Gene Gene information from NCBI Gene database.
Entrez ID 375056
Gene name MIA SH3 domain ER export factor 3
Gene symbol MIA3
Synonyms (NCBI Gene)
ARNTD320ODCD2TANGOTANGO1UNQ6077
Chromosome 1
Chromosome location 1q41
miRNA miRNA information provided by mirtarbase database.
324
miRTarBase ID miRNA Experiments Reference
MIRT029370 hsa-miR-26b-5p Microarray 19088304
MIRT717961 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT717960 hsa-miR-208b-5p HITS-CLIP 19536157
MIRT717959 hsa-miR-3928-5p HITS-CLIP 19536157
MIRT717958 hsa-miR-6806-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0002042 Process Cell migration involved in sprouting angiogenesis IMP 28341552
GO:0002687 Process Positive regulation of leukocyte migration IDA 17726152
GO:0005515 Function Protein binding IPI 17726152, 19269366, 21525241, 25202031, 25416956, 27138255, 27170179, 27551091, 28442536, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613455 24008 ENSG00000154305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JRA6
Protein name Transport and Golgi organization protein 1 homolog (TANGO1) (C219-reactive peptide) (D320) (Melanoma inhibitory activity protein 3)
Protein 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 fo
PDB 5KYN , 5KYU , 5KYW , 7R3M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 49 105 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue. {ECO:0000269|PubMed:15183315, ECO:0000269|PubMed:17044017}.
Sequence
MAAAPGLLVWLLVLRLPWRVPGQLDPSTGRRFSEHKLCADDECSMLMYRGEALEDFTGPD
CRFVNFKKGDPVYVYYKLARGWPEVWAGSVGRTFGYFPKDLIQVV
HEYTKEELQVPTDET
DFVCFDGGRDDFHNYNVEELLGFLELYNSAATDSEKAVEKTLQDMEKNPELSKEREPEPE
PVEANSEESDSVFSENTEDLQEQFTTQKHHSHANSQANHAQGEQASFESFEEMLQDKLKV
PESENNKTSNSSQVSNEQDKIDAYKLLKKEMTLDLKTKFGSTADALVSDDETTRLVTSLE
DDFDEELDTEYYAVGKEDEENQEDFDELPLLTFTDGEDMKTPAKSGVEKYPTDKEQNSNE
EDKVQLTVPPGIKNDDKNILTTWGDTIFSIVTGGEETRDTMDLESSSSEEEKEDDDDALV
PDSKQGKPQSATDYSDPDNVDDGLFIVDIPKTNNDKEVNAEHHIKGKGRGVQESKRGLVQ
DKTELEDENQEGMTVHSSVHSNNLNSMPAAEKGKDTLKSAYDDTENDLKGAAIHISKGML
HEEKPGEQILEGGSESESAQKAAGNQMNDRKIQQESLGSAPLMGDDHPNASRDSVEGDAL
VNGAKLHTLSVEHQREELKEELVLKTQNQPRFSSPDEIDLPRELEDEVPILGRNLPWQQE
RDVAATASKQMSEKIRLSEGEAKEDSLDEEFFHHKAMQGTEVGQTDQTDSTGGPAFLSKV
EEDDYPSEELLEDENAINAKRSKEKNPGNQGRQFDVNLQVPDRAVLGTIHPDPEIEESKQ
ETSMILDSEKTSETAAKGVNTGGREPNTMVEKERPLADKKAQRPFERSDFSDSIKIQTPE
LGEVFQNKDSDYLKNDNPEEHLKTSGLAGEPEGELSKEDHENTEKYMGTESQGSAAAEPE
DDSFHWTPHTSVEPGHSDKREDLLIISSFFKEQQSLQRFQKYFNVHELEALLQEMSSKLK
SAQQESLPYNMEKVLDKVFRASESQILSIAEKMLDTRVAENRDLGMNENNIFEEAAVLDD
IQDLIYFVRYKHSTAEETATLVMAPPLEEGLGGAMEEMQPLHEDNFSREKTAELNVQVPE
EPTHLDQRVIGDTHASEVSQKPNTEKDLDPGPVTTEDTPMDAIDANKQPETAAEEPASVT
PLENAILLIYSFMFYLTKSLVATLPDDVQPGPDFYGLPWKPVFITAFLGIASFAIFLWRT
VLVVKDRVYQVTEQQISEKLKTIMKENTELVQKLSNYEQKIKESKKHVQETRKQNMILSD
EAIKYKDKIKTLEKNQEILDDTAKNLRVMLESEREQNVKNQDLISENKKSIEKLKDVISM
NASEFSEVQIALNEAKLSEEKVKSECHRVQEENARLKKKKEQLQQEIEDWSKLHAELSEQ
IKSFEKSQKDLEVALTHKDDNINALTNCITQLNLLECESESEGQNKGGNDSDELANGEVG
GDRNEKMKNQIKQMMDVSRTQTAISVVEEDLKLLQLKLRASVSTKCNLEDQVKKLEDDRN
SLQAAKAGLEDECKTLRQKVEILNELYQQKEMALQKKLSQEEYERQEREHRLSAADEKAV
SAAEEVKTYKRRIEEMEDELQKTERSFKNQIATHEKKAHENWLKARAAERAIAEEKREAA
NLRHKLLELTQKMAMLQEEPVIVKPMPGKPNTQNPPRRGPLSQNGSFGPSPVSGGECSPP
LTVEPPVRPLSATLNRRDMPRSEFGSVDGPLPHPRWSAEASGKPSPSDPGSGTATMMNSS
SRGSSPTRVLDEGKVNMAPKGPPPFPGVPLMSTPMGGPVPPPIRYGPPPQLCGPFGPRPL
PPPFGPGMRPPLGLREFAPGVPPGRRDLPLHPRGFLPGHAPFRPLGSLGPREYFIPGTRL
PPPTHGPQEYPPPPAVRDLLPSGSRDEPPPASQSTSQDCSQALKQSP
Sequence length 1907
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES Pathogenic rs771534699 RCV001374392
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coronary artery disorder Benign rs17465637 RCV002245538
Odontochondrodysplasia 2 with hearing loss and diabetes Uncertain significance rs2527681162, rs899833450, rs766523561 RCV003336626
RCV003990807
RCV004555792
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abidi X linked mental retardation syndrome Associate 28737528
Adenomatous Polyposis Coli Associate 28742792
Atherosclerosis Associate 28341552
Carcinoma Hepatocellular Associate 37211171, 37948019
Cognition Disorders Associate 35954202
Colorectal Neoplasms Associate 28742792
Coronary Artery Disease Associate 17634449, 19164808, 21698238, 25528061, 28341552, 35768776, 37474895
Coronary Disease Associate 21804106
Cystic Fibrosis Associate 35954202
Dentinogenesis Imperfecta Associate 32101163