Sacsin (SACS)
Homo sapiens — UniProt Q9NZJ4
Gene: SACSHomo sapiensSwissProt reviewed
Data last refreshed: (UniProt release unknown)
Key facts
Sacsin (SACS) is a protein from Homo sapiens identified by UniProt accession Q9NZJ4, 4579 residues long. MolForge cross-references it against 0 known binders and 410 disease associations.
- UniProt accession: Q9NZJ4; gene symbol SACS.
- Organism: Homo sapiens.
- Length: 4579 amino acids.
- Top disease associations (Open Targets): Autosomal recessive spastic ataxia of Charlevoix-Saguenay, Charlevoix-Saguenay spastic ataxia and autosomal recessive limb-girdle muscular dystrophy type 2C.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Sacsin |
|---|---|
| UniProt accession | Q9NZJ4 |
| Gene | SACS |
| Organism | Homo sapiens |
| Length | 4579 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | — |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
|---|---|
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (410)
Diseases linked to this target (Open Targets).
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay · score 0.81
- Charlevoix-Saguenay spastic ataxia · score 0.80
- autosomal recessive limb-girdle muscular dystrophy type 2C · score 0.58
- Spastic paraplegia · score 0.56
- hereditary spastic paraplegia · score 0.54
- genetic disorder · score 0.54
- autosomal recessive spastic ataxia · score 0.48
- Abnormal central motor function · score 0.44
- autosomal recessive limb-girdle muscular dystrophy · score 0.41
- ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability · score 0.34
3D Structure (10)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q9NZJ4-F12 | alphafold | PREDICTED | 86.82 | — |
| AF-Q9NZJ4-F11 | alphafold | PREDICTED | 86.16 | — |
| AF-Q9NZJ4-F6 | alphafold | PREDICTED | 85.77 | — |
| AF-Q9NZJ4-F13 | alphafold | PREDICTED | 85.23 | — |
| AF-Q9NZJ4-F10 | alphafold | PREDICTED | 84.76 | — |
| AF-Q9NZJ4-F5 | alphafold | PREDICTED | 84.58 | — |
| AF-Q9NZJ4-F14 | alphafold | PREDICTED | 84.01 | — |
| AF-Q9NZJ4-F1 | alphafold | PREDICTED | 83.93 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9NZJ4.
Amino-acid sequence (4579 residues)
METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR LWRGGRELSD WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL KDILRRYPEG GQILKELIQN AEDAGATEVK FLYDETQYGT ETLWSKDMAP YQGPALYVYN NAVFTPEDWH GIQEIARSRK KDDPLKVGRF GIGFNSVYHI TDVPCIFSGD QIGMLDPHQT LFGPHESGQC WNLKDDSKEI SELSDQFAPF VGIFGSTKET FINGNFPGTF FRFPLRLQPS QLSSNLYNKQ KVLELFESFR ADADTVLLFL KSVQDVSLYV READGTEKLV FRVTSSESKA LKHERPNSIK ILGTAISNYC KKTPSNNITC VTYHVNIVLE EESTKDAQKT SWLVCNSVGG RGISSKLDSL ADELKFVPII GIAMPLSSRD DEAKGATSDF SGKAFCFLPL PPGEESSTGL PVHISGFFGL TDNRRSIKWR ELDQWRDPAA LWNEFLVMNV VPKAYATLIL DSIKRLEMEK SSDFPLSVDV IYKLWPEASK VKVHWQPVLE PLFSELLQNA VIYSISCDWV RLEQVYFSEL DENLEYTKTV LNYLQSSGKQ IAKVPGNVDA AVQLTAASGT TPVRKVTPAW VRQVLRKCAH LGCAEEKLHL LEFVLSDQAY SELLGLELLP LQNGNFVPFS SSVSDQDVIY ITSAEYPRSL FPSLEGRFIL DNLKPHLVAA LKEAAQTRGR PCTQLQLLNP ERFARLIKEV MNTFWPGREL IVQWYPFDEN RNHPSVSWLK MVWKNLYIHF SEDLTLFDEM PLIPRTILEE GQTCVELIRL RIPSLVILDD ESEAQLPEFL ADIVQKLGGF VLKKLDASIQ HPLIKKYIHS PLPSAVLQIM EKMPLQKLCN QITSLLPTHK DALRKFLASL TDSSEKEKRI IQELAIFKRI NHSSDQGISS YTKLKGCKVL HHTAKLPADL RLSISVIDSS DEATIRLANM LKIEQLKTTS CLKLVLKDIE NAFYSHEEVT QLMLWVLENL SSLKNENPNV LEWLTPLKFI QISQEQMVSA GELFDPDIEV LKDLFCNEEG TYFPPSVFTS PDILHSLRQI GLKNEASLKE KDVVQVAKKI EALQVGACPD QDVLLKKAKT LLLVLNKNHT LLQSSEGKMT LKKIKWVPAC KERPPNYPGS LVWKGDLCNL CAPPDMCDVG HAILIGSSLP LVESIHVNLE KALGIFTKPS LSAVLKHFKI VVDWYSSKTF SDEDYYQFQH ILLEIYGFMH DHLNEGKDSF RALKFPWVWT GKKFCPLAQA VIKPIHDLDL QPYLHNVPKT MAKFHQLFKV CGSIEELTSD HISMVIQKIY LKSDQDLSEQ ESKQNLHLML NIIRWLYSNQ IPASPNTPVP IHHSKNPSKL IMKPIHECCY CDIKVDDLND LLEDSVEPII LVHEDIPMKT AEWLKVPCLS TRLINPENMG FEQSGQREPL TVRIKNILEE YPSVSDIFKE LLQNADDANA TECSFLIDMR RNMDIRENLL DPGMAACHGP ALWSFNNSQF SDSDFVNITR LGESLKRGEV DKVGKFGLGF NSVYHITDIP IIMSREFMIM FDPNINHISK HIKDKSNPGI KINWSKQQKR LRKFPNQFKP FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT QQEAKVSEVS STCYNTADIY SLVDEFSLCG HRLIIFTQSV KSMYLKYLKI EETNPSLAQD TVIIKKKSCS SKALNTPVLS VLKEAAKLMK TCSSSNKKLP SDEPKSSCIL QITVEEFHHV FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ SKKPSDELSQ KTVECTTWLL CTCMDTGEAL KFSLSESGRR LGLVPCGAVG VQLSEIQDQK WTVKPHIGEV FCYLPLRIKT GLPVHINGCF AVTSNRKEIW KTDTKGRWNT TFMRHVIVKA YLQVLSVLRD LATSGELMDY TYYAVWPDPD LVHDDFSVIC QGFYEDIAHG KGKELTKVFS DGSTWVSMKN VRFLDDSILK RRDVGSAAFK IFLKYLKKTG SKNLCAVELP SSVKLGFEEA GCKQILLENT FSEKQFFSEV FFPNIQEIEA ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR FPYGSTQDYL NPIILIKLVQ LGMAKDDILW DDMLERAVSV AEINKSDHVA ACLRSSILLS LIDEKLKIRD PRAKDFAAKY QTIRFLPFLT KPAGFSLDWK GNSFKPETMF AATDLYTAEH QDIVCLLQPI LNENSHSFRG CGSVSLAVKE FLGLLKKPTV DLVINQLKEV AKSVDDGITL YQENITNACY KYLHEALMQN EITKMSIIDK LKPFSFILVE NAYVDSEKVS FHLNFEAAPY LYQLPNKYKN NFRELFETVG VRQSCTVEDF ALVLESIDQE RGTKQITEEN FQLCRRIISE GIWSLIREKK QEFCEKNYGK ILLPDTNLML LPAKSLCYND CPWIKVKDTT VKYCHADIPR EVAVKLGAVP KRHKALERYA SNVCFTTLGT EFGQKEKLTS RIKSILNAYP SEKEMLKELL QNADDAKATE ICFVFDPRQH PVDRIFDDKW APLQGPALCV YNNQPFTEDD VRGIQNLGKG TKEGNPYKTG QYGIGFNSVY HITDCPSFIS GNDILCIFDP HARYAPGATS ISPGRMFRDL DADFRTQFSD VLDLYLGTHF KLDNCTMFRF PLRNAEMAKV SEISSVPASD RMVQNLLDKL RSDGAELLMF LNHMEKISIC EIDKSTGALN VLYSVKGKIT DGDRLKRKQF HASVIDSVTK KRQLKDIPVQ QITYTMDTED SEGNLTTWLI CNRSGFSSME KVSKSVISAH KNQDITLFPR GGVAACITHN YKKPHRAFCF LPLSLETGLP FHVNGHFALD SARRNLWRDD NGVGVRSDWN NSLMTALIAP AYVELLIQLK KRYFPGSDPT LSVLQNTPIH VVKDTLKKFL SFFPVNRLDL QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN IDGSDLHSAV IITWINMSTS NKTRPFFDNL LQDELQHLKN ADYNITTRKT VAENVYRLKH LLLEIGFNLV YNCDETANLY HCLIDADIPV SYVTPADIRS FLMTFSSPDT NCHIGKLPCR LQQTNLKLFH SLKLLVDYCF KDAEENEIEV EGLPLLITLD SVLQTFDAKR PKFLTTYHEL IPSRKDLFMN TLYLKYSNIL LNCKVAKVFD ISSFADLLSS VLPREYKTKS CTKWKDNFAS ESWLKNAWHF ISESVSVKED QEETKPTFDI VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV LLPLSLMHIA VFPNAQSDKV FHALMKAGCI QLALNKICSK DSAFVPLLSC HTANIESPTS ILKALHYMVQ TSTFRAEKLV ENDFEALLMY FNCNLNHLMS QDDIKILKSL PCYKSISGRY VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH LLPKIENLSY DAKLEHLIYL KNRLSSAEEL SEIKEQLFEK LESLLIIHDA NSRLKQAKHF YDRTVRVFEV MLPEKLFIPN DFFKKLEQLI KPKNHVTFMT SWVEFLRNIG LKYILSQQQL LQFAKEISVR ANTENWSKET LQNTVDILLH HIFQERMDLL SGNFLKELSL IPFLCPERAP AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK FKQCDVLQLL WTSCPILPEK ATPLSIKEQE GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN NCRNICNITT LDEEMVKTRA KVLRSIYEFL SAEKREFRFQ LRGVAFVMVE DGWKLLKPEE VVINLEYESD FKPYLYKLPL ELGTFHQLFK HLGTEDIIST KQYVEVLSRI FKNSEGKQLD PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE NVRDLALYLP SQDGRLVKSS ILVFDDAPHY KSRIQGNIGV QMLVDLSQCY LGKDHGFHTK LIMLFPQKLR PRLLSSILEE QLDEETPKVC QFGALCSLQG RLQLLLSSEQ FITGLIRIMK HENDNAFLAN EEKAIRLCKA LREGLKVSCF EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG NAVILLYIQH SDSKDINFLL ALAMTLKSAT DNLISDTSYL IAMLGCNDIY RIGEKLDSLG VKYDSSEPSK LELPMPGTPI PAEIHYTLLM DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT YTYAIIVQEV EREDADNSSF LGKIYQIDIG YSEYKIVSSL DLYKFSRPEE SSQSRDSAPS TPTSPTEFLT PGLRSIPPLF SGRESHKTSS KHQSPKKLKV NSLPEILKEV TSVVEQAWKL PESERKKIIR RLYLKWHPDK NPENHDIANE VFKHLQNEIN RLEKQAFLDQ NADRASRRTF STSASRFQSD KYSFQRFYTS WNQEATSHKS ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS VGNPVEARRW LRQARANFSA ARNDLHKNAN EWVCFKCYLS TKLALIAADY AVRGKSDKDV KPTALAQKIE EYSQQLEGLT NDVHTLEAYG VDSLKTRYPD LLPFPQIPND RFTSEVAMRV MECTACIIIK LENFMQQKV
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with SACS?
The strongest Open Targets associations for SACS are Autosomal recessive spastic ataxia of Charlevoix-Saguenay, Charlevoix-Saguenay spastic ataxia, autosomal recessive limb-girdle muscular dystrophy type 2C, Spastic paraplegia and hereditary spastic paraplegia.
How long is the SACS protein?
The Homo sapiens SACS protein (UniProt Q9NZJ4) is 4579 amino acids long.
Browse: Targets: S · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q9NZJ4 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q9NZJ4 — predicted 3D structure (CC BY 4.0)
- Open Targets Platform — disease associations and tractability (CC0)
How this page is built: methodology · editorial policy & corrections.
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