MIA3 - MIA SH3 domain ER export factor 3 Gene

Homo sapiens

Also known as ARNT; D320; ODCD2; TANGO; TANGO1; UNQ6077

Gene ID: 375056 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cargo receptor activity	IMP IMP: Inferred from mutant phenotype	27138255	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17726152	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in COPII-coated vesicle cargo loading	IMP IMP: Inferred from mutant phenotype	27138255	GOA
involved in cell migration involved in sprouting angiogenesis	IMP IMP: Inferred from mutant phenotype	28341552	GOA
involved in cellular response to oxidised low-density lipoprotein particle stimulus	IMP IMP: Inferred from mutant phenotype	28341552	GOA
involved in endoplasmic reticulum organization	IMP IMP: Inferred from mutant phenotype	28442536	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	27138255	GOA
involved in exocytosis	IMP IMP: Inferred from mutant phenotype	19269366	GOA
involved in lipoprotein transport	IMP IMP: Inferred from mutant phenotype	27138255	GOA
involved in negative regulation of cell adhesion	IDA IDA: Inferred from direct assay	17726152	GOA
involved in negative regulation of cell migration	IDA IDA: Inferred from direct assay	17044017	GOA
involved in negative regulation of leukocyte cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	28341552	GOA
involved in negative regulation of lymphocyte migration	IMP IMP: Inferred from mutant phenotype	28341552	GOA
involved in positive regulation of leukocyte migration	IDA IDA: Inferred from direct assay	17726152	GOA
involved in protein localization to endoplasmic reticulum exit site	IMP IMP: Inferred from mutant phenotype	28442536	GOA
involved in protein transport	IMP IMP: Inferred from mutant phenotype	19269366	GOA
involved in wound healing	IDA IDA: Inferred from direct assay	17044017	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum exit site	IDA IDA: Inferred from direct assay	21525241	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	19269366	GOA
located in membrane	IDA IDA: Inferred from direct assay	19269366	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MIA3 Protein Structure

SH3_2

0
300
600
900
1200
1500
1800
1907 a.a.

Protein Preferred Names

Protein Names

transport and Golgi organization protein 1 homolog

C219-reactive peptide

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08421	MIA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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