Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
375056 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
MIA SH3 domain ER export factor 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MIA3 |
SynonymsGene synonyms aliases
|
ARNT, D320, ODCD2, TANGO, TANGO1, UNQ6077 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q41 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000139 |
Component |
Golgi membrane |
IEA |
|
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, 27138255, 27170179, 27551091, 28442536, 32296183 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
IBA |
21873635 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
IDA |
19269366 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
TAS |
|
GO:0006887 |
Process |
Exocytosis |
IMP |
19269366 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
IBA |
21873635 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
IMP |
27138255 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
TAS |
|
GO:0006897 |
Process |
Endocytosis |
IEA |
|
GO:0007029 |
Process |
Endoplasmic reticulum organization |
IMP |
28442536 |
GO:0007162 |
Process |
Negative regulation of cell adhesion |
IDA |
17726152 |
GO:0009306 |
Process |
Protein secretion |
IBA |
21873635 |
GO:0015031 |
Process |
Protein transport |
IMP |
19269366 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016021 |
Component |
Integral component of membrane |
IDA |
19269366 |
GO:0030336 |
Process |
Negative regulation of cell migration |
IDA |
17044017 |
GO:0035459 |
Process |
Vesicle cargo loading |
IBA |
21873635 |
GO:0038024 |
Function |
Cargo receptor activity |
IMP |
27138255 |
GO:0042060 |
Process |
Wound healing |
IDA |
17044017 |
GO:0042953 |
Process |
Lipoprotein transport |
IMP |
27138255 |
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0070971 |
Component |
Endoplasmic reticulum exit site |
IBA |
21873635 |
GO:0070971 |
Component |
Endoplasmic reticulum exit site |
IDA |
21525241, 25202031, 28442536 |
GO:0070973 |
Process |
Protein localization to endoplasmic reticulum exit site |
IMP |
28442536 |
GO:0090110 |
Process |
COPII-coated vesicle cargo loading |
IMP |
27138255 |
GO:0140052 |
Process |
Cellular response to oxidised low-density lipoprotein particle stimulus |
IMP |
28341552 |
GO:1903038 |
Process |
Negative regulation of leukocyte cell-cell adhesion |
IMP |
28341552 |
GO:2000402 |
Process |
Negative regulation of lymphocyte migration |
IMP |
28341552 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
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 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). |
PDB |
5KYN
,
5KYU
,
5KYW
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07653 |
SH3_2 |
49 → 105 |
Variant SH3 domain |
Domain |
|
Sequence |
MAAAPGLLVWLLVLRLPWRVPGQLDPSTGRRFSEHKLCADDECSMLMYRGEALEDFTGPD CRFVNFKKGDPVYVYYKLARGWPEVWAGSVGRTFGYFPKDLIQVVHEYTKEELQVPTDET 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 |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
21378990, 28714975, 29212778, 30104761, 26343387 |
Coronary heart disease |
Coronary heart disease |
rs-1 |
17634449, 22319020, 21347282, 21378990, 21966275 |
Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
19198609, 26343387 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary arteriosclerosis |
Coronary Arteriosclerosis |
|
21378990 |
|