1. Gene
  2. SEC31A - SEC31 homolog A, COPII coat complex component Gene

SEC31A - SEC31 homolog A, COPII coat complex component Gene

中文名称:SEC31 同源物 A,COPII 涂层复杂成分

种属: Homo sapiens

同用名: HPBKS; ABP125; ABP130; HSPC275; HSPC334; NEDSOSB; SEC31L1

基因 ID: 22872 | 基因类型: protein coding

关于 SEC31A

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,818,509-82,900,569 (from NCBI)

This gene has 41 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 48.8), thyroid (RPKM 42.6) and 25 other tissues.

功能概要

该基因编码的蛋白质与酵母 Sec31 蛋白具有相似性,是外壳蛋白复合物 II (COPII) 外层的组成部分。编码的蛋白质参与内质网 (ER) 的囊泡出芽,并且在 N 末端附近包含多个 WD 重复序列,在 C 末端一半包含富含脯氨酸的区域。它与由 SEC13 同系物、核孔和 COPII 涂层复合物成分 (SEC13) 编码的蛋白质相关,并且是 ER-高尔基体转运所必需的。发现 CUL3-KLHL12 对这种蛋白质的单泛素化可以调节 COPII 外衣的大小,以适应形状异常的货物。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SEC31A 基因产物(57)

mRNA Protein Name
NM_001077206.4 NP_001070674.1 protein transport protein Sec31A isoform 4
NM_001077207.4 NP_001070675.1 protein transport protein Sec31A isoform 1
NM_001077208.4 NP_001070676.1 protein transport protein Sec31A isoform 3
NM_001191049.2 NP_001177978.1 protein transport protein Sec31A isoform 5
NM_001300744.3 NP_001287673.1 protein transport protein Sec31A isoform 6
NM_001300745.3 NP_001287674.1 protein transport protein Sec31A isoform 7
NM_001318119.2 NP_001305048.1 protein transport protein Sec31A isoform 3
NM_001318120.2 NP_001305049.1 protein transport protein Sec31A isoform 1
NM_001400154.1 NP_001387083.1 protein transport protein Sec31A isoform 8
NM_001400155.1 NP_001387084.1 protein transport protein Sec31A isoform 8
NM_001400156.1 NP_001387085.1 protein transport protein Sec31A isoform 9
NM_001400157.1 NP_001387086.1 protein transport protein Sec31A isoform 10
NM_001400158.1 NP_001387087.1 protein transport protein Sec31A isoform 10
NM_001400159.1 NP_001387088.1 protein transport protein Sec31A isoform 10
NM_001400160.1 NP_001387089.1 protein transport protein Sec31A isoform 11
NM_001400161.1 NP_001387090.1 protein transport protein Sec31A isoform 32
NM_001400162.1 NP_001387091.1 protein transport protein Sec31A isoform 12
NM_001400164.1 NP_001387093.1 protein transport protein Sec31A isoform 1
NM_001400165.1 NP_001387094.1 protein transport protein Sec31A isoform 14
NM_001400166.1 NP_001387095.1 protein transport protein Sec31A isoform 1
NM_001400167.1 NP_001387096.1 protein transport protein Sec31A isoform 15
NM_001400168.1 NP_001387097.1 protein transport protein Sec31A isoform 15
NM_001400180.1 NP_001387109.1 protein transport protein Sec31A isoform 16
NM_001400184.1 NP_001387113.1 protein transport protein Sec31A isoform 17
NM_001400186.1 NP_001387115.1 protein transport protein Sec31A isoform 17
NM_001400188.1 NP_001387117.1 protein transport protein Sec31A isoform 16
NM_001400190.1 NP_001387119.1 protein transport protein Sec31A isoform 3
NM_001400191.1 NP_001387120.1 protein transport protein Sec31A isoform 3
NM_001400193.1 NP_001387122.1 protein transport protein Sec31A isoform 3
NM_001400194.1 NP_001387123.1 protein transport protein Sec31A isoform 18
NM_001400197.1 NP_001387126.1 protein transport protein Sec31A isoform 19
NM_001400198.1 NP_001387127.1 protein transport protein Sec31A isoform 20
NM_001400200.1 NP_001387129.1 protein transport protein Sec31A isoform 19
NM_001400202.1 NP_001387131.1 protein transport protein Sec31A isoform 20
NM_001400203.1 NP_001387132.1 protein transport protein Sec31A isoform 19
NM_001400204.1 NP_001387133.1 protein transport protein Sec31A isoform 21
NM_001400205.1 NP_001387134.1 protein transport protein Sec31A isoform 21
NM_001400206.1 NP_001387135.1 protein transport protein Sec31A isoform 21
NM_001400207.1 NP_001387136.1 protein transport protein Sec31A isoform 2
NM_001400208.1 NP_001387137.1 protein transport protein Sec31A isoform 22
NM_001400209.1 NP_001387138.1 protein transport protein Sec31A isoform 2
NM_001400210.1 NP_001387139.1 protein transport protein Sec31A isoform 23
NM_001400211.1 NP_001387140.1 protein transport protein Sec31A isoform 23
NM_001400212.1 NP_001387141.1 protein transport protein Sec31A isoform 24
NM_001400213.1 NP_001387142.1 protein transport protein Sec31A isoform 7
NM_001400214.1 NP_001387143.1 protein transport protein Sec31A isoform 25
NM_001400215.1 NP_001387144.1 protein transport protein Sec31A isoform 26
NM_001400216.1 NP_001387145.1 protein transport protein Sec31A isoform 27
NM_001400217.1 NP_001387146.1 protein transport protein Sec31A isoform 4
NM_001400218.1 NP_001387147.1 protein transport protein Sec31A isoform 28
NM_001400219.1 NP_001387148.1 protein transport protein Sec31A isoform 29
NM_001400220.1 NP_001387149.1 protein transport protein Sec31A isoform 29
NM_001400221.1 NP_001387150.1 protein transport protein Sec31A isoform 30
NM_001400222.1 NP_001387151.1 protein transport protein Sec31A isoform 30
NM_001400223.1 NP_001387152.1 protein transport protein Sec31A isoform 6
NM_001400224.1 NP_001387153.1 protein transport protein Sec31A isoform 31
NM_016211.5 NP_057295.2 protein transport protein Sec31A isoform 2
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 calcium-dependent protein binding IPI
IPI: 通过物理相互作用推断
16957052 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16407955 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 response to calcium ion IDA
IDA: 通过直接分析推断
17196169 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
located in COPII-coated ER to Golgi transport vesicle IDA
IDA: 通过直接分析推断
22358839 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17196169 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
17196169 GOA
located in endoplasmic reticulum exit site IDA
IDA: 通过直接分析推断
25201882 GOA
located in endoplasmic reticulum exit site IMP
IMP: 通过突变表型推断
16957052 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
17196169 GOA
part of vesicle coat IDA
IDA: 通过直接分析推断
22792322 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

SEC31A 蛋白结构

WD40

WD40: WD domain, G-beta repeat (251 - 285)

Sec16_C

Sec16_C: Sec23-binding domain of Sec16 (573 - 766)

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  • 1220 a.a.
蛋白主名 其他名称

protein transport protein Sec31A

SEC31 homolog A, COPII coating complex component

SEC31A 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 SEC31A O94979 SEC13 Homo sapiens P55735
Anti Tag CoIP
35271311
Intra SEC31A O94979 SEC13 Homo sapiens P55735
Cosedimentation
18692470
Intra SEC31A O94979 SEC13 Homo sapiens P55735
Anti Tag CoIP
33961781
Intra SEC31A O94979 REL Homo sapiens Q04864
Y2H Array
25416956
Intra SEC31A O94979 PDCD6 Homo sapiens O75340
Far-WB
17196169
Intra SEC31A O94979 PDCD6 Homo sapiens O75340
Confocal
17196169
Intra SEC31A O94979 SCYL1 Homo sapiens Q96KG9
Anti Tag CoIP
33961781
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
Halperin-Birk Syndrome

Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies

NEDSOSB

HLBKS

Pseudobulbar Palsy

Pseudobulbar Paralysis

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy

Epithelioid Inflammatory Myofibroblastic Sarcoma
Quadriplegia

Tetraplegia

Tetraplegias

Semilobar Holoprosencephaly
Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome

CLSD

Cranio-Lenticulo-Sutural Dysplasia

Cranio-Lenticulo-Sutural Dysplasia, Clsd

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

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 SEC31A VGNC VGNC:77256
Bos taurus SEC31A VGNC VGNC:34417
Felis catus SEC31A VGNC VGNC:64971
Rattus norvegicus SEC31A RGD RGD:620233
Canis familiaris SEC31A VGNC VGNC:45976
Mus musculus SEC31A MGD MGI:1916412