8.A.126.1.1
The human nuclear receptor coactivator 7 (NCOA7) of 942 aas. It inhibits the V-type ATPase and therefore has multiple consequences, including inhibiting viral entry into vesicles; see family description (Doyle et al. 2018). COA7-related disorders typically encompass a spectrum of conditions
characterized by a variety of major (cerebellar ataxia and axonal
polyneuropathy) and minor (leukoencephalopathy, dystonia, and
parkinsonism) symptoms, but may also display a dystonia-predominant
phenotype (Higuchi et al. 2024).
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| Accession Number: | Q8NI08 |
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| Protein Name: | Nuclear receptor coactivator 7 |
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| Length: | 942 |
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| Molecular Weight: | 106162.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Location1 / Topology2 / Orientation3: |
Nucleus1 |
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| Substrate |
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1: MDTKEEKKER KQSYFARLKK KKQAKQNAET ASAVATRTHT GKEDNNTVVL EPDKCNIAVE
61: EEYMTDEKKK RKSNQLKEIR RTELKRYYSI DDNQNKTHDK KEKKMVVQKP HGTMEYTAGN
121: QDTLNSIALK FNITPNKLVE LNKLFTHTIV PGQVLFVPDA NSPSSTLRLS SSSPGATVSP
181: SSSDAEYDKL PDADLARKAL KPIERVLSST SEEDEPGVVK FLKMNCRYFT DGKGVVGGVM
241: IVTPNNIMFD PHKSDPLVIE NGCEEYGLIC PMEEVVSIAL YNDISHMKIK DALPSDLPQD
301: LCPLYRPGEW EDLASEKDIN PFSKFKSINK EKRQQNGEKI MTSDSRPIVP LEKSTGHTPT
361: KPSGSSVSEK LKKLDSSRET SHGSPTVTKL SKEPSDTSSA FESTAKENFL GEDDDFVDLE
421: ELSSQTGGGM HKKDTLKECL SLDPEERKKA ESQINNSAVE MQVQSALAFL GTENDVELKG
481: ALDLETCEKQ DIMPEVDKQS GSPESRVENT LNIHEDLDKV KLIEYYLTKN KEGPQVSENL
541: QKTELSDGKS IEPGGIDITL SSSLSQAGDP ITEGNKEPDK TWVKKGEPLP VKLNSSTEAN
601: VIKEALDSSL ESTLDNSCQG AQMDNKSEVQ LWLLKRIQVP IEDILPSKEE KSKTPPMFLC
661: IKVGKPMRKS FATHTAAMVQ QYGKRRKQPE YWFAVPRERV DHLYTFFVQW SPDVYGKDAK
721: EQGFVVVEKE ELNMIDNFFS EPTTKSWEII TVEEAKRRKS TCSYYEDEDE EVLPVLRPHS
781: ALLENMHIEQ LARRLPARVQ GYPWRLAYST LEHGTSLKTL YRKSASLDSP VLLVIKDMDN
841: QIFGAYATHP FKFSDHYYGT GETFLYTFSP HFKVFKWSGE NSYFINGDIS SLELGGGGGR
901: FGLWLDADLY HGRSNSCSTF NNDILSKKED FIVQDLEVWA FD