1. Gene
  2. EXOC4 - exocyst complex component 4 Gene

EXOC4 - exocyst complex component 4 Gene

中文名称:exocyst 复杂组件 4

种属: Homo sapiens

同用名: SEC8; Sec8p; SEC8L1

基因 ID: 60412 | 基因类型: protein coding

关于 EXOC4

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:133,253,078-134,100,951 (from NCBI)

This gene has 24 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in thyroid (RPKM 6.6), brain (RPKM 6.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是胞吐复合物的一个组成部分,胞吐复合物是一种多蛋白复合物,对于将胞吐囊泡靶向质膜上的特定停靠位点至关重要。尽管在酵母中得到了最好的表征,但已证明 exocyst 复合体的成分蛋白质和功能在高等真核生物中高度保守。发现 exocyst 复合物的至少八种成分 (包括这种蛋白质) 与肌动蛋白细胞骨架重塑和囊泡转运机制相互作用。该复合物对于上皮细胞表面极性的生物发生也是必不可少的。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

EXOC4 基因产物(2)

mRNA Protein Name
NM_001037126.2 NP_001032203.1 exocyst complex component 4 isoform b
NM_021807.4 NP_068579.3 exocyst complex component 4 isoform a
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
17043677 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
26638075 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

EXOC4 蛋白结构

Sec8_exocyst

Sec8_exocyst: Sec8 exocyst complex component specific domain (34 - 144)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 974 a.a.
蛋白主名 其他名称

exocyst complex component 4

SEC8-like 1

EXOC4 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
Intra EXOC4 Q96A65 SPAG9 Homo sapiens O60271
IF
25244576
Intra EXOC4 Q96A65 EXOC1 Homo sapiens Q9NV70
TAP
27173435
Intra EXOC4 Q96A65 EXOC1 Homo sapiens Q9NV70
Y2H
17043677
Intra EXOC4 Q96A65 BIRC6 Homo sapiens Q9NR09
Anti Bait CoIP
18329369
Intra EXOC4 Q96A65 MTM1 Homo sapiens Q13496
Pull Down
26760201
Intra EXOC4 Q96A65 EGFR Homo sapiens P00533
Anti Bait CoIP
25594178
Intra EXOC4 Q96A65 EXOC8 Homo sapiens Q8IYI6
TAP
27173435
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
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Bardet-Biedl Syndrome 17

BBS17

Bardet-Biedl Syndrome, Type 17

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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 EXOC4 VGNC VGNC:40514
Felis catus EXOC4 VGNC VGNC:80029
Macaca mulatta EXOC4 VGNC VGNC:81310
Mus musculus EXOC4 MGD MGI:1096376
Bos taurus EXOC4 VGNC VGNC:28648
Rattus norvegicus EXOC4 RGD RGD:621791