1. Gene
  2. SEC24A - SEC24 homolog A, COPII coat complex component Gene

SEC24A - SEC24 homolog A, COPII coat complex component Gene

中文名称:SEC24 同系物 A,COPII 涂层复杂成分

种属: Homo sapiens

基因 ID: 10802 | 基因类型: protein coding

关于 SEC24A

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,648,382-134,727,909 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues.

功能概要

该基因编码的蛋白质属于与酵母 Sec24 同源的蛋白质家族。这种蛋白质是外壳蛋白 II (COPII) 包被的囊泡的一个组成部分,它介导蛋白质从内质网的运输。 COPII 在细胞质中起作用,促进分泌蛋白、质膜蛋白和液泡蛋白从内质网向高尔基复合体的转运。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 11 月]

The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SEC24A 基因产物(2)

mRNA Protein Name
NM_001252231.2 NP_001239160.1 protein transport protein Sec24A isoform 2
NM_021982.3 NP_068817.1 protein transport protein Sec24A isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
17499046 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
18843296 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in COPII-coated vesicle cargo loading IDA
IDA: 通过直接分析推断
17499046 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
20427317 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of COPII vesicle coat IDA
IDA: 通过直接分析推断
17499046 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

SEC24A 蛋白结构

zf-Sec23_Sec24

zf-Sec23_Sec24: Sec23/Sec24 zinc finger (428 - 465)

Sec23_trunk

Sec23_trunk: Sec23/Sec24 trunk domain (501 - 739)

Sec23_BS

Sec23_BS: Sec23/Sec24 beta-sandwich domain (744 - 828)

Sec23_helical

Sec23_helical: Sec23/Sec24 helical domain (841 - 940)

Gelsolin

Gelsolin: Gelsolin repeat (966 - 1038)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1093 a.a.
蛋白主名 其他名称

protein transport protein Sec24A

SEC24 family, member A

SEC24A 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 SEC24A O95486 TFG Homo sapiens Q92734
Validated Y2H
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
Ceroid Lipofuscinosis, Neuronal, 8

Neuronal Ceroid Lipofuscinosis 8

CLN8

Cln8 Disease

Epilepsy Mental Deterioration Finnish Type

Northern Epilepsy

Cln8 Disease, Epmr

Cln8 Disease, Northern Epilepsy Variant

Cln8 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal 8

Ncl, Northern Epilepsy Variant

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy - Intellectual Disability, Finnish Type

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Turkish Variant Late Infantile Ncl

Ceroid Lipofuscinosis, Neuronal 8

Lipofuscinosis, Ceroid, Neuronal, Type 8

Northern Epilepsy Syndrome

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome

CLSD

Cranio-Lenticulo-Sutural Dysplasia

Cranio-Lenticulo-Sutural Dysplasia, Clsd

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii

CDAN2

Cda Ii

Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test

Cda Type Ii

Congenital Dyserythropoietic Anemia Type 2

Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test

Sec23b-Cdg

Congenital Dyserythropoietic Anemia, Type Ii

Dyserythropoietic Anemia, Hempas Type

Hempas

Cda Type 2

Dyserythropoietic Anemia, Congenital, Type Ii

Cda, Type Ii

Congenital Dyserythropoietic Anaemia Type 2

Congenital Dyserythropoietic Anaemia Type Ii

Anemia, Dyserythropoietic, Congenital Type 2

Hempas Anemia

Dyserythropoietic Anemia, Congenital Type 2

Anemia, Congenital Dyserythropoietic, 2

Dyserythropoietic Anemia Hempas Type

Anemia, Dyserythropoietic Congenital, Type Ii

Anemia, Dyserythropoietic, Congenital, Type Ii

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
Mus musculus SEC24A MGD MGI:1924621
Bos taurus SEC24A VGNC VGNC:34413
Rattus norvegicus SEC24A RGD RGD:1309451
Felis catus SEC24A VGNC VGNC:64967
Macaca mulatta SEC24A VGNC VGNC:77152
Canis familiaris SEC24A VGNC VGNC:45972
Others SEC24A NCBI