenesis, Xy, Male-Limited

46xy Sex Reversal 7

Gonadal Dysgenesis, Xy, Male Limited

Complete Pure Gonadal Dysgenesis 46,Xy Type

Male-Limited Gonadal Dysgenesis 46,Xy

46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50

SPG50

Ap-4 Deficiency Syndrome

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Cpsq3, Formerly

Autosomal Recessive Spastic Paraplegia 50

Cpsq3

Spastic Quadriplegic Cerebral Palsy 3

Ap-4 Deficiency

Ap-4-Associated Hsp

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive

SPG74

Hereditary Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia Type 74

Paraplegia, Spastic, Autosomal Recessive, Type 74
Spastic Paraplegia 53, Autosomal Recessive

SPG53

Hereditary Spastic Paraplegia 53

Autosomal Recessive Spastic Paraplegia Type 53

Autosomal Recessive Spastic Paraplegia 53

Paraplegia, Spastic, Type 53, Autosomal Recessive
Spastic Paraplegia 63, Autosomal Recessive

SPG63

Hereditary Spastic Paraplegia 63

Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia Type 63

Paraplegia, Spastic, Type 63, Autosomal Recessive
Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Neuropathy, Hereditary Sensory, Type Iic

HSN2C

Hereditary Sensory Neuropathy Type 2c

Hereditary Sensory Neuropathy Type Iic

Neuropathy, Hereditary Sensory, Type 2c

Neuropathy, Hereditary Sensory, 2c

Hsn Iice

Neuropathy, Sensory, Hereditary, Type Iic
Spastic Paraplegia 11, Autosomal Recessive

SPG11

Hereditary Spastic Paraplegia 11

Hsp-Tcc

Autosomal Recessive Spastic Paraplegia Type 11

Nakamura-Osame Syndrome

Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome

Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum

Arhsp-Tcc

Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum

Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum

Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum

Paraplegia, Spastic, Autosomal Recessive, Type 11

Nakamura Osame Syndrome
Spastic Paraplegia 5a, Autosomal Recessive

SPG5A

Hereditary Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia Type 5a

Spastic Paraplegia 5a

Spastic Paraplegia Type 5a

Spastic Paraplegia Type 5a, Recessive

Autosomal Recessive Spastic Paraplegia

Spastic Paraplegia-5a

Paraplegia, Spastic, Autosomal Recessive, Type 5a
Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12

OI12

Osteogenesis Imperfecta Type Xii

Oi, Type Xii

Osteogenesis Imperfecta 12

Oi Type Xii

Oi-Xii

Osteogenesis Imperfecta Sillence Type Iii
Spastic Diplegia

Diplegic Infantile Cerebral Palsy

Little'S Disease

Cerebral Palsy

Cerebral Spastic Infantile Paralysis

Infantile Diplegic Cerebral Palsy

Infantile Spastic Cerebral Palsy

Littles Disease

Spastic Cerebral Palsy
Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49

Autosomal Recessive Spastic Paraplegia 49

Spg49

Paraplegia, Spastic, Type 49, Autosomal Recessive
Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2
Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10
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-RS00796 AP4B1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus AP4B1 VGNC VGNC:67731
Bos taurus AP4B1 VGNC VGNC:25991
Macaca mulatta AP4B1 VGNC VGNC:69972
Mus musculus AP4B1 MGD MGI:1337130
Canis familiaris AP4B1 VGNC VGNC:37968
Rattus norvegicus AP4B1 RGD RGD:1310529
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