Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9NZJ4

- SACS_HUMAN

UniProt

Q9NZJ4 - SACS_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Sacsin

Gene

SACS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. chaperone binding Source: UniProtKB
  2. Hsp70 protein binding Source: BHF-UCL
  3. proteasome binding Source: BHF-UCL

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. negative regulation of inclusion body assembly Source: BHF-UCL
  3. protein folding Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:10519. SACS.

Subcellular locationi

Cytoplasm 1 Publication
Note: Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.

GO - Cellular componenti

  1. axon Source: BHF-UCL
  2. cell body fiber Source: BHF-UCL
  3. cytoplasm Source: BHF-UCL
  4. dendrite Source: BHF-UCL
  5. mitochondrion Source: BHF-UCL
  6. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681D → Y in SACS. 1 Publication
VAR_064801
Natural varianti201 – 2011T → K in SACS. 1 Publication
VAR_064802
Natural varianti308 – 3081L → F in SACS. 1 Publication
VAR_064803
Natural varianti556 – 5561L → P in SACS; associated with Q-2798. 1 Publication
VAR_064804
Natural varianti802 – 8021L → P in SACS. 1 Publication
VAR_064805
Natural varianti991 – 9911C → R in SACS. 1 Publication
VAR_064806
Natural varianti1054 – 10541F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 Publication
VAR_064807
Natural varianti1311 – 13111M → K in SACS. 1 Publication
VAR_064808
Natural varianti1575 – 15751R → P in SACS. 1 Publication
VAR_064809
Natural varianti1587 – 15871H → R in SACS. 1 Publication
VAR_064810
Natural varianti1946 – 19461W → R in SACS. 1 Publication
VAR_064811
Natural varianti2032 – 20321Missing in SACS. 1 Publication
VAR_064812
Natural varianti2703 – 27031R → C in SACS. 1 Publication
VAR_064813
Natural varianti2798 – 27981P → Q in SACS; associated with P-556. 1 Publication
Corresponds to variant rs140551762 [ dbSNP | Ensembl ].
VAR_064814
Natural varianti2801 – 28011Missing in SACS. 1 Publication
VAR_064815
Natural varianti3248 – 32481W → R in SACS. 1 Publication
VAR_064816
Natural varianti3481 – 34811L → P in SACS. 1 Publication
VAR_064817
Natural varianti3636 – 36361R → Q in SACS; associated with T-3652. 1 Publication
VAR_064818
Natural varianti3645 – 36451L → P in SACS. 1 Publication
VAR_064819
Natural varianti3652 – 36521P → T in SACS; associated with Q-3636. 1 Publication
Corresponds to variant rs201505036 [ dbSNP | Ensembl ].
VAR_064820
Natural varianti3653 – 36531F → S in SACS. 1 Publication
VAR_064821
Natural varianti4074 – 40741A → P in SACS. 1 Publication
VAR_064822
Natural varianti4331 – 43311R → Q in SACS. 1 Publication
VAR_064823
Natural varianti4343 – 43431E → K in SACS. 1 Publication
VAR_064824
Natural varianti4508 – 45081K → T in SACS. 1 Publication
VAR_064825
Natural varianti4549 – 45491N → D in SACS. 1 Publication
VAR_064826

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi270550. phenotype.
Orphaneti98. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PharmGKBiPA34927.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 45794579SacsinPRO_0000097563Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei943 – 9431N6-acetyllysine1 Publication
Modified residuei1779 – 17791Phosphoserine2 Publications
Modified residuei3435 – 34351Phosphoserine1 Publication
Modified residuei4264 – 42641Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9NZJ4.
PaxDbiQ9NZJ4.
PRIDEiQ9NZJ4.

PTM databases

PhosphoSiteiQ9NZJ4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NZJ4.
CleanExiHS_SACS.
ExpressionAtlasiQ9NZJ4. baseline and differential.
GenevestigatoriQ9NZJ4.

Organism-specific databases

HPAiCAB017714.

Interactioni

Protein-protein interaction databases

BioGridi117661. 12 interactions.
IntActiQ9NZJ4. 9 interactions.
MINTiMINT-2856474.
STRINGi9606.ENSP00000371729.

Structurei

Secondary structure

1
4579
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4307 – 431610
Helixi4323 – 433513
Turni4338 – 43403
Beta strandi4341 – 43433
Helixi4345 – 436521
Beta strandi4369 – 43735
Helixi4444 – 446118
Helixi4462 – 44643
Turni4465 – 44684
Helixi4470 – 449324
Helixi4502 – 45109
Helixi4514 – 45163
Helixi4519 – 452810
Turni4533 – 45375
Helixi4539 – 45413
Helixi4548 – 45514
Helixi4554 – 457623

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IURNMR-A4306-4380[»]
3O10X-ray1.90A/B/C/D4440-4579[»]
ProteinModelPortaliQ9NZJ4.
SMRiQ9NZJ4. Positions 4306-4380, 4440-4577.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NZJ4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 8476Ubiquitin-likePROSITE-ProRule annotationAdd
BLAST
Domaini4306 – 439388JPROSITE-ProRule annotationAdd
BLAST
Domaini4451 – 4567117HEPNPROSITE-ProRule annotationAdd
BLAST

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

Sequence similaritiesi

Contains 1 HEPN domain.PROSITE-ProRule annotation
Contains 1 J domain.PROSITE-ProRule annotation
Contains 1 ubiquitin-like domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG80807.
GeneTreeiENSGT00390000016695.
HOVERGENiHBG093399.
InParanoidiQ9NZJ4.
KOiK17592.
OMAiPAWVRQV.
OrthoDBiEOG7WX07D.
PhylomeDBiQ9NZJ4.
TreeFamiTF331145.

Family and domain databases

Gene3Di1.10.287.110. 1 hit.
3.30.565.10. 3 hits.
InterProiIPR001623. DnaJ_domain.
IPR003594. HATPase_C.
IPR007842. HEPN.
IPR000626. Ubiquitin-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF05168. HEPN. 1 hit.
PF00240. ubiquitin. 1 hit.
[Graphical view]
SMARTiSM00271. DnaJ. 1 hit.
SM00748. HEPN. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
SSF54236. SSF54236. 1 hit.
SSF55874. SSF55874. 3 hits.
PROSITEiPS50076. DNAJ_2. 1 hit.
PS50910. HEPN. 1 hit.
PS50053. UBIQUITIN_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NZJ4) [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 BAC03486.1 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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti730 – 75021RPCTQ…LIKEV → FLFDEDSNGKLKMVAVLITS C in BAC03486. (PubMed:14702039)CuratedAdd
BLAST
Sequence conflicti812 – 83221QTCVE…LDDES → FLFDEDSNGKLKMVAVLITS C in CAE45964. (PubMed:17974005)CuratedAdd
BLAST
Sequence conflicti1827 – 18271G → R in CAH18265. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681D → Y in SACS. 1 Publication
VAR_064801
Natural varianti201 – 2011T → K in SACS. 1 Publication
VAR_064802
Natural varianti232 – 2321N → K.
Corresponds to variant rs2031640 [ dbSNP | Ensembl ].
VAR_059716
Natural varianti308 – 3081L → F in SACS. 1 Publication
VAR_064803
Natural varianti556 – 5561L → P in SACS; associated with Q-2798. 1 Publication
VAR_064804
Natural varianti694 – 6941A → T.
Corresponds to variant rs17325713 [ dbSNP | Ensembl ].
VAR_059717
Natural varianti802 – 8021L → P in SACS. 1 Publication
VAR_064805
Natural varianti991 – 9911C → R in SACS. 1 Publication
VAR_064806
Natural varianti1054 – 10541F → S in SACS; atypical phenotype without spasticity or hyperreflexia. 1 Publication
VAR_064807
Natural varianti1311 – 13111M → K in SACS. 1 Publication
VAR_064808
Natural varianti1575 – 15751R → P in SACS. 1 Publication
VAR_064809
Natural varianti1587 – 15871H → R in SACS. 1 Publication
VAR_064810
Natural varianti1795 – 17951M → I in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035986
Natural varianti1946 – 19461W → R in SACS. 1 Publication
VAR_064811
Natural varianti2017 – 20171K → N.
Corresponds to variant rs35865691 [ dbSNP | Ensembl ].
VAR_059718
Natural varianti2032 – 20321Missing in SACS. 1 Publication
VAR_064812
Natural varianti2703 – 27031R → C in SACS. 1 Publication
VAR_064813
Natural varianti2798 – 27981P → Q in SACS; associated with P-556. 1 Publication
Corresponds to variant rs140551762 [ dbSNP | Ensembl ].
VAR_064814
Natural varianti2801 – 28011Missing in SACS. 1 Publication
VAR_064815
Natural varianti2958 – 29581K → R.
Corresponds to variant rs11839380 [ dbSNP | Ensembl ].
VAR_059719
Natural varianti3248 – 32481W → R in SACS. 1 Publication
VAR_064816
Natural varianti3369 – 33691V → A.1 Publication
Corresponds to variant rs17078605 [ dbSNP | Ensembl ].
VAR_010296
Natural varianti3481 – 34811L → P in SACS. 1 Publication
VAR_064817
Natural varianti3636 – 36361R → Q in SACS; associated with T-3652. 1 Publication
VAR_064818
Natural varianti3645 – 36451L → P in SACS. 1 Publication
VAR_064819
Natural varianti3652 – 36521P → T in SACS; associated with Q-3636. 1 Publication
Corresponds to variant rs201505036 [ dbSNP | Ensembl ].
VAR_064820
Natural varianti3653 – 36531F → S in SACS. 1 Publication
VAR_064821
Natural varianti3678 – 36781P → A.
Corresponds to variant rs17078601 [ dbSNP | Ensembl ].
VAR_059720
Natural varianti3702 – 37021T → A Probable disease-associated mutation found in non-ataxic spastic paraplegia with peripheral neuropathy. 1 Publication
VAR_069775
Natural varianti4074 – 40741A → P in SACS. 1 Publication
VAR_064822
Natural varianti4217 – 42171N → D.
Corresponds to variant rs35799469 [ dbSNP | Ensembl ].
VAR_059721
Natural varianti4331 – 43311R → Q in SACS. 1 Publication
VAR_064823
Natural varianti4343 – 43431E → K in SACS. 1 Publication
VAR_064824
Natural varianti4508 – 45081K → T in SACS. 1 Publication
VAR_064825
Natural varianti4549 – 45491N → D in SACS. 1 Publication
VAR_064826

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 750750Missing in isoform 2. CuratedVSP_022325Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9300.2. [Q9NZJ4-1]
RefSeqiNP_055178.3. NM_014363.5. [Q9NZJ4-1]
UniGeneiHs.159492.

Genome annotation databases

EnsembliENST00000382292; ENSP00000371729; ENSG00000151835. [Q9NZJ4-1]
ENST00000382298; ENSP00000371735; ENSG00000151835. [Q9NZJ4-1]
ENST00000402364; ENSP00000385844; ENSG00000151835. [Q9NZJ4-2]
GeneIDi26278.
KEGGihsa:26278.
UCSCiuc001uon.3. human. [Q9NZJ4-1]

Polymorphism databases

DMDMi122066060.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9300.2. [Q9NZJ4-1 ]
RefSeqi NP_055178.3. NM_014363.5. [Q9NZJ4-1 ]
UniGenei Hs.159492.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1IUR NMR - A 4306-4380 [» ]
3O10 X-ray 1.90 A/B/C/D 4440-4579 [» ]
ProteinModelPortali Q9NZJ4.
SMRi Q9NZJ4. Positions 4306-4380, 4440-4577.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117661. 12 interactions.
IntActi Q9NZJ4. 9 interactions.
MINTi MINT-2856474.
STRINGi 9606.ENSP00000371729.

PTM databases

PhosphoSitei Q9NZJ4.

Polymorphism databases

DMDMi 122066060.

Proteomic databases

MaxQBi Q9NZJ4.
PaxDbi Q9NZJ4.
PRIDEi Q9NZJ4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382292 ; ENSP00000371729 ; ENSG00000151835 . [Q9NZJ4-1 ]
ENST00000382298 ; ENSP00000371735 ; ENSG00000151835 . [Q9NZJ4-1 ]
ENST00000402364 ; ENSP00000385844 ; ENSG00000151835 . [Q9NZJ4-2 ]
GeneIDi 26278.
KEGGi hsa:26278.
UCSCi uc001uon.3. human. [Q9NZJ4-1 ]

Organism-specific databases

CTDi 26278.
GeneCardsi GC13M023902.
GeneReviewsi SACS.
H-InvDB HIX0011171.
HGNCi HGNC:10519. SACS.
HPAi CAB017714.
MIMi 270550. phenotype.
604490. gene.
neXtProti NX_Q9NZJ4.
Orphaneti 98. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PharmGKBi PA34927.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG80807.
GeneTreei ENSGT00390000016695.
HOVERGENi HBG093399.
InParanoidi Q9NZJ4.
KOi K17592.
OMAi PAWVRQV.
OrthoDBi EOG7WX07D.
PhylomeDBi Q9NZJ4.
TreeFami TF331145.

Miscellaneous databases

ChiTaRSi SACS. human.
EvolutionaryTracei Q9NZJ4.
GeneWikii Sacsin.
GenomeRNAii 26278.
NextBioi 48593.
PROi Q9NZJ4.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZJ4.
CleanExi HS_SACS.
ExpressionAtlasi Q9NZJ4. baseline and differential.
Genevestigatori Q9NZJ4.

Family and domain databases

Gene3Di 1.10.287.110. 1 hit.
3.30.565.10. 3 hits.
InterProi IPR001623. DnaJ_domain.
IPR003594. HATPase_C.
IPR007842. HEPN.
IPR000626. Ubiquitin-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view ]
Pfami PF05168. HEPN. 1 hit.
PF00240. ubiquitin. 1 hit.
[Graphical view ]
SMARTi SM00271. DnaJ. 1 hit.
SM00748. HEPN. 1 hit.
[Graphical view ]
SUPFAMi SSF46565. SSF46565. 1 hit.
SSF54236. SSF54236. 1 hit.
SSF55874. SSF55874. 3 hits.
PROSITEi PS50076. DNAJ_2. 1 hit.
PS50910. HEPN. 1 hit.
PS50053. UBIQUITIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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] [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. 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. 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. 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. 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. 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. Cited for: VARIANT SACS LYS-1311.
  25. Cited for: VARIANTS SACS TYR-168; GLN-2801 DEL; PRO-3481 AND GLN-4331.
  26. 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.

Entry informationi

Entry nameiSACS_HUMAN
AccessioniPrimary (citable) accession number: Q9NZJ4
Secondary accession number(s): O94835
, Q5T9J5, Q5T9J7, Q5T9J8, Q68DF5, Q6MZR4, Q8NBF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 9, 2007
Last modified: October 29, 2014
This is version 132 of the entry and version 2 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3