MIA3 MIA SH3 domain ER export factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MIA3provided by HGNC
Official Full Name: MIA SH3 domain ER export factor 3provided by HGNC
Primary source: HGNC:HGNC:24008
See related: Ensembl:ENSG00000154305 MIM:613455; AllianceGenome:HGNC:24008
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARNT; D320; ODCD2; TANGO; TANGO1; UNQ6077
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]
Expression: Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (222618097..222668007)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (221851826..221901751)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (222791439..222841349)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis.
Title: Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis.
A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome.
Title: A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome.
TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway.
Title: TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway.
A general role for TANGO1, encoded by MIA3, in secretory pathway organization and function.
Title: A general role for TANGO1, encoded by MIA3, in secretory pathway organization and function.
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Title: Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS).
Title: Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS).
TANGO1 membrane helices create a lipid diffusion barrier at curved membranes.
Title: TANGO1 membrane helices create a lipid diffusion barrier at curved membranes.
The Mediterranean diet reduces the genetic risk of chromosome 9p21 for myocardial infarction in an Asian population community cohort.
Title: The Mediterranean diet reduces the genetic risk of chromosome 9p21 for myocardial infarction in an Asian population community cohort.
These data showed that the NRZ tether is required for TANGO1 to assemble into a ring and indicated that stable complexes of TANGO1, cTAGE5 and TANGO1-short, recruit the tether.
Title: TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.
Both cTAGE5 and SEC12 were exported with TANGO1 in large COPII carriers.
Title: TANGO1 and SEC12 are copackaged with procollagen I to facilitate the generation of large COPII carriers.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Odontochondrodysplasia 2 with hearing loss and diabetes MedGen: C5543275 OMIM: 619269 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association analysis of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with MIA3; predicted interaction to be within the endoplasmic reticulum	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76396 (e-PCR)
- UniSTS:44552

SGC34788 (e-PCR)
- UniSTS:2620

L18426 (e-PCR)
- UniSTS:34648

G29198 (e-PCR)
- UniSTS:69992

G20628 (e-PCR)
- UniSTS:40304

A005Z29 (e-PCR)
- UniSTS:40305

SHGC-57047 (e-PCR)
- UniSTS:2934

RH123426 (e-PCR)
- UniSTS:135801

SHGC-76389 (e-PCR)
- UniSTS:1941

RH12251 (e-PCR)
- UniSTS:37330

D13S918 (e-PCR)
- UniSTS:35034

D1S2529 (e-PCR)
- UniSTS:42978

D1S2190 (e-PCR)
- UniSTS:25577

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cargo receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipoprotein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of leukocyte cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lymphocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of leukocyte migration	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to endoplasmic reticulum exit site	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle cargo loading	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum exit site	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum exit site	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transport and Golgi organization protein 1 homolog

Names: C219-reactive peptide; MIA family member 3, ER export factor; melanoma inhibitory activity family, member 3; melanoma inhibitory activity protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001300867.2 → NP_001287796.1 transport and Golgi organization protein 1 homolog isoform 2

See identical proteins and their annotated locations for NP_001287796.1

Status: VALIDATED

Source sequence(s)

AK296712, AL592148, BC047116

Consensus CDS

CCDS73035.1

UniProtKB/Swiss-Prot

Q5JRA6

Related

ENSP00000345866.7, ENST00000340535.11

Conserved Domains (1) summary

pfam06409
Location:38 → 248

NPIP; Nuclear pore complex interacting protein (NPIP)
NM_001324062.2 → NP_001310991.1 transport and Golgi organization protein 1 homolog isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AL592148, KF459535

Conserved Domains (3) summary

cd11893
Location:37 → 109

SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein

pfam06346
Location:1710 → 1914

Drf_FH1; Formin Homology Region 1

pfam06409
Location:1160 → 1370

NPIP; Nuclear pore complex interacting protein (NPIP)
NM_001324063.2 → NP_001310992.1 transport and Golgi organization protein 1 homolog isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AL592148, KF459535

UniProtKB/Swiss-Prot

Q5JRA6
NM_001324064.2 → NP_001310993.1 transport and Golgi organization protein 1 homolog isoform 5

Status: VALIDATED

Source sequence(s)

AL592148, KF459535
NM_001324065.2 → NP_001310994.1 transport and Golgi organization protein 1 homolog isoform 6

Status: VALIDATED

Source sequence(s)

AL592148, KF459535
NM_198551.4 → NP_940953.2 transport and Golgi organization protein 1 homolog isoform 1 precursor

See identical proteins and their annotated locations for NP_940953.2

Status: VALIDATED

Source sequence(s)

AK096526, AL592148, BP423646, CK724924, D87742, DA040423

Consensus CDS

CCDS41470.1

UniProtKB/Swiss-Prot

A8K2S0, A8MT05, A8MT13, B7Z430, Q14083, Q3S4X3, Q5JRA5, Q5JRA6, Q5JRB0, Q5JRB1, Q5JRB2, Q6UVY8, Q86Y60, Q8N8M5, Q92580

Related

ENSP00000340900.5, ENST00000344922.10

Conserved Domains (3) summary

cd11893
Location:37 → 109

SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein

pfam06346
Location:1655 → 1874

Drf_FH1; Formin Homology Region 1

pfam06409
Location:1160 → 1370

NPIP; Nuclear pore complex interacting protein (NPIP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

222618097..222668007

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711304.5 → XP_006711367.3 transport and Golgi organization protein 1 homolog isoform X1

Conserved Domains (3) summary

cd11893
Location:37 → 109

SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein

cl25732
Location:1214 → 1539

SMC_N; RecF/RecN/SMC N terminal domain

cl26464
Location:1585 → 1858

Atrophin-1; Atrophin-1 family
XM_011509513.4 → XP_011507815.3 transport and Golgi organization protein 1 homolog isoform X3

Conserved Domains (2) summary

cd11893
Location:37 → 109

SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein

cl25732
Location:1215 → 1542

SMC_N; RecF/RecN/SMC N terminal domain
XM_017001243.3 → XP_016856732.1 transport and Golgi organization protein 1 homolog isoform X2
XM_047419783.1 → XP_047275739.1 transport and Golgi organization protein 1 homolog isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

221851826..221901751

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336457.1 → XP_054192432.1 transport and Golgi organization protein 1 homolog isoform X1
XM_054336459.1 → XP_054192434.1 transport and Golgi organization protein 1 homolog isoform X3
XM_054336458.1 → XP_054192433.1 transport and Golgi organization protein 1 homolog isoform X2
XM_054336460.1 → XP_054192435.1 transport and Golgi organization protein 1 homolog isoform X4