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Aliases for MIA3 Gene

Aliases for MIA3 Gene

  • Melanoma Inhibitory Activity Family, Member 3 2 3
  • TANGO1 3 4 6
  • TANGO 3 4 6
  • Transport And Golgi Organization Protein 1 3 4
  • C219-Reactive Peptide 3 4
  • KIAA0268 4 6
  • D320 3 4
  • Melanoma Inhibitory Activity Protein 3 3
  • Transport And Golgi Organization 2
  • C219 Reactive Peptide 2
  • UNQ6077 3
  • ARNT 3

External Ids for MIA3 Gene

Summaries for MIA3 Gene

GeneCards Summary for MIA3 Gene

MIA3 (Melanoma Inhibitory Activity Family, Member 3) is a Protein Coding gene. Among its related pathways are Pathways in cancer and Angiogenesis (CST). An important paralog of this gene is CTAGE9.

UniProtKB/Swiss-Prot for MIA3 Gene

  • Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. 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.

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

Genomic Location for MIA3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIA3 Gene

No data available for Regulatory Elements 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. Associates with the COPII coat subunits Sec23/Sec24.
    SequenceCaution:
    • Sequence=BAC04810.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF83024.1; Type=Erroneous initiation; 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

Proteomics data for MIA3 Gene at MOPED

Post-translational modifications for MIA3 Gene

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

Other Protein References for MIA3 Gene

No data available for DME Specific Peptides for MIA3 Gene

Domains for MIA3 Gene

Protein Domains for MIA3 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MIA3_HUMAN
Domain:
  • The proline-rich region (PRD) mediates the interaction with COPII coat subunits Sec23/24.:
    • Q5JRA6
  • 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.:
    • Q5JRA6
  • Contains 1 SH3 domain.:
    • Q5JRA6
Family:
  • Belongs to the MIA/OTOR family. Tango1 subfamily.:
    • Q5JRA6
genes like me logo Genes that share domains with MIA3: view

No data available for Gene Families for MIA3 Gene

Function for MIA3 Gene

Molecular function for MIA3 Gene

UniProtKB/Swiss-Prot Function: Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. 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.

Gene Ontology (GO) - Molecular Function for MIA3 Gene

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

miRNA for MIA3 Gene

miRTarBase miRNAs that target MIA3

Transcription Factor Targeting for MIA3 Gene

Selected GeneGlobe predicted Target genes for MIA3

No data available for Enzyme Numbers (IUBMB) , Animal Models and HOMER Transcription for MIA3 Gene

Localization for MIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIA3 Gene

Endoplasmic reticulum membrane; Single-pass type I 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.

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
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 19269366
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 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:0002063 chondrocyte development IEA --
GO:0002687 positive regulation of leukocyte migration IDA 17726152
GO:0006887 exocytosis IMP 19269366
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

Transcripts for MIA3 Gene

mRNA/cDNA for MIA3 Gene

(5) 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 for MIA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MIA3 Gene

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 expressions with MIA3: view

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 36
  • 81.81 (n)
  • 73.27 (a)
MIA3 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIA3 36
  • 81.15 (n)
  • 74.34 (a)
MIA3 37
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mia3 36
  • 75.82 (n)
  • 66.29 (a)
Mia3 16
Mia3 37
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MIA3 37
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIA3 37
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mia3 36
  • 76.97 (n)
  • 69.58 (a)
chicken
(Gallus gallus)
Aves MIA3 37
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIA3 37
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mia3 37
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tango1 37
  • 19 (a)
OneToMany
Species with no ortholog for MIA3:
  • 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

Selected 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 MAF
rs904323 -- 222,617,024(+) CCTGG(A/G)TTTGA upstream-variant-2KB
rs904324 -- 222,617,123(+) GTGCG(A/G)TTGTT upstream-variant-2KB
rs1053316 -- 222,666,496(+) TGGCC(A/G)TAAAA utr-variant-3-prime, downstream-variant-500B
rs1053364 -- 222,665,484(+) CCCCC(A/G)ACCCA reference, synonymous-codon
rs1053365 -- 222,665,480(+) ACCAC(C/T)CCCAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv873205 CNV Loss 21882294
esv2603048 CNV Deletion 19546169

Relevant External Links for MIA3 Gene

HapMap Linkage Disequilibrium report
MIA3
Human Gene Mutation Database (HGMD)
MIA3

Disorders for MIA3 Gene

Relevant External Links for MIA3

Genetic Association Database (GAD)
MIA3
Human Genome Epidemiology (HuGE) Navigator
MIA3
genes like me logo Genes that share disorders with MIA3: view

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

Publications for MIA3 Gene

  1. Characterization and expression pattern of the novel MIA homolog TANGO. (PMID: 15183315) Bosserhoff A.K. … Buettner R. (Gene Expr. Patterns 2004) 2 3 4
  2. 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 49
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Additive effect of multiple genetic variants on the risk of coronary artery disease. (PMID: 20738937) LluA-s-Ganella C. … Elosua R. (Rev Esp Cardiol 2010) 3 49
  5. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PMID: 20971364) Ripatti S. … Kathiresan S. (Lancet 2010) 3 49

Products for MIA3 Gene

Sources for MIA3 Gene

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