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Q96JI7

- SPTCS_HUMAN

UniProt

Q96JI7 - SPTCS_HUMAN

Protein

Spatacsin

Gene

SPG11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Spatacsin
    Alternative name(s):
    Colorectal carcinoma-associated protein
    Spastic paraplegia 11 protein
    Gene namesi
    Name:SPG11
    Synonyms:KIAA1840
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:11226. SPG11.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Cytoplasmcytosol 1 Publication. Nucleus 1 Publication
    Note: Mainly cytoplasmic.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytoplasmic vesicle Source: MGI
    3. cytosol Source: UniProtKB-SubCell
    4. extracellular vesicular exosome Source: UniProt
    5. integral component of membrane Source: UniProtKB-KW
    6. lysosomal membrane Source: UniProtKB
    7. nucleolus Source: HPA
    8. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1349 – 13491F → I in SPG11. 1 Publication
    VAR_058417

    Keywords - Diseasei

    Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi604360. phenotype.
    Orphaneti2822. Autosomal recessive spastic paraplegia type 11.
    300605. Juvenile amyotrophic lateral sclerosis.
    PharmGKBiPA36058.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 24432443SpatacsinPRO_0000287467Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi612 – 6121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1046 – 10461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96JI7.
    PaxDbiQ96JI7.
    PRIDEiQ96JI7.

    PTM databases

    PhosphoSiteiQ96JI7.

    Expressioni

    Tissue specificityi

    Expressed in all structures of brain, with a high expression in cerebellum.1 Publication

    Gene expression databases

    ArrayExpressiQ96JI7.
    BgeeiQ96JI7.
    GenevestigatoriQ96JI7.

    Organism-specific databases

    HPAiHPA040412.
    HPA040947.

    Interactioni

    Subunit structurei

    Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.1 Publication

    Protein-protein interaction databases

    BioGridi123177. 2 interactions.
    IntActiQ96JI7. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JI7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 12371237ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1259 – 1471213CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1493 – 2443951ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1238 – 125821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1472 – 149221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG245863.
    HOVERGENiHBG080456.
    InParanoidiQ96JI7.
    OMAiHEASRVC.
    OrthoDBiEOG7B05C5.
    PhylomeDBiQ96JI7.
    TreeFamiTF325171.

    Family and domain databases

    InterProiIPR028103. Spatacsin.
    IPR028107. Spatacsin_C_dom.
    [Graphical view]
    PANTHERiPTHR13650. PTHR13650. 1 hit.
    PfamiPF14649. Spatacsin_C. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96JI7-1) [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

    MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ     50
    PEALGSLTAA GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE 100
    KPKLLALGEN YELLIYEFNL KDGRCDATIL YSCSREALQK LIDDQDISIS 150
    LLSLRILSFH NNTSLLFINK CVILHIIFPE RDAAIRVLNC FTLPLPAQAV 200
    DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL HKEDMCNEQQ 250
    QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER 300
    ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK 350
    NSKLEVSCCA PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ 400
    KDHAKTSDPG RSWKIMHISE QEEPIELKCV SVTGFTALFT WEVERMGYTI 450
    TLWDLETQGM QCFSLGTKCI PVDSSGDQQL CFVLTENGLS LILFGLTQEE 500
    FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR QLDTVNFFLK 550
    SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE 600
    PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL 650
    RTFMIKFPWK LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK 700
    IPEAQTFFRI DSHSAQKLEE LIGIGLNLVF DNLKKNNIKE ASELLKNMGF 750
    DVKGQLLKIC FYTTNKNIRD FLVEILKEKN YFSEKEKRTI DFVHQVEKLY 800
    LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD EFNKQDHRIV 850
    LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI 900
    GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL 950
    ASELEDFECF LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS 1000
    LQHLLYVYLD CYKLSPENCP FLEKKELHEA HPWFEFLVQC RQVASNLTDP 1050
    KLIFQASLAN AQILIPTNQA SVSSMLLEGH TLLALATTMY SPGGVSQVVQ 1100
    NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL PSDITIYHLI 1150
    QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA 1200
    YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI 1250
    GAACVCFLEL LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK 1300
    LSKLADGEKT TTEELLVLLE EGTWNSIQQQ EIKRLSSESS SQWALVVQFC 1350
    RLHNMKLSIS YLRECAKAND WLQFIIHSQL HNYHPAEVKS LIQYFSPVIQ 1400
    DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD LFEILLQCSE 1450
    EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT 1500
    EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL 1550
    LVMEMYELCM FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED 1600
    QVCFLLKLML QQCKTQYELG KLLQLFVERE HLFSDGPDVK KLCILCQILK 1650
    DTSIAINHTI ITSYSIENLQ HECRSILERL QTDGQFALAR RVAELAELPV 1700
    DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK NSISSKAASS 1750
    FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ 1800
    IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN 1850
    TSKYLELNSL PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY 1900
    FHFYNPDVAL VLHCRALASG EASMEDLHPE IHALLQSAEL LEEEAPDIPL 1950
    RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL TSKCLHGKNY CRQVLCLYDL 2000
    AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS TQGLKPDTVA 2050
    ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL 2100
    LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL 2150
    APSEEYGLVV RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK 2200
    TALLDYIKRC RPGDSEKHNM IALCFSMCRE IGENHEAAAR IQLKLIESQP 2250
    WEDSLKDGHQ LKQLLLKALT LMLDAAESYA KDSCVRQAQH CQRLTKLITL 2300
    QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA YDFVPDWAEI 2350
    LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK 2400
    LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG 2443
    Length:2,443
    Mass (Da):278,868
    Last modified:May 18, 2010 - v3
    Checksum:i9D00E0BB91931464
    GO
    Isoform 2 (identifier: Q96JI7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2070-2079: HKQMFNPTEE → ALPPGDSQPL
         2080-2443: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,079
    Mass (Da):236,490
    Checksum:i8CAED80B0AD1AA98
    GO
    Isoform 3 (identifier: Q96JI7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1956-2069: TSSLDSQKFV...ELLTSSQGTG → R

    Note: No experimental confirmation available.

    Show »
    Length:2,330
    Mass (Da):266,643
    Checksum:i6EDFD641529206D1
    GO

    Sequence cautioni

    The sequence AAH24161.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAX54692.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB15065.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAC03600.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1205 – 12051N → K in CAH10686. (PubMed:17974005)Curated
    Sequence conflicti1674 – 16741R → G in BAC03600. (PubMed:14702039)Curated
    Sequence conflicti2171 – 21711E → D in AAI50641. (PubMed:15489334)Curated
    Sequence conflicti2253 – 22531D → G in AAH94704. (PubMed:15489334)Curated
    Sequence conflicti2378 – 23781F → L in BAB15065. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti396 – 3961Y → C.
    Corresponds to variant rs3759875 [ dbSNP | Ensembl ].
    VAR_032307
    Natural varianti463 – 4631F → S.2 Publications
    Corresponds to variant rs3759871 [ dbSNP | Ensembl ].
    VAR_032308
    Natural varianti1349 – 13491F → I in SPG11. 1 Publication
    VAR_058417

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1956 – 2069114TSSLD…SQGTG → R in isoform 3. 1 PublicationVSP_045347Add
    BLAST
    Alternative sequencei2070 – 207910HKQMFNPTEE → ALPPGDSQPL in isoform 2. 1 PublicationVSP_025483
    Alternative sequencei2080 – 2443364Missing in isoform 2. 1 PublicationVSP_025484Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB058743 mRNA. Translation: BAB47469.2.
    AC009996 Genomic DNA. No translation available.
    BC024161 mRNA. Translation: AAH24161.2. Different initiation.
    BC067798 mRNA. Translation: AAH67798.1.
    BC094704 mRNA. Translation: AAH94704.1.
    BC150640 mRNA. Translation: AAI50641.1.
    BC153879 mRNA. Translation: AAI53880.1.
    AL834168 mRNA. Translation: CAH10686.1.
    AK025092 mRNA. Translation: BAB15065.1. Different initiation.
    AK091176 mRNA. Translation: BAC03600.1. Different initiation.
    AY954502 mRNA. Translation: AAX54692.1. Different initiation.
    CCDSiCCDS10112.1. [Q96JI7-1]
    CCDS53939.1. [Q96JI7-3]
    RefSeqiNP_001153699.1. NM_001160227.1. [Q96JI7-3]
    NP_079413.3. NM_025137.3. [Q96JI7-1]
    UniGeneiHs.656271.
    Hs.683876.

    Genome annotation databases

    EnsembliENST00000261866; ENSP00000261866; ENSG00000104133. [Q96JI7-1]
    ENST00000535302; ENSP00000445278; ENSG00000104133. [Q96JI7-3]
    ENST00000558319; ENSP00000453599; ENSG00000104133. [Q96JI7-2]
    GeneIDi80208.
    KEGGihsa:80208.
    UCSCiuc001ztx.3. human. [Q96JI7-1]

    Polymorphism databases

    DMDMi296452946.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB058743 mRNA. Translation: BAB47469.2 .
    AC009996 Genomic DNA. No translation available.
    BC024161 mRNA. Translation: AAH24161.2 . Different initiation.
    BC067798 mRNA. Translation: AAH67798.1 .
    BC094704 mRNA. Translation: AAH94704.1 .
    BC150640 mRNA. Translation: AAI50641.1 .
    BC153879 mRNA. Translation: AAI53880.1 .
    AL834168 mRNA. Translation: CAH10686.1 .
    AK025092 mRNA. Translation: BAB15065.1 . Different initiation.
    AK091176 mRNA. Translation: BAC03600.1 . Different initiation.
    AY954502 mRNA. Translation: AAX54692.1 . Different initiation.
    CCDSi CCDS10112.1. [Q96JI7-1 ]
    CCDS53939.1. [Q96JI7-3 ]
    RefSeqi NP_001153699.1. NM_001160227.1. [Q96JI7-3 ]
    NP_079413.3. NM_025137.3. [Q96JI7-1 ]
    UniGenei Hs.656271.
    Hs.683876.

    3D structure databases

    ProteinModelPortali Q96JI7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123177. 2 interactions.
    IntActi Q96JI7. 3 interactions.

    PTM databases

    PhosphoSitei Q96JI7.

    Polymorphism databases

    DMDMi 296452946.

    Proteomic databases

    MaxQBi Q96JI7.
    PaxDbi Q96JI7.
    PRIDEi Q96JI7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261866 ; ENSP00000261866 ; ENSG00000104133 . [Q96JI7-1 ]
    ENST00000535302 ; ENSP00000445278 ; ENSG00000104133 . [Q96JI7-3 ]
    ENST00000558319 ; ENSP00000453599 ; ENSG00000104133 . [Q96JI7-2 ]
    GeneIDi 80208.
    KEGGi hsa:80208.
    UCSCi uc001ztx.3. human. [Q96JI7-1 ]

    Organism-specific databases

    CTDi 80208.
    GeneCardsi GC15M044854.
    GeneReviewsi SPG11.
    H-InvDB HIX0012199.
    HGNCi HGNC:11226. SPG11.
    HPAi HPA040412.
    HPA040947.
    MIMi 604360. phenotype.
    610844. gene.
    neXtProti NX_Q96JI7.
    Orphaneti 2822. Autosomal recessive spastic paraplegia type 11.
    300605. Juvenile amyotrophic lateral sclerosis.
    PharmGKBi PA36058.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245863.
    HOVERGENi HBG080456.
    InParanoidi Q96JI7.
    OMAi HEASRVC.
    OrthoDBi EOG7B05C5.
    PhylomeDBi Q96JI7.
    TreeFami TF325171.

    Miscellaneous databases

    ChiTaRSi SPG11. human.
    GeneWikii SPG11.
    GenomeRNAii 80208.
    NextBioi 70590.
    PROi Q96JI7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96JI7.
    Bgeei Q96JI7.
    Genevestigatori Q96JI7.

    Family and domain databases

    InterProi IPR028103. Spatacsin.
    IPR028107. Spatacsin_C_dom.
    [Graphical view ]
    PANTHERi PTHR13650. PTHR13650. 1 hit.
    Pfami PF14649. Spatacsin_C. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-463.
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT SER-463.
      Tissue: Brain, Spinal cord, Testis and Urinary bladder.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 84-1205 (ISOFORM 1).
      Tissue: Melanoma.
    6. "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 1205-2443 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1951-2443 (ISOFORM 1).
      Tissue: Colon and Tongue.
    7. "Isolation of genes which are associated with the colorectal tumor."
      Ye F., Xiao B., Nan Q.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2386-2443.
      Tissue: Intestine.
    8. Cited for: INVOLVEMENT IN SPG11, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: INTERACTION WITH AP5Z1; AP5B1; AP5S1 AND ZFYVE26.
    11. "Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion."
      Denora P.S., Schlesinger D., Casali C., Kok F., Tessa A., Boukhris A., Azzedine H., Dotti M.T., Bruno C., Truchetto J., Biancheri R., Fedirko E., Di Rocco M., Bueno C., Malandrini A., Battini R., Sickl E., de Leva M.F.
      , Boespflug-Tanguy O., Silvestri G., Simonati A., Said E., Ferbert A., Criscuolo C., Heinimann K., Modoni A., Weber P., Palmeri S., Plasilova M., Pauri F., Cassandrini D., Battisti C., Pini A., Tosetti M., Hauser E., Masciullo M., Di Fabio R., Piccolo F., Denis E., Cioni G., Massa R., Della Giustina E., Calabrese O., Melone M.A., De Michele G., Federico A., Bertini E., Durr A., Brockmann K., van der Knaap M.S., Zatz M., Filla A., Brice A., Stevanin G., Santorelli F.M.
      Hum. Mutat. 30:E500-E519(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG11 ILE-1349.

    Entry informationi

    Entry nameiSPTCS_HUMAN
    AccessioniPrimary (citable) accession number: Q96JI7
    Secondary accession number(s): A8KAX9
    , B9EK60, F5H3N6, Q4VC11, Q58G86, Q69YG6, Q6NW01, Q8N270, Q8TBU9, Q9H734
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 101 of the entry and version 3 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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

    External Data

    Dasty 3