2. Gene
  3. AP4S1 - adaptor related protein complex 4 subunit sigma 1 Gene

AP4S1 - adaptor related protein complex 4 subunit sigma 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 sigma 1

种属: Homo sapiens

同用名: AP47B; CLA20; CPSQ6; SPG52; CLAPS4

基因 ID: 11154 | 基因类型: protein coding

关于 AP4S1

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:31,025,106-31,096,450 (from NCBI)

This gene has 13 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues.

功能概要

该基因编码衔接复合物小亚基蛋白家族的成员。这些蛋白质是异四聚体衔接蛋白复合物的组分，通过介导囊泡形成和整合膜蛋白的分选，在分泌和内吞途径中发挥重要作用。编码的蛋白质是衔接蛋白复合物 4 的小亚基，它与网格蛋白和非网格蛋白包被的囊泡相关。该基因的突变与痉挛性四肢瘫痪性脑瘫 6 有关。已经观察到该基因编码多种亚型的选择性剪接转录变体，并且该基因的假基因位于 6 号染色体的长臂上。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

AP4S1 基因产物(6)

mRNA Protein Name
NM_001128126.3 NP_001121598.1 AP-4 complex subunit sigma-1 isoform 2
NM_001254726.2 NP_001241655.1 AP-4 complex subunit sigma-1 isoform 3
NM_001254727.2 NP_001241656.1 AP-4 complex subunit sigma-1 isoform 4
NM_001254728.2 NP_001241657.1 AP-4 complex subunit sigma-1 isoform 2
NM_001254729.2 NP_001241658.1 AP-4 complex subunit sigma-1 isoform 2
NM_007077.5 NP_009008.2 AP-4 complex subunit sigma-1 isoform 1
基因本体论
  • 细胞组分
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
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

AP4S1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 141)

  • 0
  • 100
  • 144 a.a.
蛋白主名 其他名称

AP-4 complex subunit sigma-1

AP-4 adapter complex subunit sigma-1

关联疾病

疾病名称 别名
Spastic Paraplegia 52, Autosomal Recessive

SPG52

Hereditary Spastic Paraplegia 52

Cpsq6

Cerebral Palsy, Spastic Quadriplegic, 6, Formerly

Cpsq6, Formerly

Autosomal Recessive Spastic Paraplegia 52

Spastic Quadriplegic Cerebral Palsy 6

Cerebral Palsy, Spastic Quadriplegic 6
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
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 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 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 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
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
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
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
Quadriplegia

Tetraplegia

Tetraplegias
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
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
Spastic Ataxia

Spax

Ataxia, Spastic
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS00799 AP4S1 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 AP4S1 VGNC VGNC:104357
Rattus norvegicus AP4S1 RGD RGD:1311990
Mus musculus AP4S1 MGD MGI:1337065
Macaca mulatta AP4S1 VGNC VGNC:84304
Bos taurus AP4S1 VGNC VGNC:25994
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