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Q96JI7

- SPTCS_HUMAN

UniProt

Q96JI7 - SPTCS_HUMAN

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Protein

Spatacsin

Gene
SPG11, KIAA1840
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
Complete GO annotation...

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; Multi-pass membrane protein Reviewed prediction. Cytoplasmcytosol. Nucleus
Note: Mainly cytoplasmic.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 12371237Extracellular Reviewed predictionAdd
BLAST
Transmembranei1238 – 125821Helical; Reviewed predictionAdd
BLAST
Topological domaini1259 – 1471213Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1472 – 149221Helical; Reviewed predictionAdd
BLAST
Topological domaini1493 – 2443951Extracellular Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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...) Reviewed prediction
Glycosylationi1046 – 10461N-linked (GlcNAc...) Reviewed prediction

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.

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.

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. VSP_045347Add
BLAST
Alternative sequencei2070 – 207910HKQMFNPTEE → ALPPGDSQPL in isoform 2. VSP_025483
Alternative sequencei2080 – 2443364Missing in isoform 2. VSP_025484Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1205 – 12051N → K in CAH10686. 1 Publication
Sequence conflicti1674 – 16741R → G in BAC03600. 1 Publication
Sequence conflicti2171 – 21711E → D in AAI50641. 1 Publication
Sequence conflicti2253 – 22531D → G in AAH94704. 1 Publication
Sequence conflicti2378 – 23781F → L in BAB15065. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 100 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

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