Aliases for MIA3 Gene

Aliases for MIA3 Gene

  • MIA SH3 Domain ER Export Factor 3 2 3 5
  • Transport And Golgi Organization Protein 1 Homolog 3 4
  • Melanoma Inhibitory Activity Protein 3 3 4
  • MIA Family Member 3, ER Export Factor 2 3
  • C219-Reactive Peptide 3 4
  • TANGO1 3 4
  • TANGO 3 4
  • D320 3 4
  • 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 SH3 Domain ER Export Factor 3) is a Protein Coding gene. Diseases associated with MIA3 include Inflammatory And Toxic Neuropathy and Alcoholic Neuropathy. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. An important paralog of this gene is MIA2.

UniProtKB/Swiss-Prot Summary 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, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536).

Additional gene information for MIA3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIA3 Gene

Genomics for MIA3 Gene

GeneHancer (GH) Regulatory Elements for MIA3 Gene

Promoters and enhancers for MIA3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIA3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MIA3 Gene

Genomic Locations for MIA3 Gene
chr1:222,618,097-222,668,012
(GRCh38/hg38)
Size:
49,916 bases
Orientation:
Plus strand
chr1:222,791,428-222,841,354
(GRCh37/hg19)
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-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 MIA2 (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, PubMed:28442536). May interact with APOB and MIA2 (PubMed:27138255). Isoform 1 and isoform 4 interact with SEC16A (PubMed:28442536).
    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};

    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

  • Glycosylation at Thr161, Asn246, Asn250, Asn589, Thr768, Thr838, Thr1040, Thr1083, Thr1093, Ser1099, and Thr1104
  • Ubiquitination at Lys1477
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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:
  • Transport and Golgi organization protein 1 (MIA3_HUMAN)

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, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536).

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:0038024 cargo receptor 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

Clone 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 (ERES), also known as transitional endoplasmic reticulum (tER). SEC16A is required for its proper localization to ERES. 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, ECO:0000269 PubMed:28442536}.

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
plasma membrane 1
extracellular 1
peroxisome 0
cytosol 0

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:0002042 cell migration involved in sprouting angiogenesis IMP 28341552
GO:0002687 positive regulation of leukocyte migration IDA 17726152
GO:0006887 exocytosis IMP 19269366
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006897 endocytosis IEA --
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

(6) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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 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, 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(2.1)
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 32
  • 81.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MIA3 33 32
  • 81.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mia3 32
  • 76.97 (n)
mouse
(Mus musculus)
Mammalia Mia3 17 33 32
  • 75.82 (n)
oppossum
(Monodelphis domestica)
Mammalia MIA3 33
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIA3 33
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIA3 33
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIA3 33
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mia3 33
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tango1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MIA3: view image

Paralogs for MIA3 Gene

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

  • MIA3_HUMAN
  • G8JLC6_HUMAN
  • H7BY50_HUMAN
  • H7C0T4_HUMAN
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

SNP Genotyping and Copy Number Assay Products

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 and DISEASES

Disorder Aliases PubMed IDs
inflammatory and toxic neuropathy
alcoholic neuropathy
  • alcohol-related polyneuropathy
spondyloepiphyseal dysplasia tarda, x-linked
  • sedt
- 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 56
  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 56
  3. TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion. (PMID: 28442536) Maeda M … Saito K (The Journal of cell biology 2017) 3 4 56
  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 56
  5. 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 56

Products for MIA3 Gene

Sources for MIA3 Gene