2. Gene
  3. MIA3 - MIA SH3 domain ER export factor 3 Gene

MIA3 - MIA SH3 domain ER export factor 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：MIA SH3 域 ER 导出因子 3

种属: Homo sapiens

同用名: ARNT; D320; ODCD2; TANGO; TANGO1; UNQ6077

基因 ID: 375056 | 基因类型: protein coding

关于 MIA3

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:222,618,097-222,668,007 (from NCBI)

This gene has 11 transcripts (splice variants), 162 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues.

功能概要

启用货物受体活动。参与多个过程，包括 COPII 包被的囊泡货物装载；细胞迁移参与新生血管生成；和白细胞迁移的调节。位于内质网出口部位和内质网膜。是膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables cargo receptor activity. Involved in several processes, including COPII-coated vesicle cargo loading; cell migration involved in sprouting angiogenesis; and regulation of leukocyte migration. Located in endoplasmic reticulum exit site and endoplasmic reticulum membrane. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

MIA3 基因产物(6)

mRNA Protein Name
NM_001300867.2 NP_001287796.1 transport and Golgi organization protein 1 homolog isoform 2
NM_001324062.2 NP_001310991.1 transport and Golgi organization protein 1 homolog isoform 3 precursor
NM_001324063.2 NP_001310992.1 transport and Golgi organization protein 1 homolog isoform 4 precursor
NM_001324064.2 NP_001310993.1 transport and Golgi organization protein 1 homolog isoform 5
NM_001324065.2 NP_001310994.1 transport and Golgi organization protein 1 homolog isoform 6
NM_198551.4 NP_940953.2 transport and Golgi organization protein 1 homolog isoform 1 precursor
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 cargo receptor activity IMP
IMP: 通过突变表型推断
27138255 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17726152 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 IMP
IMP: 通过突变表型推断
27138255 GOA
involved in cell migration involved in sprouting angiogenesis IMP
IMP: 通过突变表型推断
28341552 GOA
involved in cellular response to oxidised low-density lipoprotein particle stimulus IMP
IMP: 通过突变表型推断
28341552 GOA
involved in endoplasmic reticulum organization IMP
IMP: 通过突变表型推断
28442536 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
27138255 GOA
involved in exocytosis IMP
IMP: 通过突变表型推断
19269366 GOA
involved in lipoprotein transport IMP
IMP: 通过突变表型推断
27138255 GOA
involved in negative regulation of cell adhesion IDA
IDA: 通过直接分析推断
17726152 GOA
involved in negative regulation of cell migration IDA
IDA: 通过直接分析推断
17044017 GOA
involved in negative regulation of leukocyte cell-cell adhesion IMP
IMP: 通过突变表型推断
28341552 GOA
involved in negative regulation of lymphocyte migration IMP
IMP: 通过突变表型推断
28341552 GOA
involved in positive regulation of leukocyte migration IDA
IDA: 通过直接分析推断
17726152 GOA
involved in protein localization to endoplasmic reticulum exit site IMP
IMP: 通过突变表型推断
28442536 GOA
involved in protein transport IMP
IMP: 通过突变表型推断
19269366 GOA
involved in wound healing IDA
IDA: 通过直接分析推断
17044017 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum exit site IDA
IDA: 通过直接分析推断
21525241 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
19269366 GOA
located in membrane IDA
IDA: 通过直接分析推断
19269366 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

MIA3 蛋白结构

SH3_2

SH3_2: Variant SH3 domain (51 - 104)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1907 a.a.
蛋白主名 其他名称

transport and Golgi organization protein 1 homolog

C219-reactive peptide

MIA3 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
种属内
MIA3 Q5JRA6 COL7A1 Homo sapiens Q02388
Pull Down
19269366
种属内
MIA3 Q5JRA6 LENG8 Homo sapiens Q96PV6
Validated Y2H
32296183
种属内
MIA3 Q5JRA6 HOMER3 Homo sapiens Q9NSC5
Validated Y2H
32296183
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
Odontochondrodysplasia 2 With Hearing Loss And Diabetes

ODCD2

Ondontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin
Alcoholic Neuropathy

Alcoholic Polyneuropathy

Alcohol-Related Polyneuropathy

Alcohol-Induced Polyneuropathy

Alcoholic Peripheral Neuropathy
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
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
Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I

EDSCL1

Ehlers-Danlos Syndrome Classic Type 1

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome, Type I, Formerly

Eds1, Formerly

Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

Eds I, Formerly

Ehlers-Danlos Syndrome, Gravis Type, Formerly

Ehlers-Danlos Syndrome, Type 1

Type I Ehlers-Danlos Syndrome

Eds1

Eds I

Ehlers-Danlos Syndrome, Gravis Type

Ehlers-Danlos Syndrome, Severe Classic Type

Ehlers-Danlos Syndrome 1

Ehlers-Danlos, Classic Syndrome, Type 1

Ehlers-Danlos Syndrome Type 2
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness
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-RS08421 MIA3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MIA3 RGD RGD:1591600
Mus musculus MIA3 MGD MGI:2443183
Felis catus MIA3 VGNC VGNC:82489
Bos taurus MIA3 VGNC VGNC:31454
Canis familiaris MIA3 VGNC VGNC:43216
Macaca mulatta MIA3 VGNC VGNC:74565
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