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Protein

Sacsin

Gene

SACS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.1 Publication

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • Hsp70 protein binding Source: BHF-UCL
  • proteasome binding Source: BHF-UCL

GO - Biological processi

  • negative regulation of inclusion body assembly Source: BHF-UCL
  • protein folding Source: UniProtKB

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
Sacsin
Alternative name(s):
DnaJ homolog subfamily C member 29
Short name:
DNAJC29
Gene namesi
Name:SACS
Synonyms:KIAA0730
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000151835.13
HGNCiHGNC:10519 SACS
MIMi604490 gene
neXtProtiNX_Q9NZJ4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic ataxia Charlevoix-Saguenay type (SACS)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.
See also OMIM:270550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064801168D → Y in SACS. 1 Publication1
Natural variantiVAR_064802201T → K in SACS. 1 Publication1
Natural variantiVAR_064803308L → F in SACS. 1 Publication1
Natural variantiVAR_064804556L → P in SACS; associated with Q-2798. 1 Publication1
Natural variantiVAR_064805802L → P in SACS. 1 Publication1
Natural variantiVAR_064806991C → R in SACS. 1 Publication1
Natural variantiVAR_0648071054F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 PublicationCorresponds to variant dbSNP:rs137853019EnsemblClinVar.1
Natural variantiVAR_0648081311M → K in SACS. 1 Publication1
Natural variantiVAR_0648091575R → P in SACS. 1 Publication1
Natural variantiVAR_0648101587H → R in SACS. 1 Publication1
Natural variantiVAR_0648111946W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853017EnsemblClinVar.1
Natural variantiVAR_0648122032Missing in SACS. 1 Publication1
Natural variantiVAR_0648132703R → C in SACS. 1 PublicationCorresponds to variant dbSNP:rs780332615Ensembl.1
Natural variantiVAR_0648142798P → Q in SACS; associated with P-556. 1 PublicationCorresponds to variant dbSNP:rs140551762EnsemblClinVar.1
Natural variantiVAR_0648152801Missing in SACS. 1 Publication1
Natural variantiVAR_0767603118P → PKLP in SACS. 1 Publication1
Natural variantiVAR_0648163248W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853018EnsemblClinVar.1
Natural variantiVAR_0648173481L → P in SACS. 1 Publication1
Natural variantiVAR_0648183636R → Q in SACS; associated with T-3652. 1 PublicationCorresponds to variant dbSNP:rs281865119EnsemblClinVar.1
Natural variantiVAR_0648193645L → P in SACS. 1 Publication1
Natural variantiVAR_0648203652P → T in SACS; associated with Q-3636. 1 PublicationCorresponds to variant dbSNP:rs201505036EnsemblClinVar.1
Natural variantiVAR_0648213653F → S in SACS. 1 Publication1
Natural variantiVAR_0648224074A → P in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853016EnsemblClinVar.1
Natural variantiVAR_0648234331R → Q in SACS. 1 PublicationCorresponds to variant dbSNP:rs773009784Ensembl.1
Natural variantiVAR_0648244343E → K in SACS. 1 PublicationCorresponds to variant dbSNP:rs749383532EnsemblClinVar.1
Natural variantiVAR_0648254508K → T in SACS. 1 Publication1
Natural variantiVAR_0648264549N → D in SACS. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi26278
GeneReviewsiSACS
MalaCardsiSACS
MIMi270550 phenotype
OpenTargetsiENSG00000151835
Orphaneti98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
PharmGKBiPA34927

Polymorphism and mutation databases

BioMutaiSACS
DMDMi122066060

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975631 – 4579SacsinAdd BLAST4579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei943N6-acetyllysineCombined sources1
Modified residuei1779PhosphoserineCombined sources1
Modified residuei2511PhosphoserineBy similarity1
Modified residuei2516PhosphothreonineBy similarity1
Modified residuei3435PhosphoserineCombined sources1
Modified residuei4261PhosphothreonineBy similarity1
Modified residuei4264PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NZJ4
MaxQBiQ9NZJ4
PaxDbiQ9NZJ4
PeptideAtlasiQ9NZJ4
PRIDEiQ9NZJ4
ProteomicsDBi83414
83415 [Q9NZJ4-2]

PTM databases

iPTMnetiQ9NZJ4
PhosphoSitePlusiQ9NZJ4

Expressioni

Tissue specificityi

Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.

Gene expression databases

BgeeiENSG00000151835
CleanExiHS_SACS
ExpressionAtlasiQ9NZJ4 baseline and differential
GenevisibleiQ9NZJ4 HS

Organism-specific databases

HPAiCAB017714

Interactioni

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • Hsp70 protein binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi117661, 20 interactors
IntActiQ9NZJ4, 12 interactors
MINTiQ9NZJ4
STRINGi9606.ENSP00000371729

Structurei

Secondary structure

14579
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi31 – 42Combined sources12
Helixi46 – 48Combined sources3
Beta strandi50 – 53Combined sources4
Helixi64 – 67Combined sources4
Beta strandi77 – 79Combined sources3
Beta strandi89 – 91Combined sources3
Helixi96 – 106Combined sources11
Helixi112 – 123Combined sources12
Beta strandi127 – 134Combined sources8
Beta strandi140 – 144Combined sources5
Helixi146 – 151Combined sources6
Beta strandi155 – 162Combined sources8
Helixi166 – 172Combined sources7
Beta strandi175 – 177Combined sources3
Helixi193 – 199Combined sources7
Beta strandi205 – 209Combined sources5
Beta strandi211 – 215Combined sources5
Beta strandi227 – 232Combined sources6
Turni233 – 236Combined sources4
Helixi237 – 242Combined sources6
Helixi244 – 247Combined sources4
Helixi248 – 250Combined sources3
Beta strandi251 – 253Combined sources3
Helixi258 – 263Combined sources6
Beta strandi266 – 274Combined sources9
Helixi289 – 308Combined sources20
Beta strandi315 – 321Combined sources7
Beta strandi327 – 334Combined sources8
Helixi4307 – 4316Combined sources10
Helixi4323 – 4335Combined sources13
Turni4338 – 4340Combined sources3
Beta strandi4341 – 4343Combined sources3
Helixi4345 – 4365Combined sources21
Beta strandi4369 – 4373Combined sources5
Helixi4444 – 4461Combined sources18
Helixi4462 – 4464Combined sources3
Turni4465 – 4468Combined sources4
Helixi4470 – 4493Combined sources24
Helixi4502 – 4510Combined sources9
Helixi4514 – 4516Combined sources3
Helixi4519 – 4528Combined sources10
Turni4533 – 4537Combined sources5
Helixi4539 – 4541Combined sources3
Helixi4548 – 4551Combined sources4
Helixi4554 – 4576Combined sources23

3D structure databases

ProteinModelPortaliQ9NZJ4
SMRiQ9NZJ4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NZJ4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini9 – 84Ubiquitin-likePROSITE-ProRule annotationAdd BLAST76
Domaini4306 – 4393JPROSITE-ProRule annotationAdd BLAST88
Domaini4451 – 4567HEPNPROSITE-ProRule annotationAdd BLAST117

Domaini

The ubiquitin-like domain mediates interaction with the proteasome.1 Publication
The J domain is functional and is shown to stimulate E.coli dnaK ATPase activity.1 Publication

Phylogenomic databases

eggNOGiENOG410IGIN Eukaryota
ENOG410XQZM LUCA
GeneTreeiENSGT00390000016695
HOVERGENiHBG093399
InParanoidiQ9NZJ4
KOiK17592
OMAiYCDIKVD
OrthoDBiEOG091G007C
PhylomeDBiQ9NZJ4
TreeFamiTF331145

Family and domain databases

Gene3Di1.10.287.110, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR036890 HATPase_C_sf
IPR007842 HEPN_dom
IPR036869 J_dom_sf
IPR029071 Ubiquitin-like_domsf
IPR000626 Ubiquitin_dom
PfamiView protein in Pfam
PF05168 HEPN, 1 hit
PF00240 ubiquitin, 1 hit
SMARTiView protein in SMART
SM00748 HEPN, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF54236 SSF54236, 1 hit
SSF55874 SSF55874, 3 hits
PROSITEiView protein in PROSITE
PS50076 DNAJ_2, 1 hit
PS50910 HEPN, 1 hit
PS50053 UBIQUITIN_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NZJ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR
60 70 80 90 100
LWRGGRELSD WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL
110 120 130 140 150
KDILRRYPEG GQILKELIQN AEDAGATEVK FLYDETQYGT ETLWSKDMAP
160 170 180 190 200
YQGPALYVYN NAVFTPEDWH GIQEIARSRK KDDPLKVGRF GIGFNSVYHI
210 220 230 240 250
TDVPCIFSGD QIGMLDPHQT LFGPHESGQC WNLKDDSKEI SELSDQFAPF
260 270 280 290 300
VGIFGSTKET FINGNFPGTF FRFPLRLQPS QLSSNLYNKQ KVLELFESFR
310 320 330 340 350
ADADTVLLFL KSVQDVSLYV READGTEKLV FRVTSSESKA LKHERPNSIK
360 370 380 390 400
ILGTAISNYC KKTPSNNITC VTYHVNIVLE EESTKDAQKT SWLVCNSVGG
410 420 430 440 450
RGISSKLDSL ADELKFVPII GIAMPLSSRD DEAKGATSDF SGKAFCFLPL
460 470 480 490 500
PPGEESSTGL PVHISGFFGL TDNRRSIKWR ELDQWRDPAA LWNEFLVMNV
510 520 530 540 550
VPKAYATLIL DSIKRLEMEK SSDFPLSVDV IYKLWPEASK VKVHWQPVLE
560 570 580 590 600
PLFSELLQNA VIYSISCDWV RLEQVYFSEL DENLEYTKTV LNYLQSSGKQ
610 620 630 640 650
IAKVPGNVDA AVQLTAASGT TPVRKVTPAW VRQVLRKCAH LGCAEEKLHL
660 670 680 690 700
LEFVLSDQAY SELLGLELLP LQNGNFVPFS SSVSDQDVIY ITSAEYPRSL
710 720 730 740 750
FPSLEGRFIL DNLKPHLVAA LKEAAQTRGR PCTQLQLLNP ERFARLIKEV
760 770 780 790 800
MNTFWPGREL IVQWYPFDEN RNHPSVSWLK MVWKNLYIHF SEDLTLFDEM
810 820 830 840 850
PLIPRTILEE GQTCVELIRL RIPSLVILDD ESEAQLPEFL ADIVQKLGGF
860 870 880 890 900
VLKKLDASIQ HPLIKKYIHS PLPSAVLQIM EKMPLQKLCN QITSLLPTHK
910 920 930 940 950
DALRKFLASL TDSSEKEKRI IQELAIFKRI NHSSDQGISS YTKLKGCKVL
960 970 980 990 1000
HHTAKLPADL RLSISVIDSS DEATIRLANM LKIEQLKTTS CLKLVLKDIE
1010 1020 1030 1040 1050
NAFYSHEEVT QLMLWVLENL SSLKNENPNV LEWLTPLKFI QISQEQMVSA
1060 1070 1080 1090 1100
GELFDPDIEV LKDLFCNEEG TYFPPSVFTS PDILHSLRQI GLKNEASLKE
1110 1120 1130 1140 1150
KDVVQVAKKI EALQVGACPD QDVLLKKAKT LLLVLNKNHT LLQSSEGKMT
1160 1170 1180 1190 1200
LKKIKWVPAC KERPPNYPGS LVWKGDLCNL CAPPDMCDVG HAILIGSSLP
1210 1220 1230 1240 1250
LVESIHVNLE KALGIFTKPS LSAVLKHFKI VVDWYSSKTF SDEDYYQFQH
1260 1270 1280 1290 1300
ILLEIYGFMH DHLNEGKDSF RALKFPWVWT GKKFCPLAQA VIKPIHDLDL
1310 1320 1330 1340 1350
QPYLHNVPKT MAKFHQLFKV CGSIEELTSD HISMVIQKIY LKSDQDLSEQ
1360 1370 1380 1390 1400
ESKQNLHLML NIIRWLYSNQ IPASPNTPVP IHHSKNPSKL IMKPIHECCY
1410 1420 1430 1440 1450
CDIKVDDLND LLEDSVEPII LVHEDIPMKT AEWLKVPCLS TRLINPENMG
1460 1470 1480 1490 1500
FEQSGQREPL TVRIKNILEE YPSVSDIFKE LLQNADDANA TECSFLIDMR
1510 1520 1530 1540 1550
RNMDIRENLL DPGMAACHGP ALWSFNNSQF SDSDFVNITR LGESLKRGEV
1560 1570 1580 1590 1600
DKVGKFGLGF NSVYHITDIP IIMSREFMIM FDPNINHISK HIKDKSNPGI
1610 1620 1630 1640 1650
KINWSKQQKR LRKFPNQFKP FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT
1660 1670 1680 1690 1700
QQEAKVSEVS STCYNTADIY SLVDEFSLCG HRLIIFTQSV KSMYLKYLKI
1710 1720 1730 1740 1750
EETNPSLAQD TVIIKKKSCS SKALNTPVLS VLKEAAKLMK TCSSSNKKLP
1760 1770 1780 1790 1800
SDEPKSSCIL QITVEEFHHV FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ
1810 1820 1830 1840 1850
SKKPSDELSQ KTVECTTWLL CTCMDTGEAL KFSLSESGRR LGLVPCGAVG
1860 1870 1880 1890 1900
VQLSEIQDQK WTVKPHIGEV FCYLPLRIKT GLPVHINGCF AVTSNRKEIW
1910 1920 1930 1940 1950
KTDTKGRWNT TFMRHVIVKA YLQVLSVLRD LATSGELMDY TYYAVWPDPD
1960 1970 1980 1990 2000
LVHDDFSVIC QGFYEDIAHG KGKELTKVFS DGSTWVSMKN VRFLDDSILK
2010 2020 2030 2040 2050
RRDVGSAAFK IFLKYLKKTG SKNLCAVELP SSVKLGFEEA GCKQILLENT
2060 2070 2080 2090 2100
FSEKQFFSEV FFPNIQEIEA ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC
2110 2120 2130 2140 2150
SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR FPYGSTQDYL NPIILIKLVQ
2160 2170 2180 2190 2200
LGMAKDDILW DDMLERAVSV AEINKSDHVA ACLRSSILLS LIDEKLKIRD
2210 2220 2230 2240 2250
PRAKDFAAKY QTIRFLPFLT KPAGFSLDWK GNSFKPETMF AATDLYTAEH
2260 2270 2280 2290 2300
QDIVCLLQPI LNENSHSFRG CGSVSLAVKE FLGLLKKPTV DLVINQLKEV
2310 2320 2330 2340 2350
AKSVDDGITL YQENITNACY KYLHEALMQN EITKMSIIDK LKPFSFILVE
2360 2370 2380 2390 2400
NAYVDSEKVS FHLNFEAAPY LYQLPNKYKN NFRELFETVG VRQSCTVEDF
2410 2420 2430 2440 2450
ALVLESIDQE RGTKQITEEN FQLCRRIISE GIWSLIREKK QEFCEKNYGK
2460 2470 2480 2490 2500
ILLPDTNLML LPAKSLCYND CPWIKVKDTT VKYCHADIPR EVAVKLGAVP
2510 2520 2530 2540 2550
KRHKALERYA SNVCFTTLGT EFGQKEKLTS RIKSILNAYP SEKEMLKELL
2560 2570 2580 2590 2600
QNADDAKATE ICFVFDPRQH PVDRIFDDKW APLQGPALCV YNNQPFTEDD
2610 2620 2630 2640 2650
VRGIQNLGKG TKEGNPYKTG QYGIGFNSVY HITDCPSFIS GNDILCIFDP
2660 2670 2680 2690 2700
HARYAPGATS ISPGRMFRDL DADFRTQFSD VLDLYLGTHF KLDNCTMFRF
2710 2720 2730 2740 2750
PLRNAEMAKV SEISSVPASD RMVQNLLDKL RSDGAELLMF LNHMEKISIC
2760 2770 2780 2790 2800
EIDKSTGALN VLYSVKGKIT DGDRLKRKQF HASVIDSVTK KRQLKDIPVQ
2810 2820 2830 2840 2850
QITYTMDTED SEGNLTTWLI CNRSGFSSME KVSKSVISAH KNQDITLFPR
2860 2870 2880 2890 2900
GGVAACITHN YKKPHRAFCF LPLSLETGLP FHVNGHFALD SARRNLWRDD
2910 2920 2930 2940 2950
NGVGVRSDWN NSLMTALIAP AYVELLIQLK KRYFPGSDPT LSVLQNTPIH
2960 2970 2980 2990 3000
VVKDTLKKFL SFFPVNRLDL QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN
3010 3020 3030 3040 3050
IDGSDLHSAV IITWINMSTS NKTRPFFDNL LQDELQHLKN ADYNITTRKT
3060 3070 3080 3090 3100
VAENVYRLKH LLLEIGFNLV YNCDETANLY HCLIDADIPV SYVTPADIRS
3110 3120 3130 3140 3150
FLMTFSSPDT NCHIGKLPCR LQQTNLKLFH SLKLLVDYCF KDAEENEIEV
3160 3170 3180 3190 3200
EGLPLLITLD SVLQTFDAKR PKFLTTYHEL IPSRKDLFMN TLYLKYSNIL
3210 3220 3230 3240 3250
LNCKVAKVFD ISSFADLLSS VLPREYKTKS CTKWKDNFAS ESWLKNAWHF
3260 3270 3280 3290 3300
ISESVSVKED QEETKPTFDI VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV
3310 3320 3330 3340 3350
LLPLSLMHIA VFPNAQSDKV FHALMKAGCI QLALNKICSK DSAFVPLLSC
3360 3370 3380 3390 3400
HTANIESPTS ILKALHYMVQ TSTFRAEKLV ENDFEALLMY FNCNLNHLMS
3410 3420 3430 3440 3450
QDDIKILKSL PCYKSISGRY VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS
3460 3470 3480 3490 3500
AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH LLPKIENLSY DAKLEHLIYL
3510 3520 3530 3540 3550
KNRLSSAEEL SEIKEQLFEK LESLLIIHDA NSRLKQAKHF YDRTVRVFEV
3560 3570 3580 3590 3600
MLPEKLFIPN DFFKKLEQLI KPKNHVTFMT SWVEFLRNIG LKYILSQQQL
3610 3620 3630 3640 3650
LQFAKEISVR ANTENWSKET LQNTVDILLH HIFQERMDLL SGNFLKELSL
3660 3670 3680 3690 3700
IPFLCPERAP AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK FKQCDVLQLL
3710 3720 3730 3740 3750
WTSCPILPEK ATPLSIKEQE GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN
3760 3770 3780 3790 3800
NCRNICNITT LDEEMVKTRA KVLRSIYEFL SAEKREFRFQ LRGVAFVMVE
3810 3820 3830 3840 3850
DGWKLLKPEE VVINLEYESD FKPYLYKLPL ELGTFHQLFK HLGTEDIIST
3860 3870 3880 3890 3900
KQYVEVLSRI FKNSEGKQLD PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE
3910 3920 3930 3940 3950
NVRDLALYLP SQDGRLVKSS ILVFDDAPHY KSRIQGNIGV QMLVDLSQCY
3960 3970 3980 3990 4000
LGKDHGFHTK LIMLFPQKLR PRLLSSILEE QLDEETPKVC QFGALCSLQG
4010 4020 4030 4040 4050
RLQLLLSSEQ FITGLIRIMK HENDNAFLAN EEKAIRLCKA LREGLKVSCF
4060 4070 4080 4090 4100
EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG NAVILLYIQH SDSKDINFLL
4110 4120 4130 4140 4150
ALAMTLKSAT DNLISDTSYL IAMLGCNDIY RIGEKLDSLG VKYDSSEPSK
4160 4170 4180 4190 4200
LELPMPGTPI PAEIHYTLLM DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT
4210 4220 4230 4240 4250
YTYAIIVQEV EREDADNSSF LGKIYQIDIG YSEYKIVSSL DLYKFSRPEE
4260 4270 4280 4290 4300
SSQSRDSAPS TPTSPTEFLT PGLRSIPPLF SGRESHKTSS KHQSPKKLKV
4310 4320 4330 4340 4350
NSLPEILKEV TSVVEQAWKL PESERKKIIR RLYLKWHPDK NPENHDIANE
4360 4370 4380 4390 4400
VFKHLQNEIN RLEKQAFLDQ NADRASRRTF STSASRFQSD KYSFQRFYTS
4410 4420 4430 4440 4450
WNQEATSHKS ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS VGNPVEARRW
4460 4470 4480 4490 4500
LRQARANFSA ARNDLHKNAN EWVCFKCYLS TKLALIAADY AVRGKSDKDV
4510 4520 4530 4540 4550
KPTALAQKIE EYSQQLEGLT NDVHTLEAYG VDSLKTRYPD LLPFPQIPND
4560 4570
RFTSEVAMRV MECTACIIIK LENFMQQKV
Length:4,579
Mass (Da):521,126
Last modified:January 9, 2007 - v2
Checksum:i84D7F36903F4518D
GO
Isoform 2 (identifier: Q9NZJ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-750: Missing.

Note: No experimental confirmation available.
Show »
Length:3,829
Mass (Da):436,976
Checksum:i7AE990311E1E3E91
GO

Sequence cautioni

The sequence BAC03486 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH18265 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti730 – 750RPCTQ…LIKEV → FLFDEDSNGKLKMVAVLITS C in BAC03486 (PubMed:14702039).CuratedAdd BLAST21
Sequence conflicti812 – 832QTCVE…LDDES → FLFDEDSNGKLKMVAVLITS C in CAE45964 (PubMed:17974005).CuratedAdd BLAST21
Sequence conflicti1827G → R in CAH18265 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064801168D → Y in SACS. 1 Publication1
Natural variantiVAR_064802201T → K in SACS. 1 Publication1
Natural variantiVAR_059716232N → K. Corresponds to variant dbSNP:rs2031640EnsemblClinVar.1
Natural variantiVAR_064803308L → F in SACS. 1 Publication1
Natural variantiVAR_064804556L → P in SACS; associated with Q-2798. 1 Publication1
Natural variantiVAR_059717694A → T. Corresponds to variant dbSNP:rs17325713EnsemblClinVar.1
Natural variantiVAR_064805802L → P in SACS. 1 Publication1
Natural variantiVAR_064806991C → R in SACS. 1 Publication1
Natural variantiVAR_0648071054F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 PublicationCorresponds to variant dbSNP:rs137853019EnsemblClinVar.1
Natural variantiVAR_0648081311M → K in SACS. 1 Publication1
Natural variantiVAR_0648091575R → P in SACS. 1 Publication1
Natural variantiVAR_0648101587H → R in SACS. 1 Publication1
Natural variantiVAR_0359861795M → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0648111946W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853017EnsemblClinVar.1
Natural variantiVAR_0597182017K → N. Corresponds to variant dbSNP:rs35865691EnsemblClinVar.1
Natural variantiVAR_0648122032Missing in SACS. 1 Publication1
Natural variantiVAR_0648132703R → C in SACS. 1 PublicationCorresponds to variant dbSNP:rs780332615Ensembl.1
Natural variantiVAR_0648142798P → Q in SACS; associated with P-556. 1 PublicationCorresponds to variant dbSNP:rs140551762EnsemblClinVar.1
Natural variantiVAR_0648152801Missing in SACS. 1 Publication1
Natural variantiVAR_0597192958K → R. Corresponds to variant dbSNP:rs11839380EnsemblClinVar.1
Natural variantiVAR_0767603118P → PKLP in SACS. 1 Publication1
Natural variantiVAR_0648163248W → R in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853018EnsemblClinVar.1
Natural variantiVAR_0102963369V → A1 PublicationCorresponds to variant dbSNP:rs17078605EnsemblClinVar.1
Natural variantiVAR_0648173481L → P in SACS. 1 Publication1
Natural variantiVAR_0648183636R → Q in SACS; associated with T-3652. 1 PublicationCorresponds to variant dbSNP:rs281865119EnsemblClinVar.1
Natural variantiVAR_0648193645L → P in SACS. 1 Publication1
Natural variantiVAR_0648203652P → T in SACS; associated with Q-3636. 1 PublicationCorresponds to variant dbSNP:rs201505036EnsemblClinVar.1
Natural variantiVAR_0648213653F → S in SACS. 1 Publication1
Natural variantiVAR_0597203678P → A. Corresponds to variant dbSNP:rs17078601EnsemblClinVar.1
Natural variantiVAR_0697753702T → A Probable disease-associated mutation found in non-ataxic spastic paraplegia with peripheral neuropathy. 1 Publication1
Natural variantiVAR_0648224074A → P in SACS. 1 PublicationCorresponds to variant dbSNP:rs137853016EnsemblClinVar.1
Natural variantiVAR_0597214217N → D. Corresponds to variant dbSNP:rs35799469EnsemblClinVar.1
Natural variantiVAR_0648234331R → Q in SACS. 1 PublicationCorresponds to variant dbSNP:rs773009784Ensembl.1
Natural variantiVAR_0648244343E → K in SACS. 1 PublicationCorresponds to variant dbSNP:rs749383532EnsemblClinVar.1
Natural variantiVAR_0648254508K → T in SACS. 1 Publication1
Natural variantiVAR_0648264549N → D in SACS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0223251 – 750Missing in isoform 2. CuratedAdd BLAST750

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF193556 Genomic DNA Translation: AAF31262.1
AL157766 Genomic DNA No translation available.
BX640926 mRNA Translation: CAE45964.1
CR749427 mRNA Translation: CAH18265.1 Different initiation.
AK090599 mRNA Translation: BAC03486.1 Different initiation.
AB018273 mRNA Translation: BAA34450.1
CCDSiCCDS9300.2 [Q9NZJ4-1]
RefSeqiNP_055178.3, NM_014363.5 [Q9NZJ4-1]
UniGeneiHs.159492

Genome annotation databases

EnsembliENST00000382292; ENSP00000371729; ENSG00000151835 [Q9NZJ4-1]
ENST00000402364; ENSP00000385844; ENSG00000151835 [Q9NZJ4-2]
GeneIDi26278
KEGGihsa:26278
UCSCiuc001uon.3 human [Q9NZJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSACS_HUMAN
AccessioniPrimary (citable) accession number: Q9NZJ4
Secondary accession number(s): O94835
, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 9, 2007
Last modified: June 20, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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