MIA3
entrez
375056
canonical
uniprot
Q5JRA6
canonical
ensembl
ENSG00000154305
resolver
ensp
ENSP00000340900
resolver
ensp
ENSP00000345866
resolver
ensp
ENSP00000553575
resolver
genesymbol
MIA3
resolver
genesymbol_syn
KIAA0268
resolver
genesymbol_syn
TANGO
resolver
hgnc
HGNC:24008
resolver
uniprot
A8K2S0
resolver
uniprot
A8MT05
resolver
uniprot
A8MT13
resolver
uniprot
B7Z430
resolver
uniprot
Q14083
resolver
uniprot
Q3S4X3
resolver
uniprot
Q5JRA5
resolver
uniprot
Q5JRB0
resolver
uniprot
Q5JRB1
resolver
uniprot
Q5JRB2
resolver
uniprot
Q6UVY8
resolver
uniprot
Q86Y60
resolver
uniprot
Q8N8M5
resolver
uniprot
Q92580
resolver
uniprot_entry
TGO1_HUMAN
resolver
uniprot_sec
A8K2S0
resolver
uniprot_sec
A8MT05
resolver
uniprot_sec
A8MT13
resolver
uniprot_sec
B7Z430
resolver
uniprot_sec
Q14083
resolver
uniprot_sec
Q3S4X3
resolver
uniprot_sec
Q5JRA5
resolver
uniprot_sec
Q5JRB0
resolver
uniprot_sec
Q5JRB1
resolver
uniprot_sec
Q5JRB2
resolver
uniprot_sec
Q6UVY8
resolver
uniprot_sec
Q86Y60
resolver
uniprot_sec
Q8N8M5
resolver
uniprot_sec
Q92580
resolver
amino_acid_sequence
MAAAPGLLVWLLVLRLPWRVPGQLDPSTGRRFSEHKLCADDECSMLMYRGEALEDFTGPDCRFVNFKKGDPVYVYYKLARGWPEVWAGSVGRTFGYFPKDLIQVVHEYTKEELQVPTDETDFVCFDGGRDDFHNYNVEELLGFLELYNSAATDSEKAVEKTLQDMEKNPELSKEREPEPEPVEANSEESDSVFSENTEDLQEQFTTQKHHSHANSQANHAQGEQASFESFEEMLQDKLKVPESENNKTSNSSQVSNEQDKIDAYKLLKKEMTLDLKTKFGSTADALVSDDETTRLVTSLEDDFDEELDTEYYAVGKEDEENQEDFDELPLLTFTDGEDMKTPAKSGVEKYPTDKEQNSNEEDKVQLTVPPGIKNDDKNILTTWGDTIFSIVTGGEETRDTMDLESSSSEEEKEDDDDALVPDSKQGKPQSATDYSDPDNVDDGLFIVDIPKTNNDKEVNAEHHIKGKGRGVQESKRGLVQDKTELEDENQEGMTVHSSVHSNNLNSMPAAEKGKDTLKSAYDDTENDLKGAAIHISKGMLHEEKPGEQILEGGSESESAQKAAGNQMNDRKIQQESLGSAPLMGDDHPNASRDSVEGDALVNGAKLHTLSVEHQREELKEELVLKTQNQPRFSSPDEIDLPRELEDEVPILGRNLPWQQERDVAATASKQMSEKIRLSEGEAKEDSLDEEFFHHKAMQGTEVGQTDQTDSTGGPAFLSKVEEDDYPSEELLEDENAINAKRSKEKNPGNQGRQFDVNLQVPDRAVLGTIHPDPEIEESKQETSMILDSEKTSETAAKGVNTGGREPNTMVEKERPLADKKAQRPFERSDFSDSIKIQTPELGEVFQNKDSDYLKNDNPEEHLKTSGLAGEPEGELSKEDHENTEKYMGTESQGSAAAEPEDDSFHWTPHTSVEPGHSDKREDLLIISSFFKEQQSLQRFQKYFNVHELEALLQEMSSKLKSAQQESLPYNMEKVLDKVFRASESQILSIAEKMLDTRVAENRDLGMNENNIFEEAAVLDDIQDLIYFVRYKHSTAEETATLVMAPPLEEGLGGAMEEMQPLHEDNFSREKTAELNVQVPEEPTHLDQRVIGDTHASEVSQKPNTEKDLDPGPVTTEDTPMDAIDANKQPETAAEEPASVTPLENAILLIYSFMFYLTKSLVATLPDDVQPGPDFYGLPWKPVFITAFLGIASFAIFLWRTVLVVKDRVYQVTEQQISEKLKTIMKENTELVQKLSNYEQKIKESKKHVQETRKQNMILSDEAIKYKDKIKTLEKNQEILDDTAKNLRVMLESEREQNVKNQDLISENKKSIEKLKDVISMNASEFSEVQIALNEAKLSEEKVKSECHRVQEENARLKKKKEQLQQEIEDWSKLHAELSEQIKSFEKSQKDLEVALTHKDDNINALTNCITQLNLLECESESEGQNKGGNDSDELANGEVGGDRNEKMKNQIKQMMDVSRTQTAISVVEEDLKLLQLKLRASVSTKCNLEDQVKKLEDDRNSLQAAKAGLEDECKTLRQKVEILNELYQQKEMALQKKLSQEEYERQEREHRLSAADEKAVSAAEEVKTYKRRIEEMEDELQKTERSFKNQIATHEKKAHENWLKARAAERAIAEEKREAANLRHKLLELTQKMAMLQEEPVIVKPMPGKPNTQNPPRRGPLSQNGSFGPSPVSGGECSPPLTVEPPVRPLSATLNRRDMPRSEFGSVDGPLPHPRWSAEASGKPSPSDPGSGTATMMNSSSRGSSPTRVLDEGKVNMAPKGPPPFPGVPLMSTPMGGPVPPPIRYGPPPQLCGPFGPRPLPPPFGPGMRPPLGLREFAPGVPPGRRDLPLHPRGFLPGHAPFRPLGSLGPREYFIPGTRLPPPTHGPQEYPPPPAVRDLLPSGSRDEPPPASQSTSQDCSQALKQSP
uniprot
proteins
disease_involvement
DISEASE: Odontochondrodysplasia 2 with hearing loss and diabetes (ODCD2) [MIM:619269]: An autosomal recessive disorder characterized by dentinogenesis imperfecta, delayed tooth eruption, growth retardation with proportionate short stature, skeletal abnormalities, and dysmorphic facies in association with insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. {ECO:0000269|PubMed:32101163}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:19269366, PubMed:27138255). 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). {ECO:0000269|PubMed:19269366, ECO:0000269|PubMed:27138255, ECO:0000269|PubMed:28442536}.
uniprot
proteins
mass_dalton
213702
uniprot
proteins
protein_family
MIA/OTOR family
uniprot
proteins
protein_family
Tango1 subfamily
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15183315
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17044017
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19269366
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21525241
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
27138255
uniprot
proteins
pubmed
27551091
uniprot
proteins
pubmed
28442536
uniprot
proteins
pubmed
32101163
uniprot
proteins
pubmed
7758977
uniprot
proteins
pubmed
9039502
uniprot
proteins
sequence_length
1907
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19269366, ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:32101163}; Single-pass membrane protein {ECO:0000269|PubMed:19269366}. Note=Localizes at endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:32101163). 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}.
uniprot
proteins
transmembrane_region
TRANSMEM 1177..1197; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins