Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

Q9NZJ4

- SACS_HUMAN

UniProt

Q9NZJ4 - SACS_HUMAN

Protein

Sacsin

Gene

SACS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (09 Jan 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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. ATP binding Source: InterPro
    2. chaperone binding Source: UniProtKB
    3. Hsp70 protein binding Source: BHF-UCL
    4. 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

    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

    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

    ArrayExpressiQ9NZJ4.
    BgeeiQ9NZJ4.
    CleanExiHS_SACS.
    GenevestigatoriQ9NZJ4.

    Organism-specific databases

    HPAiCAB017714.

    Interactioni

    Protein-protein interaction databases

    BioGridi117661. 11 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.
    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_ATP-bd.
    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: Q9NZJ4-1) [UniParc]FASTAAdd to Basket

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

    « Hide

    METKENRWVP VTVLPGCVGC RTVAALASWT VRDVKERIFA ETGFPVSEQR     50
    LWRGGRELSD WIKIGDLTSK NCHLFVNLQS KGLKGGGRFG QTTPPLVDFL 100
    KDILRRYPEG GQILKELIQN AEDAGATEVK FLYDETQYGT ETLWSKDMAP 150
    YQGPALYVYN NAVFTPEDWH GIQEIARSRK KDDPLKVGRF GIGFNSVYHI 200
    TDVPCIFSGD QIGMLDPHQT LFGPHESGQC WNLKDDSKEI SELSDQFAPF 250
    VGIFGSTKET FINGNFPGTF FRFPLRLQPS QLSSNLYNKQ KVLELFESFR 300
    ADADTVLLFL KSVQDVSLYV READGTEKLV FRVTSSESKA LKHERPNSIK 350
    ILGTAISNYC KKTPSNNITC VTYHVNIVLE EESTKDAQKT SWLVCNSVGG 400
    RGISSKLDSL ADELKFVPII GIAMPLSSRD DEAKGATSDF SGKAFCFLPL 450
    PPGEESSTGL PVHISGFFGL TDNRRSIKWR ELDQWRDPAA LWNEFLVMNV 500
    VPKAYATLIL DSIKRLEMEK SSDFPLSVDV IYKLWPEASK VKVHWQPVLE 550
    PLFSELLQNA VIYSISCDWV RLEQVYFSEL DENLEYTKTV LNYLQSSGKQ 600
    IAKVPGNVDA AVQLTAASGT TPVRKVTPAW VRQVLRKCAH LGCAEEKLHL 650
    LEFVLSDQAY SELLGLELLP LQNGNFVPFS SSVSDQDVIY ITSAEYPRSL 700
    FPSLEGRFIL DNLKPHLVAA LKEAAQTRGR PCTQLQLLNP ERFARLIKEV 750
    MNTFWPGREL IVQWYPFDEN RNHPSVSWLK MVWKNLYIHF SEDLTLFDEM 800
    PLIPRTILEE GQTCVELIRL RIPSLVILDD ESEAQLPEFL ADIVQKLGGF 850
    VLKKLDASIQ HPLIKKYIHS PLPSAVLQIM EKMPLQKLCN QITSLLPTHK 900
    DALRKFLASL TDSSEKEKRI IQELAIFKRI NHSSDQGISS YTKLKGCKVL 950
    HHTAKLPADL RLSISVIDSS DEATIRLANM LKIEQLKTTS CLKLVLKDIE 1000
    NAFYSHEEVT QLMLWVLENL SSLKNENPNV LEWLTPLKFI QISQEQMVSA 1050
    GELFDPDIEV LKDLFCNEEG TYFPPSVFTS PDILHSLRQI GLKNEASLKE 1100
    KDVVQVAKKI EALQVGACPD QDVLLKKAKT LLLVLNKNHT LLQSSEGKMT 1150
    LKKIKWVPAC KERPPNYPGS LVWKGDLCNL CAPPDMCDVG HAILIGSSLP 1200
    LVESIHVNLE KALGIFTKPS LSAVLKHFKI VVDWYSSKTF SDEDYYQFQH 1250
    ILLEIYGFMH DHLNEGKDSF RALKFPWVWT GKKFCPLAQA VIKPIHDLDL 1300
    QPYLHNVPKT MAKFHQLFKV CGSIEELTSD HISMVIQKIY LKSDQDLSEQ 1350
    ESKQNLHLML NIIRWLYSNQ IPASPNTPVP IHHSKNPSKL IMKPIHECCY 1400
    CDIKVDDLND LLEDSVEPII LVHEDIPMKT AEWLKVPCLS TRLINPENMG 1450
    FEQSGQREPL TVRIKNILEE YPSVSDIFKE LLQNADDANA TECSFLIDMR 1500
    RNMDIRENLL DPGMAACHGP ALWSFNNSQF SDSDFVNITR LGESLKRGEV 1550
    DKVGKFGLGF NSVYHITDIP IIMSREFMIM FDPNINHISK HIKDKSNPGI 1600
    KINWSKQQKR LRKFPNQFKP FIDVFGCQLP LTVEAPYSYN GTLFRLSFRT 1650
    QQEAKVSEVS STCYNTADIY SLVDEFSLCG HRLIIFTQSV KSMYLKYLKI 1700
    EETNPSLAQD TVIIKKKSCS SKALNTPVLS VLKEAAKLMK TCSSSNKKLP 1750
    SDEPKSSCIL QITVEEFHHV FRRIADLQSP LFRGPDDDPA ALFEMAKSGQ 1800
    SKKPSDELSQ KTVECTTWLL CTCMDTGEAL KFSLSESGRR LGLVPCGAVG 1850
    VQLSEIQDQK WTVKPHIGEV FCYLPLRIKT GLPVHINGCF AVTSNRKEIW 1900
    KTDTKGRWNT TFMRHVIVKA YLQVLSVLRD LATSGELMDY TYYAVWPDPD 1950
    LVHDDFSVIC QGFYEDIAHG KGKELTKVFS DGSTWVSMKN VRFLDDSILK 2000
    RRDVGSAAFK IFLKYLKKTG SKNLCAVELP SSVKLGFEEA GCKQILLENT 2050
    FSEKQFFSEV FFPNIQEIEA ELRDPLMIFV LNEKVDEFSG VLRVTPCIPC 2100
    SLEGHPLVLP SRLIHPEGRV AKLFDIKDGR FPYGSTQDYL NPIILIKLVQ 2150
    LGMAKDDILW DDMLERAVSV AEINKSDHVA ACLRSSILLS LIDEKLKIRD 2200
    PRAKDFAAKY QTIRFLPFLT KPAGFSLDWK GNSFKPETMF AATDLYTAEH 2250
    QDIVCLLQPI LNENSHSFRG CGSVSLAVKE FLGLLKKPTV DLVINQLKEV 2300
    AKSVDDGITL YQENITNACY KYLHEALMQN EITKMSIIDK LKPFSFILVE 2350
    NAYVDSEKVS FHLNFEAAPY LYQLPNKYKN NFRELFETVG VRQSCTVEDF 2400
    ALVLESIDQE RGTKQITEEN FQLCRRIISE GIWSLIREKK QEFCEKNYGK 2450
    ILLPDTNLML LPAKSLCYND CPWIKVKDTT VKYCHADIPR EVAVKLGAVP 2500
    KRHKALERYA SNVCFTTLGT EFGQKEKLTS RIKSILNAYP SEKEMLKELL 2550
    QNADDAKATE ICFVFDPRQH PVDRIFDDKW APLQGPALCV YNNQPFTEDD 2600
    VRGIQNLGKG TKEGNPYKTG QYGIGFNSVY HITDCPSFIS GNDILCIFDP 2650
    HARYAPGATS ISPGRMFRDL DADFRTQFSD VLDLYLGTHF KLDNCTMFRF 2700
    PLRNAEMAKV SEISSVPASD RMVQNLLDKL RSDGAELLMF LNHMEKISIC 2750
    EIDKSTGALN VLYSVKGKIT DGDRLKRKQF HASVIDSVTK KRQLKDIPVQ 2800
    QITYTMDTED SEGNLTTWLI CNRSGFSSME KVSKSVISAH KNQDITLFPR 2850
    GGVAACITHN YKKPHRAFCF LPLSLETGLP FHVNGHFALD SARRNLWRDD 2900
    NGVGVRSDWN NSLMTALIAP AYVELLIQLK KRYFPGSDPT LSVLQNTPIH 2950
    VVKDTLKKFL SFFPVNRLDL QPDLYCLVKA LYNCIHEDMK RLLPVVRAPN 3000
    IDGSDLHSAV IITWINMSTS NKTRPFFDNL LQDELQHLKN ADYNITTRKT 3050
    VAENVYRLKH LLLEIGFNLV YNCDETANLY HCLIDADIPV SYVTPADIRS 3100
    FLMTFSSPDT NCHIGKLPCR LQQTNLKLFH SLKLLVDYCF KDAEENEIEV 3150
    EGLPLLITLD SVLQTFDAKR PKFLTTYHEL IPSRKDLFMN TLYLKYSNIL 3200
    LNCKVAKVFD ISSFADLLSS VLPREYKTKS CTKWKDNFAS ESWLKNAWHF 3250
    ISESVSVKED QEETKPTFDI VVDTLKDWAL LPGTKFTVSA NQLVVPEGDV 3300
    LLPLSLMHIA VFPNAQSDKV FHALMKAGCI QLALNKICSK DSAFVPLLSC 3350
    HTANIESPTS ILKALHYMVQ TSTFRAEKLV ENDFEALLMY FNCNLNHLMS 3400
    QDDIKILKSL PCYKSISGRY VSIGKFGTCY VLTKSIPSAE VEKWTQSSSS 3450
    AFLEEKIHLK ELYEVIGCVP VDDLEVYLKH LLPKIENLSY DAKLEHLIYL 3500
    KNRLSSAEEL SEIKEQLFEK LESLLIIHDA NSRLKQAKHF YDRTVRVFEV 3550
    MLPEKLFIPN DFFKKLEQLI KPKNHVTFMT SWVEFLRNIG LKYILSQQQL 3600
    LQFAKEISVR ANTENWSKET LQNTVDILLH HIFQERMDLL SGNFLKELSL 3650
    IPFLCPERAP AEFIRFHPQY QEVNGTLPLI KFNGAQVNPK FKQCDVLQLL 3700
    WTSCPILPEK ATPLSIKEQE GSDLGPQEQL EQVLNMLNVN LDPPLDKVIN 3750
    NCRNICNITT LDEEMVKTRA KVLRSIYEFL SAEKREFRFQ LRGVAFVMVE 3800
    DGWKLLKPEE VVINLEYESD FKPYLYKLPL ELGTFHQLFK HLGTEDIIST 3850
    KQYVEVLSRI FKNSEGKQLD PNEMRTVKRV VSGLFRSLQN DSVKVRSDLE 3900
    NVRDLALYLP SQDGRLVKSS ILVFDDAPHY KSRIQGNIGV QMLVDLSQCY 3950
    LGKDHGFHTK LIMLFPQKLR PRLLSSILEE QLDEETPKVC QFGALCSLQG 4000
    RLQLLLSSEQ FITGLIRIMK HENDNAFLAN EEKAIRLCKA LREGLKVSCF 4050
    EKLQTTLRVK GFNPIPHSRS ETFAFLKRFG NAVILLYIQH SDSKDINFLL 4100
    ALAMTLKSAT DNLISDTSYL IAMLGCNDIY RIGEKLDSLG VKYDSSEPSK 4150
    LELPMPGTPI PAEIHYTLLM DPMNVFYPGE YVGYLVDAEG GDIYGSYQPT 4200
    YTYAIIVQEV EREDADNSSF LGKIYQIDIG YSEYKIVSSL DLYKFSRPEE 4250
    SSQSRDSAPS TPTSPTEFLT PGLRSIPPLF SGRESHKTSS KHQSPKKLKV 4300
    NSLPEILKEV TSVVEQAWKL PESERKKIIR RLYLKWHPDK NPENHDIANE 4350
    VFKHLQNEIN RLEKQAFLDQ NADRASRRTF STSASRFQSD KYSFQRFYTS 4400
    WNQEATSHKS ERQQQNKEKC PPSAGQTYSQ RFFVPPTFKS VGNPVEARRW 4450
    LRQARANFSA ARNDLHKNAN EWVCFKCYLS TKLALIAADY AVRGKSDKDV 4500
    KPTALAQKIE EYSQQLEGLT NDVHTLEAYG VDSLKTRYPD LLPFPQIPND 4550
    RFTSEVAMRV MECTACIIIK LENFMQQKV 4579
    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. 11 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.
    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

    ArrayExpressi Q9NZJ4.
    Bgeei Q9NZJ4.
    CleanExi HS_SACS.
    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_ATP-bd.
    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

    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 1, 2014
    This is version 131 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