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Q96JI7

- SPTCS_HUMAN

UniProt

Q96JI7 - SPTCS_HUMAN

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Protein

Spatacsin

Gene

SPG11

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

Functioni

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 12371237ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1238 – 125821HelicalSequence AnalysisAdd
BLAST
Topological domaini1259 – 1471213CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1472 – 149221HelicalSequence AnalysisAdd
BLAST
Topological domaini1493 – 2443951ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

BgeeiQ96JI7.
ExpressionAtlasiQ96JI7. baseline and differential.
GenevestigatoriQ96JI7.

Organism-specific databases

HPAiHPA040412.
HPA040947.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi123177. 3 interactions.
IntActiQ96JI7. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96JI7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG245863.
GeneTreeiENSGT00390000016791.
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

        10         20         30         40         50
MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ
60 70 80 90 100
PEALGSLTAA GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE
110 120 130 140 150
KPKLLALGEN YELLIYEFNL KDGRCDATIL YSCSREALQK LIDDQDISIS
160 170 180 190 200
LLSLRILSFH NNTSLLFINK CVILHIIFPE RDAAIRVLNC FTLPLPAQAV
210 220 230 240 250
DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL HKEDMCNEQQ
260 270 280 290 300
QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER
310 320 330 340 350
ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK
360 370 380 390 400
NSKLEVSCCA PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ
410 420 430 440 450
KDHAKTSDPG RSWKIMHISE QEEPIELKCV SVTGFTALFT WEVERMGYTI
460 470 480 490 500
TLWDLETQGM QCFSLGTKCI PVDSSGDQQL CFVLTENGLS LILFGLTQEE
510 520 530 540 550
FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR QLDTVNFFLK
560 570 580 590 600
SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE
610 620 630 640 650
PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL
660 670 680 690 700
RTFMIKFPWK LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK
710 720 730 740 750
IPEAQTFFRI DSHSAQKLEE LIGIGLNLVF DNLKKNNIKE ASELLKNMGF
760 770 780 790 800
DVKGQLLKIC FYTTNKNIRD FLVEILKEKN YFSEKEKRTI DFVHQVEKLY
810 820 830 840 850
LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD EFNKQDHRIV
860 870 880 890 900
LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI
910 920 930 940 950
GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL
960 970 980 990 1000
ASELEDFECF LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS
1010 1020 1030 1040 1050
LQHLLYVYLD CYKLSPENCP FLEKKELHEA HPWFEFLVQC RQVASNLTDP
1060 1070 1080 1090 1100
KLIFQASLAN AQILIPTNQA SVSSMLLEGH TLLALATTMY SPGGVSQVVQ
1110 1120 1130 1140 1150
NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL PSDITIYHLI
1160 1170 1180 1190 1200
QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA
1210 1220 1230 1240 1250
YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI
1260 1270 1280 1290 1300
GAACVCFLEL LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK
1310 1320 1330 1340 1350
LSKLADGEKT TTEELLVLLE EGTWNSIQQQ EIKRLSSESS SQWALVVQFC
1360 1370 1380 1390 1400
RLHNMKLSIS YLRECAKAND WLQFIIHSQL HNYHPAEVKS LIQYFSPVIQ
1410 1420 1430 1440 1450
DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD LFEILLQCSE
1460 1470 1480 1490 1500
EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT
1510 1520 1530 1540 1550
EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL
1560 1570 1580 1590 1600
LVMEMYELCM FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED
1610 1620 1630 1640 1650
QVCFLLKLML QQCKTQYELG KLLQLFVERE HLFSDGPDVK KLCILCQILK
1660 1670 1680 1690 1700
DTSIAINHTI ITSYSIENLQ HECRSILERL QTDGQFALAR RVAELAELPV
1710 1720 1730 1740 1750
DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK NSISSKAASS
1760 1770 1780 1790 1800
FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ
1810 1820 1830 1840 1850
IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN
1860 1870 1880 1890 1900
TSKYLELNSL PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY
1910 1920 1930 1940 1950
FHFYNPDVAL VLHCRALASG EASMEDLHPE IHALLQSAEL LEEEAPDIPL
1960 1970 1980 1990 2000
RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL TSKCLHGKNY CRQVLCLYDL
2010 2020 2030 2040 2050
AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS TQGLKPDTVA
2060 2070 2080 2090 2100
ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL
2110 2120 2130 2140 2150
LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL
2160 2170 2180 2190 2200
APSEEYGLVV RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK
2210 2220 2230 2240 2250
TALLDYIKRC RPGDSEKHNM IALCFSMCRE IGENHEAAAR IQLKLIESQP
2260 2270 2280 2290 2300
WEDSLKDGHQ LKQLLLKALT LMLDAAESYA KDSCVRQAQH CQRLTKLITL
2310 2320 2330 2340 2350
QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA YDFVPDWAEI
2360 2370 2380 2390 2400
LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK
2410 2420 2430 2440
LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG
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.Curated
The sequence AAX54692.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15065.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03600.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 3 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.
GeneTreei ENSGT00390000016791.
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

Bgeei Q96JI7.
ExpressionAtlasi Q96JI7. baseline and differential.
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: October 29, 2014
This is version 102 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