MIA3 - MIA SH3 domain ER export factor 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 375056

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 References 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 References 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 References 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

SH3_2: Variant SH3 domain (51 - 104)

  • 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

MIA3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MIA3 Q5JRA6 COL7A1 Homo sapiens Q02388
Pull Down
19269366
Intra
MIA3 Q5JRA6 LENG8 Homo sapiens Q96PV6
Validated Y2H
32296183
Intra
MIA3 Q5JRA6 HOMER3 Homo sapiens Q9NSC5
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others MIA3 NCBI