Reviewed, UniProtKB/Swiss-Prot Q9NZJ4 (SACS_HUMAN)

Names and origin

Protein names

Recommended name:
    Sacsin

Gene names

Name:	SACS
Synonyms:	KIAA0730

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	4579 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May function in chaperone-mediated protein folding.
Tissue specificity	Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.
Involvement in disease	Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [MIM:270550]. ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.
Sequence similarities	Contains 1 HEPN domain. Contains 1 J domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Chaperone
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	protein folding Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro heat shock protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 4579

4579

Sacsin

PRO_0000097563

Regions

Domain

4306 – 4393

88

J

Domain

4451 – 4567

117

HEPN

Amino acid modifications

Modified residue

4263

1

Phosphothreonine By similarity

Modified residue

4333

1

Phosphotyrosine Ref.6

Natural variations

Alternative sequence

1 – 750

750

Missing in isoform 2.

VSP_022325

Natural variant

1795

1

M → I in a colorectal cancer sample; somatic mutation. Ref.9

VAR_035986

Natural variant

3369

1

V → A Ref.1

VAR_010296

Experimental info

Sequence conflict

730 – 750

21

RPCTQ…LIKEV → FLFDEDSNGKLKMVAVLITS C in BAC03486. Ref.4

Sequence conflict

812 – 832

21

QTCVE…LDDES → FLFDEDSNGKLKMVAVLITS C in CAE45964. Ref.3

Sequence conflict

1827

1

G → R in CAH18265. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

4579

Helix Strand Turn

Details...

Helix

4307 – 4316

10

Helix

4323 – 4335

13

Turn

4338 – 4340

3

Beta strand

4341 – 4343

3

Helix

4345 – 4365

21

Beta strand

4369 – 4373

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 9, 2007. Version 2. Checksum: 84D7F36903F4518D	FASTA	4,579	521,126
	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
	Isoform 2. Checksum: 7AE990311E1E3E91	FASTA	3,829	436,976
	10 20 30 40 50 60 MNTFWPGREL IVQWYPFDEN RNHPSVSWLK MVWKNLYIHF SEDLTLFDEM PLIPRTILEE 70 80 90 100 110 120 GQTCVELIRL RIPSLVILDD ESEAQLPEFL ADIVQKLGGF VLKKLDASIQ HPLIKKYIHS 130 140 150 160 170 180 PLPSAVLQIM EKMPLQKLCN QITSLLPTHK DALRKFLASL TDSSEKEKRI IQELAIFKRI 190 200 210 220 230 240 NHSSDQGISS YTKLKGCKVL HHTAKLPADL RLSISVIDSS DEATIRLANM LKIEQLKTTS 250 260 270 280 290 300 CLKLVLKDIE NAFYSHEEVT QLMLWVLENL SSLKNENPNV LEWLTPLKFI QISQEQMVSA 310 320 330 340 350 360 GELFDPDIEV LKDLFCNEEG TYFPPSVFTS PDILHSLRQI GLKNEASLKE KDVVQVAKKI 370 380 390 400 410 420 EALQVGACPD QDVLLKKAKT LLLVLNKNHT LLQSSEGKMT LKKIKWVPAC KERPPNYPGS 430 440 450 460 470 480 LVWKGDLCNL CAPPDMCDVG HAILIGSSLP LVESIHVNLE KALGIFTKPS LSAVLKHFKI 490 500 510 520 530 540 VVDWYSSKTF SDEDYYQFQH ILLEIYGFMH DHLNEGKDSF RALKFPWVWT GKKFCPLAQA 550 560 570 580 590 600 VIKPIHDLDL QPYLHNVPKT MAKFHQLFKV CGSIEELTSD HISMVIQKIY LKSDQDLSEQ 610 620 630 640 650 660 ESKQNLHLML NIIRWLYSNQ IPASPNTPVP IHHSKNPSKL IMKPIHECCY CDIKVDDLND 670 680 690 700 710 720 LLEDSVEPII LVHEDIPMKT AEWLKVPCLS TRLINPENMG FEQSGQREPL TVRIKNILEE 730 740 750 760 770 780 YPSVSDIFKE LLQNADDANA TECSFLIDMR RNMDIRENLL DPGMAACHGP ALWSFNNSQF 790 800 810 820 830 840 SDSDFVNITR LGESLKRGEV DKVGKFGLGF NSVYHITDIP IIMSREFMIM FDPNINHISK 850 860 870 880 890 900 HIKDKSNPGI KINWSKQQKR LRKFPNQFKP FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT 910 920 930 940 950 960 QQEAKVSEVS STCYNTADIY SLVDEFSLCG HRLIIFTQSV KSMYLKYLKI EETNPSLAQD 970 980 990 1000 1010 1020 TVIIKKKSCS SKALNTPVLS VLKEAAKLMK TCSSSNKKLP SDEPKSSCIL QITVEEFHHV 1030 1040 1050 1060 1070 1080 FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ SKKPSDELSQ KTVECTTWLL CTCMDTGEAL 1090 1100 1110 1120 1130 1140 KFSLSESGRR LGLVPCGAVG VQLSEIQDQK WTVKPHIGEV FCYLPLRIKT GLPVHINGCF 1150 1160 1170 1180 1190 1200 AVTSNRKEIW KTDTKGRWNT TFMRHVIVKA YLQVLSVLRD LATSGELMDY TYYAVWPDPD 1210 1220 1230 1240 1250 1260 LVHDDFSVIC QGFYEDIAHG KGKELTKVFS DGSTWVSMKN VRFLDDSILK RRDVGSAAFK 1270 1280 1290 1300 1310 1320 IFLKYLKKTG SKNLCAVELP SSVKLGFEEA GCKQILLENT FSEKQFFSEV FFPNIQEIEA 1330 1340 1350 1360 1370 1380 ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR 1390 1400 1410 1420 1430 1440 FPYGSTQDYL NPIILIKLVQ LGMAKDDILW DDMLERAVSV AEINKSDHVA ACLRSSILLS 1450 1460 1470 1480 1490 1500 LIDEKLKIRD PRAKDFAAKY QTIRFLPFLT KPAGFSLDWK GNSFKPETMF AATDLYTAEH 1510 1520 1530 1540 1550 1560 QDIVCLLQPI LNENSHSFRG CGSVSLAVKE FLGLLKKPTV DLVINQLKEV AKSVDDGITL 1570 1580 1590 1600 1610 1620 YQENITNACY KYLHEALMQN EITKMSIIDK LKPFSFILVE NAYVDSEKVS FHLNFEAAPY 1630 1640 1650 1660 1670 1680 LYQLPNKYKN NFRELFETVG VRQSCTVEDF ALVLESIDQE RGTKQITEEN FQLCRRIISE 1690 1700 1710 1720 1730 1740 GIWSLIREKK QEFCEKNYGK ILLPDTNLML LPAKSLCYND CPWIKVKDTT VKYCHADIPR 1750 1760 1770 1780 1790 1800 EVAVKLGAVP KRHKALERYA SNVCFTTLGT EFGQKEKLTS RIKSILNAYP SEKEMLKELL 1810 1820 1830 1840 1850 1860 QNADDAKATE ICFVFDPRQH PVDRIFDDKW APLQGPALCV YNNQPFTEDD VRGIQNLGKG 1870 1880 1890 1900 1910 1920 TKEGNPYKTG QYGIGFNSVY HITDCPSFIS GNDILCIFDP HARYAPGATS ISPGRMFRDL 1930 1940 1950 1960 1970 1980 DADFRTQFSD VLDLYLGTHF KLDNCTMFRF PLRNAEMAKV SEISSVPASD RMVQNLLDKL 1990 2000 2010 2020 2030 2040 RSDGAELLMF LNHMEKISIC EIDKSTGALN VLYSVKGKIT DGDRLKRKQF HASVIDSVTK 2050 2060 2070 2080 2090 2100 KRQLKDIPVQ QITYTMDTED SEGNLTTWLI CNRSGFSSME KVSKSVISAH KNQDITLFPR 2110 2120 2130 2140 2150 2160 GGVAACITHN YKKPHRAFCF LPLSLETGLP FHVNGHFALD SARRNLWRDD NGVGVRSDWN 2170 2180 2190 2200 2210 2220 NSLMTALIAP AYVELLIQLK KRYFPGSDPT LSVLQNTPIH VVKDTLKKFL SFFPVNRLDL 2230 2240 2250 2260 2270 2280 QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN IDGSDLHSAV IITWINMSTS NKTRPFFDNL 2290 2300 2310 2320 2330 2340 LQDELQHLKN ADYNITTRKT VAENVYRLKH LLLEIGFNLV YNCDETANLY HCLIDADIPV 2350 2360 2370 2380 2390 2400 SYVTPADIRS FLMTFSSPDT NCHIGKLPCR LQQTNLKLFH SLKLLVDYCF KDAEENEIEV 2410 2420 2430 2440 2450 2460 EGLPLLITLD SVLQTFDAKR PKFLTTYHEL IPSRKDLFMN TLYLKYSNIL LNCKVAKVFD 2470 2480 2490 2500 2510 2520 ISSFADLLSS VLPREYKTKS CTKWKDNFAS ESWLKNAWHF ISESVSVKED QEETKPTFDI 2530 2540 2550 2560 2570 2580 VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV LLPLSLMHIA VFPNAQSDKV FHALMKAGCI 2590 2600 2610 2620 2630 2640 QLALNKICSK DSAFVPLLSC HTANIESPTS ILKALHYMVQ TSTFRAEKLV ENDFEALLMY 2650 2660 2670 2680 2690 2700 FNCNLNHLMS QDDIKILKSL PCYKSISGRY VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS 2710 2720 2730 2740 2750 2760 AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH LLPKIENLSY DAKLEHLIYL KNRLSSAEEL 2770 2780 2790 2800 2810 2820 SEIKEQLFEK LESLLIIHDA NSRLKQAKHF YDRTVRVFEV MLPEKLFIPN DFFKKLEQLI 2830 2840 2850 2860 2870 2880 KPKNHVTFMT SWVEFLRNIG LKYILSQQQL LQFAKEISVR ANTENWSKET LQNTVDILLH 2890 2900 2910 2920 2930 2940 HIFQERMDLL SGNFLKELSL IPFLCPERAP AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK 2950 2960 2970 2980 2990 3000 FKQCDVLQLL WTSCPILPEK ATPLSIKEQE GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN 3010 3020 3030 3040 3050 3060 NCRNICNITT LDEEMVKTRA KVLRSIYEFL SAEKREFRFQ LRGVAFVMVE DGWKLLKPEE 3070 3080 3090 3100 3110 3120 VVINLEYESD FKPYLYKLPL ELGTFHQLFK HLGTEDIIST KQYVEVLSRI FKNSEGKQLD 3130 3140 3150 3160 3170 3180 PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE NVRDLALYLP SQDGRLVKSS ILVFDDAPHY 3190 3200 3210 3220 3230 3240 KSRIQGNIGV QMLVDLSQCY LGKDHGFHTK LIMLFPQKLR PRLLSSILEE QLDEETPKVC 3250 3260 3270 3280 3290 3300 QFGALCSLQG RLQLLLSSEQ FITGLIRIMK HENDNAFLAN EEKAIRLCKA LREGLKVSCF 3310 3320 3330 3340 3350 3360 EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG NAVILLYIQH SDSKDINFLL ALAMTLKSAT 3370 3380 3390 3400 3410 3420 DNLISDTSYL IAMLGCNDIY RIGEKLDSLG VKYDSSEPSK LELPMPGTPI PAEIHYTLLM 3430 3440 3450 3460 3470 3480 DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT YTYAIIVQEV EREDADNSSF LGKIYQIDIG 3490 3500 3510 3520 3530 3540 YSEYKIVSSL DLYKFSRPEE SSQSRDSAPS TPTSPTEFLT PGLRSIPPLF SGRESHKTSS 3550 3560 3570 3580 3590 3600 KHQSPKKLKV NSLPEILKEV TSVVEQAWKL PESERKKIIR RLYLKWHPDK NPENHDIANE 3610 3620 3630 3640 3650 3660 VFKHLQNEIN RLEKQAFLDQ NADRASRRTF STSASRFQSD KYSFQRFYTS WNQEATSHKS 3670 3680 3690 3700 3710 3720 ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS VGNPVEARRW LRQARANFSA ARNDLHKNAN 3730 3740 3750 3760 3770 3780 EWVCFKCYLS TKLALIAADY AVRGKSDKDV KPTALAQKIE EYSQQLEGLT NDVHTLEAYG 3790 3800 3810 3820 VDSLKTRYPD LLPFPQIPND RFTSEVAMRV MECTACIIIK LENFMQQKV

References

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[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: 10655055] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-3369.
[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. , 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: 15057823] [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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [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. , 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: 14702039] [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: 9872452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3576-4579. Tissue: Brain.
[6]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-4333, MASS SPECTROMETRY.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"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.
[9]	"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. , 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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-1795.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

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.

IPI

IPI00784002.
IPI00795015.

RefSeq

NP_055178.3.

UniGene

Hs.159492

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1IUR	NMR	-	A	4306-4380	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NZJ4. 5 interactions.

PTM databases

PhosphoSite

Q9NZJ4.

Proteomic databases

PRIDE

Q9NZJ4.

Genome annotation databases

Ensembl

ENSG00000151835. Homo sapiens. [Contig view]

GeneID

26278.

KEGG

hsa:26278.

Organism-specific databases

GeneCards

GC13M022800.

H-InvDB

HIX0011171.

HGNC

HGNC:10519. SACS.

HPA

CAB017714.

MIM

270550. phenotype.
604490. gene.

Orphanet

98. Ataxia, spastic, Charlevoix-Saguenay type.

PharmGKB

PA34927.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q9NZJ4.

OMA

Q9NZJ4. DITLFPR.

Gene expression databases

ArrayExpress

Q9NZJ4.

Bgee

Q9NZJ4.

CleanEx

HS_SACS.

GermOnline

ENSG00000151835. Homo sapiens.

Family and domain databases

InterPro

IPR001623. DnaJ_N.
IPR018253. Heat_shock_DnaJ_CS.
IPR007842. HEPN.
IPR000626. Ubiquitin.
IPR019955. Ubiquitin_supergroup.
[Graphical view]

Pfam

PF05168. HEPN. 1 hit.
PF00240. ubiquitin. 1 hit.
[Graphical view]

SMART

SM00271. DnaJ. 1 hit.
SM00748. HEPN. 1 hit.
[Graphical view]

PROSITE

PS00636. DNAJ_1. False negative.
PS50076. DNAJ_2. 1 hit.
PS50910. HEPN. 1 hit.
PS50053. UBIQUITIN_2. 1 hit. Uncertain.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

48593.

SOURCE

Search...

Entry information

Entry name

SACS_HUMAN

Accession

Primary (citable) accession number: Q9NZJ4
Secondary accession number(s): O94835 , Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	January 9, 2007
Last modified:	June 16, 2009
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)