Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9NZJ4 (SACS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sacsin
Alternative name(s):
DnaJ homolog subfamily C member 29
Short name=DNAJC29
Gene names
Name:SACS
Synonyms:KIAA0730
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4579 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. Ref.7

Subcellular location

Cytoplasm. Note: Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. Ref.7

Tissue specificity

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

Domain

The ubiquitin-like domain mediates interaction with the proteasome. Ref.7

The J domain is functional and is shown to stimulate E.coli dnaK ATPase activity. Ref.7

Involvement in disease

Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26

Sequence similarities

Contains 1 HEPN domain.

Contains 1 J domain.

Contains 1 ubiquitin-like domain.

Sequence caution

The sequence BAC03486.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAH18265.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZJ4-1)

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.
Isoform 2 (identifier: Q9NZJ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-750: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 45794579Sacsin
PRO_0000097563

Regions

Domain9 – 8476Ubiquitin-like
Domain4306 – 439388J
Domain4451 – 4567117HEPN

Amino acid modifications

Modified residue9431N6-acetyllysine Ref.10
Modified residue17791Phosphoserine Ref.9 Ref.11
Modified residue34351Phosphoserine Ref.13
Modified residue42641Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 750750Missing in isoform 2.
VSP_022325
Natural variant1681D → Y in SACS. Ref.25
VAR_064801
Natural variant2011T → K in SACS. Ref.26
VAR_064802
Natural variant2321N → K.
Corresponds to variant rs2031640 [ dbSNP | Ensembl ].
VAR_059716
Natural variant3081L → F in SACS. Ref.21
VAR_064803
Natural variant5561L → P in SACS; associated with Q-2798. Ref.26
VAR_064804
Natural variant6941A → T.
Corresponds to variant rs17325713 [ dbSNP | Ensembl ].
VAR_059717
Natural variant8021L → P in SACS. Ref.23
VAR_064805
Natural variant9911C → R in SACS. Ref.26
VAR_064806
Natural variant10541F → S in SACS; atypical phenotype without spasticity or hyperreflexia. Ref.19
VAR_064807
Natural variant13111M → K in SACS. Ref.24
VAR_064808
Natural variant15751R → P in SACS. Ref.26
VAR_064809
Natural variant15871H → R in SACS. Ref.26
VAR_064810
Natural variant17951M → I in a colorectal cancer sample; somatic mutation. Ref.20
VAR_035986
Natural variant19461W → R in SACS. Ref.15
VAR_064811
Natural variant20171K → N.
Corresponds to variant rs35865691 [ dbSNP | Ensembl ].
VAR_059718
Natural variant20321Missing in SACS. Ref.26
VAR_064812
Natural variant27031R → C in SACS. Ref.18
VAR_064813
Natural variant27981P → Q in SACS; associated with P-556. Ref.26
Corresponds to variant rs140551762 [ dbSNP | Ensembl ].
VAR_064814
Natural variant28011Missing in SACS. Ref.25
VAR_064815
Natural variant29581K → R.
Corresponds to variant rs11839380 [ dbSNP | Ensembl ].
VAR_059719
Natural variant32481W → R in SACS. Ref.17
VAR_064816
Natural variant33691V → A. Ref.1
Corresponds to variant rs17078605 [ dbSNP | Ensembl ].
VAR_010296
Natural variant34811L → P in SACS. Ref.25
VAR_064817
Natural variant36361R → Q in SACS; associated with T-3652. Ref.26
VAR_064818
Natural variant36451L → P in SACS. Ref.26
VAR_064819
Natural variant36521P → T in SACS; associated with Q-3636. Ref.26
Corresponds to variant rs201505036 [ dbSNP | Ensembl ].
VAR_064820
Natural variant36531F → S in SACS. Ref.22
VAR_064821
Natural variant36781P → A.
Corresponds to variant rs17078601 [ dbSNP | Ensembl ].
VAR_059720
Natural variant37021T → A Probable disease-associated mutation found in non-ataxic spastic paraplegia with peripheral neuropathy. Ref.27
VAR_069775
Natural variant40741A → P in SACS. Ref.15
VAR_064822
Natural variant42171N → D.
Corresponds to variant rs35799469 [ dbSNP | Ensembl ].
VAR_059721
Natural variant43311R → Q in SACS. Ref.25
VAR_064823
Natural variant43431E → K in SACS. Ref.26
VAR_064824
Natural variant45081K → T in SACS. Ref.26
VAR_064825
Natural variant45491N → D in SACS. Ref.16
VAR_064826

Experimental info

Sequence conflict730 – 75021RPCTQ…LIKEV → FLFDEDSNGKLKMVAVLITS C in BAC03486. Ref.4
Sequence conflict812 – 83221QTCVE…LDDES → FLFDEDSNGKLKMVAVLITS C in CAE45964. Ref.3
Sequence conflict18271G → R in CAH18265. Ref.3

Secondary structure

................................ 4579
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 9, 2007. Version 2.
Checksum: 84D7F36903F4518D

FASTA4,579521,126
        10         20         30         40         50         60 
METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR LWRGGRELSD 

        70         80         90        100        110        120 
WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL KDILRRYPEG GQILKELIQN 

       130        140        150        160        170        180 
AEDAGATEVK FLYDETQYGT ETLWSKDMAP YQGPALYVYN NAVFTPEDWH GIQEIARSRK 

       190        200        210        220        230        240 
KDDPLKVGRF GIGFNSVYHI TDVPCIFSGD QIGMLDPHQT LFGPHESGQC WNLKDDSKEI 

       250        260        270        280        290        300 
SELSDQFAPF VGIFGSTKET FINGNFPGTF FRFPLRLQPS QLSSNLYNKQ KVLELFESFR 

       310        320        330        340        350        360 
ADADTVLLFL KSVQDVSLYV READGTEKLV FRVTSSESKA LKHERPNSIK ILGTAISNYC 

       370        380        390        400        410        420 
KKTPSNNITC VTYHVNIVLE EESTKDAQKT SWLVCNSVGG RGISSKLDSL ADELKFVPII 

       430        440        450        460        470        480 
GIAMPLSSRD DEAKGATSDF SGKAFCFLPL PPGEESSTGL PVHISGFFGL TDNRRSIKWR 

       490        500        510        520        530        540 
ELDQWRDPAA LWNEFLVMNV VPKAYATLIL DSIKRLEMEK SSDFPLSVDV IYKLWPEASK 

       550        560        570        580        590        600 
VKVHWQPVLE PLFSELLQNA VIYSISCDWV RLEQVYFSEL DENLEYTKTV LNYLQSSGKQ 

       610        620        630        640        650        660 
IAKVPGNVDA AVQLTAASGT TPVRKVTPAW VRQVLRKCAH LGCAEEKLHL LEFVLSDQAY 

       670        680        690        700        710        720 
SELLGLELLP LQNGNFVPFS SSVSDQDVIY ITSAEYPRSL FPSLEGRFIL DNLKPHLVAA 

       730        740        750        760        770        780 
LKEAAQTRGR PCTQLQLLNP ERFARLIKEV MNTFWPGREL IVQWYPFDEN RNHPSVSWLK 

       790        800        810        820        830        840 
MVWKNLYIHF SEDLTLFDEM PLIPRTILEE GQTCVELIRL RIPSLVILDD ESEAQLPEFL 

       850        860        870        880        890        900 
ADIVQKLGGF VLKKLDASIQ HPLIKKYIHS PLPSAVLQIM EKMPLQKLCN QITSLLPTHK 

       910        920        930        940        950        960 
DALRKFLASL TDSSEKEKRI IQELAIFKRI NHSSDQGISS YTKLKGCKVL HHTAKLPADL 

       970        980        990       1000       1010       1020 
RLSISVIDSS DEATIRLANM LKIEQLKTTS CLKLVLKDIE NAFYSHEEVT QLMLWVLENL 

      1030       1040       1050       1060       1070       1080 
SSLKNENPNV LEWLTPLKFI QISQEQMVSA GELFDPDIEV LKDLFCNEEG TYFPPSVFTS 

      1090       1100       1110       1120       1130       1140 
PDILHSLRQI GLKNEASLKE KDVVQVAKKI EALQVGACPD QDVLLKKAKT LLLVLNKNHT 

      1150       1160       1170       1180       1190       1200 
LLQSSEGKMT LKKIKWVPAC KERPPNYPGS LVWKGDLCNL CAPPDMCDVG HAILIGSSLP 

      1210       1220       1230       1240       1250       1260 
LVESIHVNLE KALGIFTKPS LSAVLKHFKI VVDWYSSKTF SDEDYYQFQH ILLEIYGFMH 

      1270       1280       1290       1300       1310       1320 
DHLNEGKDSF RALKFPWVWT GKKFCPLAQA VIKPIHDLDL QPYLHNVPKT MAKFHQLFKV 

      1330       1340       1350       1360       1370       1380 
CGSIEELTSD HISMVIQKIY LKSDQDLSEQ ESKQNLHLML NIIRWLYSNQ IPASPNTPVP 

      1390       1400       1410       1420       1430       1440 
IHHSKNPSKL IMKPIHECCY CDIKVDDLND LLEDSVEPII LVHEDIPMKT AEWLKVPCLS 

      1450       1460       1470       1480       1490       1500 
TRLINPENMG FEQSGQREPL TVRIKNILEE YPSVSDIFKE LLQNADDANA TECSFLIDMR 

      1510       1520       1530       1540       1550       1560 
RNMDIRENLL DPGMAACHGP ALWSFNNSQF SDSDFVNITR LGESLKRGEV DKVGKFGLGF 

      1570       1580       1590       1600       1610       1620 
NSVYHITDIP IIMSREFMIM FDPNINHISK HIKDKSNPGI KINWSKQQKR LRKFPNQFKP 

      1630       1640       1650       1660       1670       1680 
FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT QQEAKVSEVS STCYNTADIY SLVDEFSLCG 

      1690       1700       1710       1720       1730       1740 
HRLIIFTQSV KSMYLKYLKI EETNPSLAQD TVIIKKKSCS SKALNTPVLS VLKEAAKLMK 

      1750       1760       1770       1780       1790       1800 
TCSSSNKKLP SDEPKSSCIL QITVEEFHHV FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ 

      1810       1820       1830       1840       1850       1860 
SKKPSDELSQ KTVECTTWLL CTCMDTGEAL KFSLSESGRR LGLVPCGAVG VQLSEIQDQK 

      1870       1880       1890       1900       1910       1920 
WTVKPHIGEV FCYLPLRIKT GLPVHINGCF AVTSNRKEIW KTDTKGRWNT TFMRHVIVKA 

      1930       1940       1950       1960       1970       1980 
YLQVLSVLRD LATSGELMDY TYYAVWPDPD LVHDDFSVIC QGFYEDIAHG KGKELTKVFS 

      1990       2000       2010       2020       2030       2040 
DGSTWVSMKN VRFLDDSILK RRDVGSAAFK IFLKYLKKTG SKNLCAVELP SSVKLGFEEA 

      2050       2060       2070       2080       2090       2100 
GCKQILLENT FSEKQFFSEV FFPNIQEIEA ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC 

      2110       2120       2130       2140       2150       2160 
SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR FPYGSTQDYL NPIILIKLVQ LGMAKDDILW 

      2170       2180       2190       2200       2210       2220 
DDMLERAVSV AEINKSDHVA ACLRSSILLS LIDEKLKIRD PRAKDFAAKY QTIRFLPFLT 

      2230       2240       2250       2260       2270       2280 
KPAGFSLDWK GNSFKPETMF AATDLYTAEH QDIVCLLQPI LNENSHSFRG CGSVSLAVKE 

      2290       2300       2310       2320       2330       2340 
FLGLLKKPTV DLVINQLKEV AKSVDDGITL YQENITNACY KYLHEALMQN EITKMSIIDK 

      2350       2360       2370       2380       2390       2400 
LKPFSFILVE NAYVDSEKVS FHLNFEAAPY LYQLPNKYKN NFRELFETVG VRQSCTVEDF 

      2410       2420       2430       2440       2450       2460 
ALVLESIDQE RGTKQITEEN FQLCRRIISE GIWSLIREKK QEFCEKNYGK ILLPDTNLML 

      2470       2480       2490       2500       2510       2520 
LPAKSLCYND CPWIKVKDTT VKYCHADIPR EVAVKLGAVP KRHKALERYA SNVCFTTLGT 

      2530       2540       2550       2560       2570       2580 
EFGQKEKLTS RIKSILNAYP SEKEMLKELL QNADDAKATE ICFVFDPRQH PVDRIFDDKW 

      2590       2600       2610       2620       2630       2640 
APLQGPALCV YNNQPFTEDD VRGIQNLGKG TKEGNPYKTG QYGIGFNSVY HITDCPSFIS 

      2650       2660       2670       2680       2690       2700 
GNDILCIFDP HARYAPGATS ISPGRMFRDL DADFRTQFSD VLDLYLGTHF KLDNCTMFRF 

      2710       2720       2730       2740       2750       2760 
PLRNAEMAKV SEISSVPASD RMVQNLLDKL RSDGAELLMF LNHMEKISIC EIDKSTGALN 

      2770       2780       2790       2800       2810       2820 
VLYSVKGKIT DGDRLKRKQF HASVIDSVTK KRQLKDIPVQ QITYTMDTED SEGNLTTWLI 

      2830       2840       2850       2860       2870       2880 
CNRSGFSSME KVSKSVISAH KNQDITLFPR GGVAACITHN YKKPHRAFCF LPLSLETGLP 

      2890       2900       2910       2920       2930       2940 
FHVNGHFALD SARRNLWRDD NGVGVRSDWN NSLMTALIAP AYVELLIQLK KRYFPGSDPT 

      2950       2960       2970       2980       2990       3000 
LSVLQNTPIH VVKDTLKKFL SFFPVNRLDL QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN 

      3010       3020       3030       3040       3050       3060 
IDGSDLHSAV IITWINMSTS NKTRPFFDNL LQDELQHLKN ADYNITTRKT VAENVYRLKH 

      3070       3080       3090       3100       3110       3120 
LLLEIGFNLV YNCDETANLY HCLIDADIPV SYVTPADIRS FLMTFSSPDT NCHIGKLPCR 

      3130       3140       3150       3160       3170       3180 
LQQTNLKLFH SLKLLVDYCF KDAEENEIEV EGLPLLITLD SVLQTFDAKR PKFLTTYHEL 

      3190       3200       3210       3220       3230       3240 
IPSRKDLFMN TLYLKYSNIL LNCKVAKVFD ISSFADLLSS VLPREYKTKS CTKWKDNFAS 

      3250       3260       3270       3280       3290       3300 
ESWLKNAWHF ISESVSVKED QEETKPTFDI VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV 

      3310       3320       3330       3340       3350       3360 
LLPLSLMHIA VFPNAQSDKV FHALMKAGCI QLALNKICSK DSAFVPLLSC HTANIESPTS 

      3370       3380       3390       3400       3410       3420 
ILKALHYMVQ TSTFRAEKLV ENDFEALLMY FNCNLNHLMS QDDIKILKSL PCYKSISGRY 

      3430       3440       3450       3460       3470       3480 
VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH 

      3490       3500       3510       3520       3530       3540 
LLPKIENLSY DAKLEHLIYL KNRLSSAEEL SEIKEQLFEK LESLLIIHDA NSRLKQAKHF 

      3550       3560       3570       3580       3590       3600 
YDRTVRVFEV MLPEKLFIPN DFFKKLEQLI KPKNHVTFMT SWVEFLRNIG LKYILSQQQL 

      3610       3620       3630       3640       3650       3660 
LQFAKEISVR ANTENWSKET LQNTVDILLH HIFQERMDLL SGNFLKELSL IPFLCPERAP 

      3670       3680       3690       3700       3710       3720 
AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK FKQCDVLQLL WTSCPILPEK ATPLSIKEQE 

      3730       3740       3750       3760       3770       3780 
GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN NCRNICNITT LDEEMVKTRA KVLRSIYEFL 

      3790       3800       3810       3820       3830       3840 
SAEKREFRFQ LRGVAFVMVE DGWKLLKPEE VVINLEYESD FKPYLYKLPL ELGTFHQLFK 

      3850       3860       3870       3880       3890       3900 
HLGTEDIIST KQYVEVLSRI FKNSEGKQLD PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE 

      3910       3920       3930       3940       3950       3960 
NVRDLALYLP SQDGRLVKSS ILVFDDAPHY KSRIQGNIGV QMLVDLSQCY LGKDHGFHTK 

      3970       3980       3990       4000       4010       4020 
LIMLFPQKLR PRLLSSILEE QLDEETPKVC QFGALCSLQG RLQLLLSSEQ FITGLIRIMK 

      4030       4040       4050       4060       4070       4080 
HENDNAFLAN EEKAIRLCKA LREGLKVSCF EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG 

      4090       4100       4110       4120       4130       4140 
NAVILLYIQH SDSKDINFLL ALAMTLKSAT DNLISDTSYL IAMLGCNDIY RIGEKLDSLG 

      4150       4160       4170       4180       4190       4200 
VKYDSSEPSK LELPMPGTPI PAEIHYTLLM DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT 

      4210       4220       4230       4240       4250       4260 
YTYAIIVQEV EREDADNSSF LGKIYQIDIG YSEYKIVSSL DLYKFSRPEE SSQSRDSAPS 

      4270       4280       4290       4300       4310       4320 
TPTSPTEFLT PGLRSIPPLF SGRESHKTSS KHQSPKKLKV NSLPEILKEV TSVVEQAWKL 

      4330       4340       4350       4360       4370       4380 
PESERKKIIR RLYLKWHPDK NPENHDIANE VFKHLQNEIN RLEKQAFLDQ NADRASRRTF 

      4390       4400       4410       4420       4430       4440 
STSASRFQSD KYSFQRFYTS WNQEATSHKS ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS 

      4450       4460       4470       4480       4490       4500 
VGNPVEARRW LRQARANFSA ARNDLHKNAN EWVCFKCYLS TKLALIAADY AVRGKSDKDV 

      4510       4520       4530       4540       4550       4560 
KPTALAQKIE EYSQQLEGLT NDVHTLEAYG VDSLKTRYPD LLPFPQIPND RFTSEVAMRV 

      4570 
MECTACIIIK LENFMQQKV 

« Hide

Isoform 2 [UniParc].

Checksum: 7AE990311E1E3E91
Show »

FASTA3,829436,976

References

« Hide 'large scale' references
[1]"ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF."
Engert J.C., Berube P., Mercier J., Dore C., Lepage P., Ge B., Bouchard J.-P., Mathieu J., Melancon S.B., Schalling M., Lander E.S., Morgan K., Hudson T.J., Richter A.
Nat. Genet. 24:120-125(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-3369, INVOLVEMENT IN SACS.
[2]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 102-2438 (ISOFORM 1).
Tissue: Fetal liver and Uterine endothelium.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 377-750 (ISOFORM 1).
Tissue: Astrocyte.
[5]"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3576-4579.
Tissue: Brain.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1."
Parfitt D.A., Michael G.J., Vermeulen E.G., Prodromou N.V., Webb T.R., Gallo J.M., Cheetham M.E., Nicoll W.S., Blatch G.L., Chapple J.P.
Hum. Mol. Genet. 18:1556-1565(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN UBIQUITIN-LIKE, DOMAIN J.
[8]"A novel SACS gene mutation in a Tunisian family."
Bouhlal Y., El Euch-Fayeche G., Hentati F., Amouri R.
J. Mol. Neurosci. 39:333-336(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SACS.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1779 AND SER-4264, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-943, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1779, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3435, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Solution structure of DnaJ domain of human KIAA0730 protein."
RIKEN structural genomics initiative (RSGI)
Submitted (OCT-2003) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 4306-4380.
[15]"Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia."
El Euch-Fayache G., Lalani I., Amouri R., Turki I., Ouahchi K., Hung W.Y., Belal S., Siddique T., Hentati F.
Arch. Neurol. 60:982-988(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SACS ARG-1946 AND PRO-4074.
[16]"Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey."
Richter A.M., Ozgul R.K., Poisson V.C., Topaloglu H.
Neurogenetics 5:165-170(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS ASP-4549.
[17]"Identification of a SACS gene missense mutation in ARSACS."
Ogawa T., Takiyama Y., Sakoe K., Mori K., Namekawa M., Shimazaki H., Nakano I., Nishizawa M.
Neurology 62:107-109(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS ARG-3248.
[18]"Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia."
Criscuolo C., Sacca F., De Michele G., Mancini P., Combarros O., Infante J., Garcia A., Banfi S., Filla A., Berciano J.
Mov. Disord. 20:1358-1361(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS CYS-2703.
[19]"A phenotype without spasticity in sacsin-related ataxia."
Shimazaki H., Takiyama Y., Sakoe K., Ando Y., Nakano I.
Neurology 64:2129-2131(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS SER-1054.
[20]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-1795.
[21]"New mutation in the non-gigantic exon of SACS in Japanese siblings."
Takado Y., Hara K., Shimohata T., Tokiguchi S., Onodera O., Nishizawa M.
Mov. Disord. 22:748-749(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS PHE-308.
[22]"A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay."
Breckpot J., Takiyama Y., Thienpont B., Van Vooren S., Vermeesch J.R., Ortibus E., Devriendt K.
Eur. J. Hum. Genet. 16:1050-1054(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS SER-3653.
[23]"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene."
Kamada S., Okawa S., Imota T., Sugawara M., Toyoshima I.
J. Neurol. 255:803-806(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS PRO-802.
[24]"Novel SACS mutation in a Belgian family with sacsin-related ataxia."
Ouyang Y., Segers K., Bouquiaux O., Wang F.C., Janin N., Andris C., Shimazaki H., Sakoe K., Nakano I., Takiyama Y.
J. Neurol. Sci. 264:73-76(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SACS LYS-1311.
[25]"ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia."
Vermeer S., Meijer R.P., Pijl B.J., Timmermans J., Cruysberg J.R., Bos M.M., Schelhaas H.J., van de Warrenburg B.P., Knoers N.V., Scheffer H., Kremer B.
Neurogenetics 9:207-214(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SACS TYR-168; GLN-2801 DEL; PRO-3481 AND GLN-4331.
[26]"Mutations in SACS cause atypical and late-onset forms of ARSACS."
Baets J., Deconinck T., Smets K., Goossens D., Van den Bergh P., Dahan K., Schmedding E., Santens P., Rasic V.M., Van Damme P., Robberecht W., De Meirleir L., Michielsens B., Del-Favero J., Jordanova A., De Jonghe P.
Neurology 75:1181-1188(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SACS LYS-201; PRO-556; ARG-991; PRO-1575; ARG-1587; SER-2032 DEL; GLN-2798; GLN-3636; PRO-3645; THR-3652; LYS-4343 AND THR-4508.
[27]"A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy."
Gregianin E., Vazza G., Scaramel E., Boaretto F., Vettori A., Leonardi E., Tosatto S.C., Manara R., Pegoraro E., Mostacciuolo M.L.
Eur. J. Neurol. 20:1486-1491(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-3702.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF193556 Genomic DNA. Translation: AAF31262.1.
AL157766 Genomic DNA. Translation: CAI13922.3.
AL157766 Genomic DNA. Translation: CAI13923.3.
BX640926 mRNA. Translation: CAE45964.1.
CR749427 mRNA. Translation: CAH18265.1. Different initiation.
AK090599 mRNA. Translation: BAC03486.1. Different initiation.
AB018273 mRNA. Translation: BAA34450.1.
RefSeqNP_001264984.1. NM_001278055.1.
NP_055178.3. NM_014363.5.
UniGeneHs.159492.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IURNMR-A4306-4380[»]
3O10X-ray1.90A/B/C/D4440-4579[»]
ProteinModelPortalQ9NZJ4.
SMRQ9NZJ4. Positions 107-208, 1470-1575, 2587-2641, 4306-4380, 4440-4577.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117661. 11 interactions.
IntActQ9NZJ4. 9 interactions.
MINTMINT-2856474.
STRING9606.ENSP00000371729.

PTM databases

PhosphoSiteQ9NZJ4.

Polymorphism databases

DMDM122066060.

Proteomic databases

PaxDbQ9NZJ4.
PRIDEQ9NZJ4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382292; ENSP00000371729; ENSG00000151835. [Q9NZJ4-1]
ENST00000382298; ENSP00000371735; ENSG00000151835. [Q9NZJ4-1]
ENST00000402364; ENSP00000385844; ENSG00000151835. [Q9NZJ4-2]
GeneID26278.
KEGGhsa:26278.
UCSCuc001uon.3. human. [Q9NZJ4-1]

Organism-specific databases

CTD26278.
GeneCardsGC13M023902.
H-InvDBHIX0011171.
HGNCHGNC:10519. SACS.
HPACAB017714.
MIM270550. phenotype.
604490. gene.
neXtProtNX_Q9NZJ4.
Orphanet98. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PharmGKBPA34927.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80807.
HOVERGENHBG093399.
InParanoidQ9NZJ4.
KOK17592.
OMAPAWVRQV.
OrthoDBEOG7WX07D.
PhylomeDBQ9NZJ4.
TreeFamTF331145.

Gene expression databases

ArrayExpressQ9NZJ4.
BgeeQ9NZJ4.
CleanExHS_SACS.
GenevestigatorQ9NZJ4.

Family and domain databases

Gene3D1.10.287.110. 1 hit.
3.30.565.10. 3 hits.
InterProIPR001623. DnaJ_domain.
IPR003594. HATPase_ATP-bd.
IPR007842. HEPN.
IPR000626. Ubiquitin-like.
[Graphical view]
PfamPF05168. HEPN. 1 hit.
PF00240. ubiquitin. 1 hit.
[Graphical view]
SMARTSM00271. DnaJ. 1 hit.
SM00748. HEPN. 1 hit.
[Graphical view]
SUPFAMSSF46565. SSF46565. 1 hit.
SSF55874. SSF55874. 3 hits.
PROSITEPS50076. DNAJ_2. 1 hit.
PS50910. HEPN. 1 hit.
PS50053. UBIQUITIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSACS. human.
EvolutionaryTraceQ9NZJ4.
GeneWikiSacsin.
GenomeRNAi26278.
NextBio48593.
PROQ9NZJ4.
SOURCESearch...

Entry information

Entry nameSACS_HUMAN
AccessionPrimary (citable) accession number: Q9NZJ4
Secondary accession number(s): O94835 expand/collapse secondary AC list , Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 9, 2007
Last modified: April 16, 2014
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM