1. Gene
  2. SEC13 - SEC13 homolog, nuclear pore and COPII coat complex component Gene

SEC13 - SEC13 homolog, nuclear pore and COPII coat complex component Gene

中文名称:SEC13 同源物、核孔和 COPII 涂层复合物成分

种属: Homo sapiens

同用名: SEC13R; npp-20; SEC13L1; D3S1231E

基因 ID: 6396 | 基因类型: protein coding

关于 SEC13

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,300,931-10,321,112 (from NCBI)

This gene has 19 transcripts (splice variants), 220 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 31.7), small intestine (RPKM 28.0) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 WD 重复蛋白的 SEC13 家族。它是内质网和核孔复合体的组成部分。它与酵母 SEC13 蛋白具有相似性,后者是蛋白质转运过程中内质网囊泡生物发生所必需的。已发现多个选择性剪接的转录本变体。[RefSeq 提供,2008 年 10 月]

The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]

SEC13 基因产物(5)

mRNA Protein Name
NM_001136026.3 NP_001129498.1 protein SEC13 homolog isoform 3
NM_001136232.3 NP_001129704.1 protein SEC13 homolog isoform 2
NM_001278946.2 NP_001265875.1 protein SEC13 homolog isoform 5
NM_030673.4 NP_109598.2 protein SEC13 homolog isoform 4
NM_183352.3 NP_899195.1 protein SEC13 homolog 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 identical protein binding IPI
IPI: 通过物理相互作用推断
18160040 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15146057 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 cellular response to nutrient levels IDA
IDA: 通过直接分析推断
35831510 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
35831510 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
part of GATOR2 complex IDA
IDA: 通过直接分析推断
35831510 GOA
colocalizes with kinetochore IDA
IDA: 通过直接分析推断
15146057 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
28199306 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
15146057 GOA
part of nuclear pore outer ring IDA
IDA: 通过直接分析推断
17360435 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

SEC13 蛋白结构

WD40

WD40: WD domain, G-beta repeat (5 - 41)

WD40

WD40: WD domain, G-beta repeat (51 - 86)

WD40

WD40: WD domain, G-beta repeat (93 - 130)

WD40

WD40: WD domain, G-beta repeat (140 - 195)

WD40

WD40: WD domain, G-beta repeat (202 - 243)

WD40

WD40: WD domain, G-beta repeat (263 - 290)

  • 0
  • 100
  • 200
  • 300
  • 322 a.a.
蛋白主名 其他名称

protein SEC13 homolog

GATOR complex protein SEC13

SEC13 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 SEC13 P55735 SEC16B Homo sapiens Q96JE7-2
Validated Y2H
25416956
Intra SEC13 P55735 SEC16B Homo sapiens Q96JE7-2
Y2H Prey Pooling
25416956
Intra SEC13 P55735 MIOS Homo sapiens Q9NXC5
Anti Tag CoIP
33961781
Intra SEC13 P55735 NUP37 Homo sapiens Q8NFH4
Y2H Array
27194810
Intra SEC13 P55735 MIOS Homo sapiens Q9NXC5
Anti Tag CoIP
28514442
Intra SEC13 P55735 NUP37 Homo sapiens Q8NFH4
Anti Tag CoIP
28514442
Intra SEC13 P55735 NUP37 Homo sapiens Q8NFH4
Anti Tag CoIP
33961781
Intra SEC13 P55735 SEH1L Homo sapiens Q96EE3
Anti Tag CoIP
35271311
Intra SEC13 P55735 MIOS Homo sapiens Q9NXC5
Anti Tag CoIP
35271311
Intra SEC13 P55735 NUP37 Homo sapiens Q8NFH4
Anti Tag CoIP
35271311
Intra SEC13 P55735 SEH1L Homo sapiens Q96EE3
Anti Tag CoIP
33961781
Intra SEC13 P55735 SEH1L Homo sapiens Q96EE3
Y2H Array
27194810
Cross SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687
X-Ray Diffraction
18160040
Cross SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687
GMS
18160040
Cross SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687
Y2H Array
27194810
Intra SEC13 P55735 SEC31A Homo sapiens O94979
Anti Tag CoIP
35271311
Intra SEC13 P55735 SEC31A Homo sapiens O94979
Anti Tag CoIP
33961781
Intra SEC13 P55735 TRAF5 Homo sapiens O00463
Validated Y2H
25416956
Intra SEC13 P55735 TRAF5 Homo sapiens O00463
Y2H Array
25416956
Intra SEC13 P55735 SEC16B Homo sapiens Q96JE7
Y2H Pooling
16189514
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
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

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption 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
Macaca mulatta SEC13 VGNC VGNC:77149
Felis catus SEC13 VGNC VGNC:64960
Bos taurus SEC13 VGNC VGNC:34403
Rattus norvegicus SEC13 RGD RGD:1359555
Canis familiaris SEC13 VGNC VGNC:45962
Mus musculus SEC13 MGD MGI:99832