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Q96JI7 (SPTCS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Spatacsin
Alternative name(s):
Colorectal carcinoma-associated protein
Spastic paraplegia 11 protein
Gene names
Name:SPG11
Synonyms:KIAA1840
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2443 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26. Ref.10

Subcellular location

Membrane; Multi-pass membrane protein Potential. Cytoplasmcytosol. Nucleus. Note: Mainly cytoplasmic. Ref.8

Tissue specificity

Expressed in all structures of brain, with a high expression in cerebellum. Ref.8

Involvement in disease

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. Ref.8 Ref.11

Sequence caution

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.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JI7-1)

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.
Isoform 2 (identifier: Q96JI7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2070-2079: HKQMFNPTEE → ALPPGDSQPL
     2080-2443: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96JI7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1956-2069: TSSLDSQKFV...ELLTSSQGTG → R
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 24432443Spatacsin
PRO_0000287467

Regions

Topological domain1 – 12371237Extracellular Potential
Transmembrane1238 – 125821Helical; Potential
Topological domain1259 – 1471213Cytoplasmic Potential
Transmembrane1472 – 149221Helical; Potential
Topological domain1493 – 2443951Extracellular Potential

Amino acid modifications

Glycosylation6121N-linked (GlcNAc...) Potential
Glycosylation10461N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1956 – 2069114TSSLD…SQGTG → R in isoform 3.
VSP_045347
Alternative sequence2070 – 207910HKQMFNPTEE → ALPPGDSQPL in isoform 2.
VSP_025483
Alternative sequence2080 – 2443364Missing in isoform 2.
VSP_025484
Natural variant3961Y → C.
Corresponds to variant rs3759875 [ dbSNP | Ensembl ].
VAR_032307
Natural variant4631F → S. Ref.1 Ref.4
Corresponds to variant rs3759871 [ dbSNP | Ensembl ].
VAR_032308
Natural variant13491F → I in SPG11. Ref.11
VAR_058417

Experimental info

Sequence conflict12051N → K in CAH10686. Ref.5
Sequence conflict16741R → G in BAC03600. Ref.6
Sequence conflict21711E → D in AAI50641. Ref.4
Sequence conflict22531D → G in AAH94704. Ref.4
Sequence conflict23781F → L in BAB15065. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 9D00E0BB91931464

FASTA2,443278,868
        10         20         30         40         50         60 
MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ PEALGSLTAA 

        70         80         90        100        110        120 
GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE KPKLLALGEN YELLIYEFNL 

       130        140        150        160        170        180 
KDGRCDATIL YSCSREALQK LIDDQDISIS LLSLRILSFH NNTSLLFINK CVILHIIFPE 

       190        200        210        220        230        240 
RDAAIRVLNC FTLPLPAQAV DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL 

       250        260        270        280        290        300 
HKEDMCNEQQ QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER 

       310        320        330        340        350        360 
ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK NSKLEVSCCA 

       370        380        390        400        410        420 
PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ KDHAKTSDPG RSWKIMHISE 

       430        440        450        460        470        480 
QEEPIELKCV SVTGFTALFT WEVERMGYTI TLWDLETQGM QCFSLGTKCI PVDSSGDQQL 

       490        500        510        520        530        540 
CFVLTENGLS LILFGLTQEE FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR 

       550        560        570        580        590        600 
QLDTVNFFLK SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE 

       610        620        630        640        650        660 
PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL RTFMIKFPWK 

       670        680        690        700        710        720 
LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK IPEAQTFFRI DSHSAQKLEE 

       730        740        750        760        770        780 
LIGIGLNLVF DNLKKNNIKE ASELLKNMGF DVKGQLLKIC FYTTNKNIRD FLVEILKEKN 

       790        800        810        820        830        840 
YFSEKEKRTI DFVHQVEKLY LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD 

       850        860        870        880        890        900 
EFNKQDHRIV LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI 

       910        920        930        940        950        960 
GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL ASELEDFECF 

       970        980        990       1000       1010       1020 
LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS LQHLLYVYLD CYKLSPENCP 

      1030       1040       1050       1060       1070       1080 
FLEKKELHEA HPWFEFLVQC RQVASNLTDP KLIFQASLAN AQILIPTNQA SVSSMLLEGH 

      1090       1100       1110       1120       1130       1140 
TLLALATTMY SPGGVSQVVQ NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL 

      1150       1160       1170       1180       1190       1200 
PSDITIYHLI QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA 

      1210       1220       1230       1240       1250       1260 
YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI GAACVCFLEL 

      1270       1280       1290       1300       1310       1320 
LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK LSKLADGEKT TTEELLVLLE 

      1330       1340       1350       1360       1370       1380 
EGTWNSIQQQ EIKRLSSESS SQWALVVQFC RLHNMKLSIS YLRECAKAND WLQFIIHSQL 

      1390       1400       1410       1420       1430       1440 
HNYHPAEVKS LIQYFSPVIQ DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD 

      1450       1460       1470       1480       1490       1500 
LFEILLQCSE EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT 

      1510       1520       1530       1540       1550       1560 
EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL LVMEMYELCM 

      1570       1580       1590       1600       1610       1620 
FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED QVCFLLKLML QQCKTQYELG 

      1630       1640       1650       1660       1670       1680 
KLLQLFVERE HLFSDGPDVK KLCILCQILK DTSIAINHTI ITSYSIENLQ HECRSILERL 

      1690       1700       1710       1720       1730       1740 
QTDGQFALAR RVAELAELPV DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK 

      1750       1760       1770       1780       1790       1800 
NSISSKAASS FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ 

      1810       1820       1830       1840       1850       1860 
IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN TSKYLELNSL 

      1870       1880       1890       1900       1910       1920 
PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY FHFYNPDVAL VLHCRALASG 

      1930       1940       1950       1960       1970       1980 
EASMEDLHPE IHALLQSAEL LEEEAPDIPL RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL 

      1990       2000       2010       2020       2030       2040 
TSKCLHGKNY CRQVLCLYDL AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS 

      2050       2060       2070       2080       2090       2100 
TQGLKPDTVA ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL 

      2110       2120       2130       2140       2150       2160 
LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL APSEEYGLVV 

      2170       2180       2190       2200       2210       2220 
RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK TALLDYIKRC RPGDSEKHNM 

      2230       2240       2250       2260       2270       2280 
IALCFSMCRE IGENHEAAAR IQLKLIESQP WEDSLKDGHQ LKQLLLKALT LMLDAAESYA 

      2290       2300       2310       2320       2330       2340 
KDSCVRQAQH CQRLTKLITL QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA 

      2350       2360       2370       2380       2390       2400 
YDFVPDWAEI LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK 

      2410       2420       2430       2440 
LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG 

« Hide

Isoform 2 [UniParc].

Checksum: 8CAED80B0AD1AA98
Show »

FASTA2,079236,490
Isoform 3 [UniParc].

Checksum: 6EDFD641529206D1
Show »

FASTA2,330266,643

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum."
Stevanin G., Santorelli F.M., Azzedine H., Coutinho P., Chomilier J., Denora P.S., Martin E., Ouvrard-Hernandez A.-M., Tessa A., Bouslam N., Lossos A., Charles P., Loureiro J.L., Elleuch N., Confavreux C., Cruz V.T., Ruberg M., Leguern E. expand/collapse author list , Grid D., Tazir M., Fontaine B., Filla A., Bertini E., Durr A., Brice A.
Nat. Genet. 39:366-372(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG11, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia."
Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E., Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I., Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A., Camdessanche J.P., Brice A., Shevchenko A. expand/collapse author list , Pisabarro M.T., Stevanin G., Buchholz F.
PLoS Biol. 8:E1000408-E1000408(2010) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001153699.1. NM_001160227.1.
NP_079413.3. NM_025137.3.
UniGeneHs.656271.
Hs.683876.

3D structure databases

ProteinModelPortalQ96JI7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123177. 2 interactions.
IntActQ96JI7. 3 interactions.

PTM databases

PhosphoSiteQ96JI7.

Polymorphism databases

DMDM296452946.

Proteomic databases

PaxDbQ96JI7.
PRIDEQ96JI7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261866; ENSP00000261866; ENSG00000104133. [Q96JI7-1]
ENST00000535302; ENSP00000445278; ENSG00000104133. [Q96JI7-3]
ENST00000558319; ENSP00000453599; ENSG00000104133. [Q96JI7-2]
GeneID80208.
KEGGhsa:80208.
UCSCuc001ztx.3. human. [Q96JI7-1]

Organism-specific databases

CTD80208.
GeneCardsGC15M044854.
H-InvDBHIX0012199.
HGNCHGNC:11226. SPG11.
HPAHPA040412.
HPA040947.
MIM604360. phenotype.
610844. gene.
neXtProtNX_Q96JI7.
Orphanet2822. Autosomal recessive spastic paraplegia type 11.
300605. Juvenile amyotrophic lateral sclerosis.
PharmGKBPA36058.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245863.
HOVERGENHBG080456.
InParanoidQ96JI7.
OMAHEASRVC.
OrthoDBEOG7B05C5.
PhylomeDBQ96JI7.
TreeFamTF325171.

Gene expression databases

ArrayExpressQ96JI7.
BgeeQ96JI7.
GenevestigatorQ96JI7.

Family and domain databases

InterProIPR028103. Spatacsin.
IPR028107. Spatacsin_C_dom.
[Graphical view]
PANTHERPTHR13650. PTHR13650. 1 hit.
PfamPF14649. Spatacsin_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSPG11. human.
GeneWikiSPG11.
GenomeRNAi80208.
NextBio70590.
PROQ96JI7.
SOURCESearch...

Entry information

Entry nameSPTCS_HUMAN
AccessionPrimary (citable) accession number: Q96JI7
Secondary accession number(s): A8KAX9 expand/collapse secondary AC list , B9EK60, F5H3N6, Q4VC11, Q58G86, Q69YG6, Q6NW01, Q8N270, Q8TBU9, Q9H734
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 95 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM