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Aliases for MIA3 Gene

Aliases for MIA3 Gene

  • MIA Family Member 3, ER Export Factor 2 3 5
  • Melanoma Inhibitory Activity Protein 3 3 4
  • C219-Reactive Peptide 3 4
  • TANGO1 3 4
  • TANGO 3 4
  • D320 3 4
  • Transport And Golgi Organization Protein 1 Homolog 3
  • Melanoma Inhibitory Activity Family, Member 3 3
  • Melanoma Inhibitory Activity Family Member 3 2
  • Transport And Golgi Organization Protein 1 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 Inflammatory And Toxic Neuropathy and Alcoholic Neuropathy. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. An important paralog of this gene is MIA2.

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).

Additional gene information for MIA3 Gene

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

Genomics for MIA3 Gene

GeneHancer (GH) Regulatory Elements for MIA3 Gene

Promoters and enhancers for MIA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I222643 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.3 +26.4 26368 2.7 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 MIA3 ENSG00000272750 CICP13 ENSG00000229399
GH01I222616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -211 3.1 HDGF PKNOX1 SMAD1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B MIA3 TAF1A-AS1 TAF1A ENSG00000272750
GH01I222710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 +94.4 94406 3.9 FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 BROX AIDA CICP13 ENSG00000272750 TAF1A CAPN2 DISP1 MIA3 FAM177B GC01M222708
GH01I222581 Enhancer 1 Ensembl ENCODE 21.6 -35.5 -35482 2.4 PKNOX1 JUN INSM2 ZNF140 EBF1 BATF THRB BCL11B ZEB1 HIC1 TAF1A MIA3 HHIPL2 CICP13 TAF1A-AS1 ENSG00000272750
GH01I221714 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -900.6 -900599 6.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B CICP13 ENSG00000272750 TAF1A MIA3 HHIPL2 MARC1 DUSP10 LOC105372945 GC01P221677
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MIA3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MIA3 Gene

Genomic Locations for MIA3 Gene
chr1:222,618,086-222,668,012
(GRCh38/hg38)
Size:
49,927 bases
Orientation:
Plus strand
chr1:222,791,428-222,841,354
(GRCh37/hg19)

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-TGO1_HUMAN
    Recommended name:
    Transport and Golgi organization protein 1 homolog
    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 with CTAGE5 (PubMed:21525241). Interacts (via SH3 domain) with COL7A1 (PubMed:19269366). Interacts with the COPII coat subunits SEC23A, SEC23B and maybe SEC24C (PubMed:19269366, PubMed:27551091). 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};

    Three dimensional structures from OCA and Proteopedia for MIA3 Gene

    Alternative splice isoforms for MIA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIA3 Gene

Post-translational modifications for MIA3 Gene

  • Ubiquitination at isoforms=2, 41477
  • Glycosylation at isoforms=2, 3161, isoforms=2, 3246, isoforms=2, 3250, posLast=589589, isoforms=2768, posLast=838838, posLast=10401040, posLast=10831083, and isoforms=21099

No data available for DME Specific Peptides for MIA3 Gene

Domains & Families for MIA3 Gene

Gene Families for MIA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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:

TGO1_HUMAN :
  • The proline-rich domain (PRD) contains repeated PPP motifs. A single PPP motif is necessary and sufficient to mediate interaction with the COPII coat subunits SEC23A and SEC23B.
  • Belongs to the MIA/OTOR family. Tango1 subfamily.
Domain:
  • The proline-rich domain (PRD) contains repeated PPP motifs. A single PPP motif is necessary and sufficient to mediate interaction with the COPII coat subunits SEC23A and SEC23B.
  • 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.
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).

Phenotypes From GWAS Catalog for MIA3 Gene

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:

Transcription Factor Targets for MIA3 Gene

Selected GeneGlobe predicted Target genes for MIA3

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIA3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
extracellular 2
plasma membrane 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
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:0006810 transport IEA --
GO:0006887 exocytosis IMP 19269366
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007162 negative regulation of cell adhesion IDA 17726152
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:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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-TGO1_HUMAN
Tissue specificity: Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue.

Evidence on tissue expression from TISSUES for MIA3 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Bone marrow(4.2)
  • Intestine(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with MIA3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 81.81 (n)
dog
(Canis familiaris)
Mammalia MIA3 33 34
  • 81.15 (n)
rat
(Rattus norvegicus)
Mammalia Mia3 33
  • 76.97 (n)
mouse
(Mus musculus)
Mammalia Mia3 33 16 34
  • 75.82 (n)
oppossum
(Monodelphis domestica)
Mammalia MIA3 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIA3 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIA3 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIA3 34
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mia3 34
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tango1 34
  • 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

Paralogs for MIA3 Gene

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

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 Variation AA Info Type
rs1000124225 -- 222,622,415(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000134295 -- 222,652,639(+) A/C intron_variant
rs1000174285 -- 222,650,166(+) T/C intron_variant
rs1000232738 -- 222,657,637(+) G/T intron_variant
rs1000546349 -- 222,659,037(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for MIA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular biology of the cell 2011) 2 3 4 58
  2. Characterization and expression pattern of the novel MIA homolog TANGO. (PMID: 15183315) Bosserhoff AK … Buettner R (Gene expression patterns : GEP 2004) 2 3 4 58
  3. TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats. (PMID: 27551091) Ma W … Goldberg J (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 58
  4. TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre-chylomicrons/VLDLs from the endoplasmic reticulum. (PMID: 27138255) Santos AJ … Malhotra V (The Journal of cell biology 2016) 3 4 58
  5. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 44 58

Products for MIA3 Gene

Sources for MIA3 Gene

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