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Aliases for MIA3 Gene

Aliases for MIA3 Gene

  • MIA Family Member 3, ER Export Factor 2 3
  • Melanoma Inhibitory Activity Family Member 3 2 5
  • Transport And Golgi Organization Protein 1 3 4
  • C219-Reactive Peptide 3 4
  • TANGO1 3 4
  • TANGO 3 4
  • D320 3 4
  • Melanoma Inhibitory Activity Family, Member 3 3
  • Melanoma Inhibitory Activity Protein 3 3
  • Transport And Golgi Organization 2
  • C219 Reactive Peptide 2
  • KIAA0268 4
  • UNQ6077 3
  • ARNT 3

External Ids for MIA3 Gene

Previous GeneCards Identifiers for MIA3 Gene

  • GC01U901180
  • GC01P220858
  • GC01P222791
  • GC01P193465

Summaries for MIA3 Gene

GeneCards Summary for MIA3 Gene

MIA3 (MIA Family Member 3, ER Export Factor) is a Protein Coding gene. Diseases associated with MIA3 include Alcoholic Neuropathy and Inflammatory And Toxic Neuropathy. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. An important paralog of this gene is ENSG00000258941.

UniProtKB/Swiss-Prot for MIA3 Gene

  • Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIA3 Gene

Genomics for MIA3 Gene

Regulatory Elements for MIA3 Gene

Enhancers for MIA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MIA3 on UCSC Golden Path with GeneCards custom track

Promoters for MIA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for MIA3 Gene

Chromosome:
1
Start:
222,618,086 bp from pter
End:
222,668,012 bp from pter
Size:
49,927 bases
Orientation:
Plus strand

Genomic View for MIA3 Gene

Genes around MIA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIA3 Gene

Proteins for MIA3 Gene

  • Protein details for MIA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JRA6-MIA3_HUMAN
    Recommended name:
    Melanoma inhibitory activity protein 3
    Protein Accession:
    Q5JRA6
    Secondary Accessions:
    • A8K2S0
    • A8MT05
    • A8MT13
    • B7Z430
    • Q14083
    • Q3S4X3
    • Q5JRA5
    • Q5JRB0
    • Q5JRB1
    • Q5JRB2
    • Q6UVY8
    • Q86Y60
    • Q8N8M5
    • Q92580

    Protein attributes for MIA3 Gene

    Size:
    1907 amino acids
    Molecular mass:
    213702 Da
    Quaternary structure:
    • Interacts (via SH3 domain) with COL7A1. Interacts with the COPII coat subunits SEC23A and SEC24C. Interacts with CTAGE5 (PubMed:21525241). May interact with APOB and MIA2 (PubMed:27138255).
    SequenceCaution:
    • Sequence=BAC04810.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF83024.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI40474.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MIA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIA3 Gene

Post-translational modifications for MIA3 Gene

  • Ubiquitination at Lys 1477
  • Glycosylation at Thr 161, Asn 246, Asn 250, Asn 589, Thr 768, Thr 838, Thr 1040, Thr 1083, and Ser 1099
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIA3 Gene

Domains & Families for MIA3 Gene

Gene Families for MIA3 Gene

Protein Domains for MIA3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JRA6

UniProtKB/Swiss-Prot:

MIA3_HUMAN :
  • The proline-rich domain (PRD) mediates the interaction with COPII coat subunits.
  • Belongs to the MIA/OTOR family. Tango1 subfamily.
Domain:
  • The proline-rich domain (PRD) mediates the interaction with COPII coat subunits.
  • Although 2 transmembrane domains are predicted, PubMed:19269366 showed that it only contains one transmembrane domain. The other predicted transmembrane region is probably a hairpin-type region embedded into the membrane, which does not cross the membrane. It is unclear which of the 2 predicted transmembrane regions is the transmembrane or the hairpin-type region.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MIA/OTOR family. Tango1 subfamily.
genes like me logo Genes that share domains with MIA3: view

Function for MIA3 Gene

Molecular function for MIA3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255).

Gene Ontology (GO) - Molecular Function for MIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17726152
GO:0042954 lipoprotein transporter activity IMP 27138255
genes like me logo Genes that share ontologies with MIA3: view
genes like me logo Genes that share phenotypes with MIA3: view

Animal Models for MIA3 Gene

MGI Knock Outs for MIA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for MIA3

CRISPR Products

Transcription Factor Targets for MIA3 Gene

Selected GeneGlobe predicted Target genes for MIA3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for MIA3 Gene

Localization for MIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIA3 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Localizes at endoplasmic reticulum exit sites. After loading of COL7A1 into transport carriers, it is not incorporated into COPII carriers and remains in the endoplasmic reticulum membrane. {ECO:0000269 PubMed:19269366, ECO:0000269 PubMed:21525241}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MIA3 Gene COMPARTMENTS Subcellular localization image for MIA3 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 1
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 19269366
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MIA3: view

Pathways & Interactions for MIA3 Gene

genes like me logo Genes that share pathways with MIA3: view

Gene Ontology (GO) - Biological Process for MIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002687 positive regulation of leukocyte migration IDA 17726152
GO:0006887 exocytosis IMP 19269366
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007162 negative regulation of cell adhesion IDA 17726152
GO:0015031 protein transport IMP 19269366
genes like me logo Genes that share ontologies with MIA3: view

No data available for SIGNOR curated interactions for MIA3 Gene

Drugs & Compounds for MIA3 Gene

No Compound Related Data Available

Transcripts for MIA3 Gene

mRNA/cDNA for MIA3 Gene

(9) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MIA3 Gene

Melanoma inhibitory activity family, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIA3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1:
SP2:
SP3:
SP4: - - - - - -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MIA3 Gene

GeneLoc Exon Structure for
MIA3
ECgene alternative splicing isoforms for
MIA3

Expression for MIA3 Gene

mRNA expression in normal human tissues for MIA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MIA3 Gene

This gene is overexpressed in Nasal epithelium (15.5), Pancreas (11.4), and Stomach (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIA3 Gene



Protein tissue co-expression partners for MIA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIA3 Gene:

MIA3

SOURCE GeneReport for Unigene cluster for MIA3 Gene:

Hs.118474

mRNA Expression by UniProt/SwissProt for MIA3 Gene:

Q5JRA6-MIA3_HUMAN
Tissue specificity: Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue.
genes like me logo Genes that share expression patterns with MIA3: view

Primer Products

No data available for mRNA differential expression in normal tissues for MIA3 Gene

Orthologs for MIA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MIA3 34
  • 81.81 (n)
  • 73.27 (a)
MIA3 35
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIA3 34
  • 81.15 (n)
  • 74.34 (a)
MIA3 35
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mia3 34
  • 75.82 (n)
  • 66.29 (a)
Mia3 16
Mia3 35
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mia3 34
  • 76.97 (n)
  • 69.58 (a)
oppossum
(Monodelphis domestica)
Mammalia MIA3 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIA3 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIA3 35
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIA3 35
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mia3 35
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tango1 35
  • 19 (a)
OneToMany
Species where no ortholog for MIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIA3 Gene

ENSEMBL:
Gene Tree for MIA3 (if available)
TreeFam:
Gene Tree for MIA3 (if available)

Paralogs for MIA3 Gene

(3) SIMAP similar genes for MIA3 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MIA3 Gene

genes like me logo Genes that share paralogs with MIA3: view

Variants for MIA3 Gene

Sequence variations from dbSNP and Humsavar for MIA3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2936053 - 222,628,664(-) TGTCT(C/G/T)ATCTT reference, missense
rs2936052 - 222,629,034(-) GCAGT(C/T)TGGCC reference, missense
rs2936051 - 222,629,862(-) TGTTC(C/T)CATGG reference, missense
rs17857325 - 222,660,006(+) GGAGA(G/T)GGTGT reference, missense
rs17854428 - 222,662,109(+) CTGGG(A/G)AACCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MIA3 Gene

Variant ID Type Subtype PubMed ID
esv2603048 CNV deletion 19546169

Variation tolerance for MIA3 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.87; 79.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIA3 Gene

Human Gene Mutation Database (HGMD)
MIA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIA3 Gene

Disorders for MIA3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MIA3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alcoholic neuropathy
  • alcohol-related polyneuropathy
inflammatory and toxic neuropathy
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search MIA3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MIA3

Genetic Association Database (GAD)
MIA3
Human Genome Epidemiology (HuGE) Navigator
MIA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIA3
genes like me logo Genes that share disorders with MIA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIA3 Gene

Publications for MIA3 Gene

  1. cTAGE5 mediates collagen secretion through interaction with TANGO1 at endoplasmic reticulum exit sites. (PMID: 21525241) Saito K. … Katada T. (Mol. Biol. Cell 2011) 2 3 4 65
  2. Characterization and expression pattern of the novel MIA homolog TANGO. (PMID: 15183315) Bosserhoff A.K. … Buettner R. (Gene Expr. Patterns 2004) 2 3 4 65
  3. TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre- chylomicrons/VLDLs from the endoplasmic reticulum. (PMID: 27138255) Santos A.J. … Malhotra V. (J. Cell Biol. 2016) 3 4 65
  4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 46 65
  5. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. (PMID: 19955471) Bressler J. … Boerwinkle E. (Am. J. Epidemiol. 2010) 3 46 65

Products for MIA3 Gene

Sources for MIA3 Gene

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