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

Gene ID: 375056, updated on 3-Nov-2024

Summary

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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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

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See MIA3 in Genome Data Viewer
Location:
1q41
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222618097..222668007)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221851826..221901751)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222791439..222841349)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:222699854-222700038 Neighboring gene HHIP like 2 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222763242-222763775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:222763776-222764308 Neighboring gene TAF1A antisense RNA 1 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:222791257-222792139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2577 Neighboring gene prefoldin subunit 5-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2581 Neighboring gene axin interactor, dorsalization associated Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:222885601-222886515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2582 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5205 Neighboring gene BRO1 domain and CAAX motif containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. MIA3 promotes the degradation of GSH (glutathione) by binding to CHAC1, thereby promoting the progression of hepatocellular carcinoma.
    Title: MIA3 promotes the degradation of GSH (glutathione) by binding to CHAC1, thereby promoting the progression of hepatocellular carcinoma.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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).
  8. TANGO1 membrane helices create a lipid diffusion barrier at curved membranes.
    Title: TANGO1 membrane helices create a lipid diffusion barrier at curved membranes.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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
Genomewide association analysis of coronary artery disease.
EBI GWAS Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
EBI GWAS Catalog

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21469, FLJ39207, KIAA0268

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 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)

  1. 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)

  2. 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)

  3. 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

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

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535

  5. NM_001324065.2 → NP_001310994.1  transport and Golgi organization protein 1 homolog isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535

  6. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    222618097..222668007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_017001243.3 → XP_016856732.1  transport and Golgi organization protein 1 homolog isoform X2

  4. XM_047419783.1 → XP_047275739.1  transport and Golgi organization protein 1 homolog isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    221851826..221901751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336457.1 → XP_054192432.1  transport and Golgi organization protein 1 homolog isoform X1

  2. XM_054336459.1 → XP_054192434.1  transport and Golgi organization protein 1 homolog isoform X3

  3. XM_054336458.1 → XP_054192433.1  transport and Golgi organization protein 1 homolog isoform X2

  4. XM_054336460.1 → XP_054192435.1  transport and Golgi organization protein 1 homolog isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JRA6.1 GenPept UniProtKB/Swiss-Prot:Q5JRA6

Gene LinkOut

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