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Aliases for MIA3 Gene

Aliases for MIA3 Gene

  • Melanoma Inhibitory Activity Family Member 3 2 3 5
  • Melanoma Inhibitory Activity Family, Member 3 2 3
  • Transport And Golgi Organization Protein 1 3 4
  • C219-Reactive Peptide 3 4
  • TANGO1 3 4
  • TANGO 3 4
  • D320 3 4
  • 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 (Melanoma Inhibitory Activity Family Member 3) is a Protein Coding gene. Diseases associated with MIA3 include alcoholic neuropathy and inflammatory and toxic neuropathy. Among its related pathways are Transport to the Golgi and subsequent modification and Cellular Senescence. 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

Regulatory Elements for MIA3 Gene

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

ENSRs around MIA3 on UCSC Golden Path with GeneCards custom track

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. 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

  • 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

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 region (PRD) mediates the interaction with COPII coat subunits Sec23/24.
  • Belongs to the MIA/OTOR family. Tango1 subfamily.
Domain:
  • The proline-rich region (PRD) mediates the interaction with COPII coat subunits Sec23/24.
  • 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

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.
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

Transcription Factor Targets for MIA3 Gene

Selected GeneGlobe predicted Target genes for MIA3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 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
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:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IDA 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:0007162 negative regulation of cell adhesion IDA 17726152
GO:0015031 protein transport IEA,IMP 19269366
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0030336 negative regulation of cell migration IDA 17044017
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 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, 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 expression patterns with MIA3: view

Protein tissue co-expression partners for MIA3 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 73 (a)
OneToOne
MIA3 35
  • 81.81 (n)
  • 73.27 (a)
dog
(Canis familiaris)
Mammalia MIA3 35
  • 81.15 (n)
  • 74.34 (a)
MIA3 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mia3 16
Mia3 36
  • 55 (a)
OneToOne
Mia3 35
  • 75.82 (n)
  • 66.29 (a)
oppossum
(Monodelphis domestica)
Mammalia MIA3 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIA3 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mia3 35
  • 76.97 (n)
  • 69.58 (a)
chicken
(Gallus gallus)
Aves MIA3 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIA3 36
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mia3 36
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tango1 36
  • 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

(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
rs904324 -- 222,617,123(+) GTGCG(A/G)TTGTT upstream-variant-2KB
rs1133220 -- 222,661,461(-) TCTGT(A/G)TATAT intron-variant
rs1053364 -- 222,665,484(+) CCCCC(A/G)ACCCA reference, synonymous-codon
rs1053365 -- 222,665,480(+) ACCAC(C/T)CCCAA reference, missense
rs1391557 -- 222,636,274(+) ATTGG(A/C/T)CATAG intron-variant

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

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

HapMap Linkage Disequilibrium report
MIA3
Human Gene Mutation Database (HGMD)
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. Characterization and expression pattern of the novel MIA homolog TANGO. (PMID: 15183315) Bosserhoff A.K. … Buettner R. (Gene Expr. Patterns 2004) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Characterizing WW domain interactions of tumor suppressor WWOX reveals its association with multiprotein networks. (PMID: 24550385) Abu-Odeh M. … Aqeilan R.I. (J. Biol. Chem. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for MIA3 Gene

Sources for MIA3 Gene

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