9.B.113.1.2
Transport and golgic organization protein 1, Mia1 or TANGO1, of 1907 aas and 3 potential TMSs, one N-terminal and two closely positioned at about residue 1200. It 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 (ER). This protein is required for
collagen VII (COL7A1) secretion by loading COL7A1 into transport
carriers. It may participate in cargo loading of COL7A1 at ER exit sites by binding to COPII coat subunits Sec23/24 and
guiding SH3-bound COL7A1 into a growing carrier. It does not play a role in
global protein secretion and is apparently specific to COL7A1 cargo
loading. It is required for
the secretion of lipoproteins by participating in their export from the ER (Santos et al. 2016). It is localised at ER exit sites, where it binds bulky cargo within the ER lumen and recruits membranes from the ER Golgi intermediate compartment to create an exit route for their export. Lekszas et al. 2020 reported the first TANGO1-associated syndrome in humans. A synonymous substitution results in exon eight skipping, ultimately leading to a truncated TANGO1 protein,and it causes disease that involves severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies revealed that the corresponding truncated TANGO1 protein is dispersed in the ER, and its expression in cells with intact endogenous TANGO1 impairs cellular collagen I secretion (Lekszas et al. 2020).
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| Accession Number: | Q5JRA6 |
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| Protein Name: | Transport and Golgi organization protein 1 homolog |
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| Length: | 1907 |
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| Molecular Weight: | 213702.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 2 |
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| Location1 / Topology2 / Orientation3: |
Endoplasmic reticulum membrane1 / Single-pass membrane protein2 |
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| Substrate |
protein, lipoprotein, Collagen |
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1: MAAAPGLLVW LLVLRLPWRV PGQLDPSTGR RFSEHKLCAD DECSMLMYRG EALEDFTGPD
61: CRFVNFKKGD PVYVYYKLAR GWPEVWAGSV GRTFGYFPKD LIQVVHEYTK EELQVPTDET
121: DFVCFDGGRD DFHNYNVEEL LGFLELYNSA ATDSEKAVEK TLQDMEKNPE LSKEREPEPE
181: PVEANSEESD SVFSENTEDL QEQFTTQKHH SHANSQANHA QGEQASFESF EEMLQDKLKV
241: PESENNKTSN SSQVSNEQDK IDAYKLLKKE MTLDLKTKFG STADALVSDD ETTRLVTSLE
301: DDFDEELDTE YYAVGKEDEE NQEDFDELPL LTFTDGEDMK TPAKSGVEKY PTDKEQNSNE
361: EDKVQLTVPP GIKNDDKNIL TTWGDTIFSI VTGGEETRDT MDLESSSSEE EKEDDDDALV
421: PDSKQGKPQS ATDYSDPDNV DDGLFIVDIP KTNNDKEVNA EHHIKGKGRG VQESKRGLVQ
481: DKTELEDENQ EGMTVHSSVH SNNLNSMPAA EKGKDTLKSA YDDTENDLKG AAIHISKGML
541: HEEKPGEQIL EGGSESESAQ KAAGNQMNDR KIQQESLGSA PLMGDDHPNA SRDSVEGDAL
601: VNGAKLHTLS VEHQREELKE ELVLKTQNQP RFSSPDEIDL PRELEDEVPI LGRNLPWQQE
661: RDVAATASKQ MSEKIRLSEG EAKEDSLDEE FFHHKAMQGT EVGQTDQTDS TGGPAFLSKV
721: EEDDYPSEEL LEDENAINAK RSKEKNPGNQ GRQFDVNLQV PDRAVLGTIH PDPEIEESKQ
781: ETSMILDSEK TSETAAKGVN TGGREPNTMV EKERPLADKK AQRPFERSDF SDSIKIQTPE
841: LGEVFQNKDS DYLKNDNPEE HLKTSGLAGE PEGELSKEDH ENTEKYMGTE SQGSAAAEPE
901: DDSFHWTPHT SVEPGHSDKR EDLLIISSFF KEQQSLQRFQ KYFNVHELEA LLQEMSSKLK
961: SAQQESLPYN MEKVLDKVFR ASESQILSIA EKMLDTRVAE NRDLGMNENN IFEEAAVLDD
1021: IQDLIYFVRY KHSTAEETAT LVMAPPLEEG LGGAMEEMQP LHEDNFSREK TAELNVQVPE
1081: EPTHLDQRVI GDTHASEVSQ KPNTEKDLDP GPVTTEDTPM DAIDANKQPE TAAEEPASVT
1141: PLENAILLIY SFMFYLTKSL VATLPDDVQP GPDFYGLPWK PVFITAFLGI ASFAIFLWRT
1201: VLVVKDRVYQ VTEQQISEKL KTIMKENTEL VQKLSNYEQK IKESKKHVQE TRKQNMILSD
1261: EAIKYKDKIK TLEKNQEILD DTAKNLRVML ESEREQNVKN QDLISENKKS IEKLKDVISM
1321: NASEFSEVQI ALNEAKLSEE KVKSECHRVQ EENARLKKKK EQLQQEIEDW SKLHAELSEQ
1381: IKSFEKSQKD LEVALTHKDD NINALTNCIT QLNLLECESE SEGQNKGGND SDELANGEVG
1441: GDRNEKMKNQ IKQMMDVSRT QTAISVVEED LKLLQLKLRA SVSTKCNLED QVKKLEDDRN
1501: SLQAAKAGLE DECKTLRQKV EILNELYQQK EMALQKKLSQ EEYERQEREH RLSAADEKAV
1561: SAAEEVKTYK RRIEEMEDEL QKTERSFKNQ IATHEKKAHE NWLKARAAER AIAEEKREAA
1621: NLRHKLLELT QKMAMLQEEP VIVKPMPGKP NTQNPPRRGP LSQNGSFGPS PVSGGECSPP
1681: LTVEPPVRPL SATLNRRDMP RSEFGSVDGP LPHPRWSAEA SGKPSPSDPG SGTATMMNSS
1741: SRGSSPTRVL DEGKVNMAPK GPPPFPGVPL MSTPMGGPVP PPIRYGPPPQ LCGPFGPRPL
1801: PPPFGPGMRP PLGLREFAPG VPPGRRDLPL HPRGFLPGHA PFRPLGSLGP REYFIPGTRL
1861: PPPTHGPQEY PPPPAVRDLL PSGSRDEPPP ASQSTSQDCS QALKQSP