SPTCS_HUMAN
ID SPTCS_HUMAN Reviewed; 2443 AA.
AC Q96JI7; A8KAX9; B9EK60; F5H3N6; Q4VC11; Q58G86; Q69YG6; Q6NW01; Q8N270;
AC Q8TBU9; Q9H734;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Spatacsin;
DE AltName: Full=Colorectal carcinoma-associated protein;
DE AltName: Full=Spastic paraplegia 11 protein;
GN Name=SPG11; Synonyms=KIAA1840;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-463.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP SER-463.
RC TISSUE=Brain, Spinal cord, Testis, and Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 84-1205 (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1205-2443 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1951-2443 (ISOFORM 1).
RC TISSUE=Colon, and Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2386-2443.
RC TISSUE=Intestine;
RA Ye F., Xiao B., Nan Q.;
RT "Isolation of genes which are associated with the colorectal tumor.";
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP INVOLVEMENT IN SPG11, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17322883; DOI=10.1038/ng1980;
RA Stevanin G., Santorelli F.M., Azzedine H., Coutinho P., Chomilier J.,
RA Denora P.S., Martin E., Ouvrard-Hernandez A.-M., Tessa A., Bouslam N.,
RA Lossos A., Charles P., Loureiro J.L., Elleuch N., Confavreux C., Cruz V.T.,
RA Ruberg M., Leguern E., Grid D., Tazir M., Fontaine B., Filla A.,
RA Bertini E., Durr A., Brice A.;
RT "Mutations in SPG11, encoding spatacsin, are a major cause of spastic
RT paraplegia with thin corpus callosum.";
RL Nat. Genet. 39:366-372(2007).
RN [9]
RP INVOLVEMENT IN SPG11.
RX PubMed=18079167; DOI=10.1093/brain/awm293;
RG SPATAX consortium;
RA Stevanin G., Azzedine H., Denora P., Boukhris A., Tazir M., Lossos A.,
RA Rosa A.L., Lerer I., Hamri A., Alegria P., Loureiro J., Tada M.,
RA Hannequin D., Anheim M., Goizet C., Gonzalez-Martinez V., Le Ber I.,
RA Forlani S., Iwabuchi K., Meiner V., Uyanik G., Erichsen A.K., Feki I.,
RA Pasquier F., Belarbi S., Cruz V.T., Depienne C., Truchetto J.,
RA Garrigues G., Tallaksen C., Tranchant C., Nishizawa M., Vale J.,
RA Coutinho P., Santorelli F.M., Mhiri C., Brice A., Durr A.;
RT "Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia
RT with thin corpus callosum, cognitive decline and lower motor neuron
RT degeneration.";
RL Brain 131:772-784(2008).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [11]
RP INVOLVEMENT IN ALS5.
RX PubMed=20110243; DOI=10.1093/brain/awp325;
RA Orlacchio A., Babalini C., Borreca A., Patrono C., Massa R., Basaran S.,
RA Munhoz R.P., Rogaeva E.A., St George-Hyslop P.H., Bernardi G., Kawarai T.;
RT "SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral
RT sclerosis.";
RL Brain 133:591-598(2010).
RN [12]
RP INTERACTION WITH AP5Z1; AP5B1; AP5S1 AND ZFYVE26.
RX PubMed=20613862; DOI=10.1371/journal.pbio.1000408;
RA Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E.,
RA Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I.,
RA Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A.,
RA Camdessanche J.P., Brice A., Shevchenko A., Pisabarro M.T., Stevanin G.,
RA Buchholz F.;
RT "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene
RT associated with hereditary spastic paraplegia.";
RL PLoS Biol. 8:E1000408-E1000408(2010).
RN [13]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=24794856; DOI=10.1093/hmg/ddu200;
RA Perez-Branguli F., Mishra H.K., Prots I., Havlicek S., Kohl Z., Saul D.,
RA Rummel C., Dorca-Arevalo J., Regensburger M., Graef D., Sock E., Blasi J.,
RA Groemer T.W., Schloetzer-Schrehardt U., Winkler J., Winner B.;
RT "Dysfunction of spatacsin leads to axonal pathology in SPG11-linked
RT hereditary spastic paraplegia.";
RL Hum. Mol. Genet. 23:4859-4874(2014).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [15]
RP VARIANT SPG11 ILE-1349.
RX PubMed=19105190; DOI=10.1002/humu.20945;
RA Denora P.S., Schlesinger D., Casali C., Kok F., Tessa A., Boukhris A.,
RA Azzedine H., Dotti M.T., Bruno C., Truchetto J., Biancheri R., Fedirko E.,
RA Di Rocco M., Bueno C., Malandrini A., Battini R., Sickl E., de Leva M.F.,
RA Boespflug-Tanguy O., Silvestri G., Simonati A., Said E., Ferbert A.,
RA Criscuolo C., Heinimann K., Modoni A., Weber P., Palmeri S., Plasilova M.,
RA Pauri F., Cassandrini D., Battisti C., Pini A., Tosetti M., Hauser E.,
RA Masciullo M., Di Fabio R., Piccolo F., Denis E., Cioni G., Massa R.,
RA Della Giustina E., Calabrese O., Melone M.A., De Michele G., Federico A.,
RA Bertini E., Durr A., Brockmann K., van der Knaap M.S., Zatz M., Filla A.,
RA Brice A., Stevanin G., Santorelli F.M.;
RT "Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations
RT and includes a large scale gene deletion.";
RL Hum. Mutat. 30:E500-E519(2009).
RN [16]
RP INVOLVEMENT IN CMT2X.
RX PubMed=26556829; DOI=10.1093/brain/awv320;
RA Montecchiani C., Pedace L., Lo Giudice T., Casella A., Mearini M.,
RA Gaudiello F., Pedroso J.L., Terracciano C., Caltagirone C., Massa R.,
RA St George-Hyslop P.H., Barsottini O.G., Kawarai T., Orlacchio A.;
RT "ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-
RT Marie-Tooth disease.";
RL Brain 139:73-85(2016).
RN [17]
RP VARIANTS SPG11 LEU-412; LEU-1208; ASP-1270; ILE-2298 DEL; PRO-2300 AND
RP PRO-2334.
RX PubMed=27217339; DOI=10.1093/brain/aww111;
RA Kara E., Tucci A., Manzoni C., Lynch D.S., Elpidorou M., Bettencourt C.,
RA Chelban V., Manole A., Hamed S.A., Haridy N.A., Federoff M., Preza E.,
RA Hughes D., Pittman A., Jaunmuktane Z., Brandner S., Xiromerisiou G.,
RA Wiethoff S., Schottlaender L., Proukakis C., Morris H., Warner T.,
RA Bhatia K.P., Korlipara L.V., Singleton A.B., Hardy J., Wood N.W.,
RA Lewis P.A., Houlden H.;
RT "Genetic and phenotypic characterization of complex hereditary spastic
RT paraplegia.";
RL Brain 139:1904-1918(2016).
CC -!- FUNCTION: May play a role in neurite plasticity by maintaining
CC cytoskeleton stability and regulating synaptic vesicle transport.
CC {ECO:0000269|PubMed:24794856}.
CC -!- SUBUNIT: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
CC {ECO:0000269|PubMed:20613862}.
CC -!- INTERACTION:
CC Q96JI7; Q05193: DNM1; NbExp=2; IntAct=EBI-2822128, EBI-713135;
CC Q96JI7; Q9UJW9: SERTAD3; NbExp=3; IntAct=EBI-2822128, EBI-748621;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17322883}.
CC Nucleus {ECO:0000269|PubMed:17322883}. Cell projection, axon
CC {ECO:0000269|PubMed:24794856}. Cell projection, dendrite
CC {ECO:0000269|PubMed:24794856}. Note=Mainly cytoplasmic.
CC {ECO:0000269|PubMed:17322883}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96JI7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JI7-2; Sequence=VSP_025483, VSP_025484;
CC Name=3;
CC IsoId=Q96JI7-3; Sequence=VSP_045347;
CC -!- TISSUE SPECIFICITY: Expressed in all structures of brain, with a high
CC expression in cerebellum. Expressed in cortical projection neurons.
CC {ECO:0000269|PubMed:17322883, ECO:0000269|PubMed:24794856}.
CC -!- DISEASE: Spastic paraplegia 11, autosomal recessive (SPG11)
CC [MIM:604360]: A form of spastic paraplegia, a neurodegenerative
CC disorder characterized by a slow, gradual, progressive weakness and
CC spasticity of the lower limbs. Rate of progression and the severity of
CC symptoms are quite variable. Initial symptoms may include difficulty
CC with balance, weakness and stiffness in the legs, muscle spasms, and
CC dragging the toes when walking. In some forms of the disorder, bladder
CC symptoms (such as incontinence) may appear, or the weakness and
CC stiffness may spread to other parts of the body.
CC {ECO:0000269|PubMed:17322883, ECO:0000269|PubMed:18079167,
CC ECO:0000269|PubMed:19105190, ECO:0000269|PubMed:27217339}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Amyotrophic lateral sclerosis 5, juvenile (ALS5) [MIM:602099]:
CC A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
CC affecting upper motor neurons in the brain and lower motor neurons in
CC the brain stem and spinal cord, resulting in fatal paralysis. Sensory
CC abnormalities are absent. The pathologic hallmarks of the disease
CC include pallor of the corticospinal tract due to loss of motor neurons,
CC presence of ubiquitin-positive inclusions within surviving motor
CC neurons, and deposition of pathologic aggregates. The etiology of
CC amyotrophic lateral sclerosis is likely to be multifactorial, involving
CC both genetic and environmental factors. The disease is inherited in 5-
CC 10% of the cases. ALS5 is an autosomal recessive, juvenile form
CC characterized by onset of upper and lower motor neuron signs before age
CC 25. {ECO:0000269|PubMed:20110243}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease 2X (CMT2X) [MIM:616668]: An
CC autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a
CC disorder of the peripheral nervous system, characterized by progressive
CC weakness and atrophy, initially of the peroneal muscles and later of
CC the distal muscles of the arms. Charcot-Marie-Tooth disease is
CC classified in two main groups on the basis of electrophysiologic
CC properties and histopathology: primary peripheral demyelinating
CC neuropathies (designated CMT1 when they are dominantly inherited) and
CC primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2
CC group are characterized by signs of axonal degeneration in the absence
CC of obvious myelin alterations, normal or slightly reduced nerve
CC conduction velocities, and progressive distal muscle weakness and
CC atrophy. CMT2X patients manifest a slowly progressive, peripheral
CC neuropathy affecting the lower limbs and resulting in gait difficulties
CC and distal sensory impairment. Some patients also have upper limb
CC involvement. {ECO:0000269|PubMed:26556829}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH24161.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAX54692.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15065.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC03600.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB058743; BAB47469.2; -; mRNA.
DR EMBL; AC009996; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC024161; AAH24161.2; ALT_INIT; mRNA.
DR EMBL; BC067798; AAH67798.1; -; mRNA.
DR EMBL; BC094704; AAH94704.1; -; mRNA.
DR EMBL; BC150640; AAI50641.1; -; mRNA.
DR EMBL; BC153879; AAI53880.1; -; mRNA.
DR EMBL; AL834168; CAH10686.1; -; mRNA.
DR EMBL; AK025092; BAB15065.1; ALT_INIT; mRNA.
DR EMBL; AK091176; BAC03600.1; ALT_INIT; mRNA.
DR EMBL; AY954502; AAX54692.1; ALT_INIT; mRNA.
DR CCDS; CCDS10112.1; -. [Q96JI7-1]
DR CCDS; CCDS53939.1; -. [Q96JI7-3]
DR RefSeq; NP_001153699.1; NM_001160227.1. [Q96JI7-3]
DR RefSeq; NP_079413.3; NM_025137.3. [Q96JI7-1]
DR AlphaFoldDB; Q96JI7; -.
DR BioGRID; 123177; 59.
DR CORUM; Q96JI7; -.
DR IntAct; Q96JI7; 11.
DR MINT; Q96JI7; -.
DR STRING; 9606.ENSP00000261866; -.
DR iPTMnet; Q96JI7; -.
DR PhosphoSitePlus; Q96JI7; -.
DR BioMuta; SPG11; -.
DR DMDM; 296452946; -.
DR EPD; Q96JI7; -.
DR jPOST; Q96JI7; -.
DR MassIVE; Q96JI7; -.
DR MaxQB; Q96JI7; -.
DR PaxDb; Q96JI7; -.
DR PeptideAtlas; Q96JI7; -.
DR PRIDE; Q96JI7; -.
DR ProteomicsDB; 26327; -.
DR ProteomicsDB; 76968; -. [Q96JI7-1]
DR ProteomicsDB; 76969; -. [Q96JI7-2]
DR Antibodypedia; 11596; 95 antibodies from 23 providers.
DR DNASU; 80208; -.
DR Ensembl; ENST00000261866.12; ENSP00000261866.7; ENSG00000104133.16. [Q96JI7-1]
DR Ensembl; ENST00000535302.6; ENSP00000445278.2; ENSG00000104133.16. [Q96JI7-3]
DR Ensembl; ENST00000558319.5; ENSP00000453599.1; ENSG00000104133.16. [Q96JI7-2]
DR GeneID; 80208; -.
DR KEGG; hsa:80208; -.
DR MANE-Select; ENST00000261866.12; ENSP00000261866.7; NM_025137.4; NP_079413.3.
DR UCSC; uc001ztx.4; human. [Q96JI7-1]
DR CTD; 80208; -.
DR DisGeNET; 80208; -.
DR GeneCards; SPG11; -.
DR GeneReviews; SPG11; -.
DR HGNC; HGNC:11226; SPG11.
DR HPA; ENSG00000104133; Low tissue specificity.
DR MalaCards; SPG11; -.
DR MIM; 602099; phenotype.
DR MIM; 604360; phenotype.
DR MIM; 610844; gene.
DR MIM; 616668; phenotype.
DR neXtProt; NX_Q96JI7; -.
DR OpenTargets; ENSG00000104133; -.
DR Orphanet; 466775; Autosomal recessive Charcot-Marie-Tooth disease type 2X.
DR Orphanet; 2822; Autosomal recessive spastic paraplegia type 11.
DR Orphanet; 300605; Juvenile amyotrophic lateral sclerosis.
DR PharmGKB; PA36058; -.
DR VEuPathDB; HostDB:ENSG00000104133; -.
DR eggNOG; KOG1884; Eukaryota.
DR GeneTree; ENSGT00390000016791; -.
DR HOGENOM; CLU_001081_0_0_1; -.
DR InParanoid; Q96JI7; -.
DR OMA; SYCEDIY; -.
DR OrthoDB; 743479at2759; -.
DR PhylomeDB; Q96JI7; -.
DR TreeFam; TF325171; -.
DR PathwayCommons; Q96JI7; -.
DR SignaLink; Q96JI7; -.
DR BioGRID-ORCS; 80208; 14 hits in 1079 CRISPR screens.
DR ChiTaRS; SPG11; human.
DR GeneWiki; SPG11; -.
DR GenomeRNAi; 80208; -.
DR Pharos; Q96JI7; Tbio.
DR PRO; PR:Q96JI7; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q96JI7; protein.
DR Bgee; ENSG00000104133; Expressed in bronchial epithelial cell and 203 other tissues.
DR ExpressionAtlas; Q96JI7; baseline and differential.
DR Genevisible; Q96JI7; HS.
DR GO; GO:0030424; C:axon; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0031410; C:cytoplasmic vesicle; IDA:MGI.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR GO; GO:0005765; C:lysosomal membrane; HDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0045202; C:synapse; IDA:UniProtKB.
DR GO; GO:0019901; F:protein kinase binding; IDA:MGI.
DR GO; GO:1905037; P:autophagosome organization; IDA:MGI.
DR GO; GO:0008088; P:axo-dendritic transport; IMP:UniProtKB.
DR GO; GO:0048675; P:axon extension; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IMP:UniProtKB.
DR GO; GO:0033344; P:cholesterol efflux; IEA:Ensembl.
DR GO; GO:0021957; P:corticospinal tract morphogenesis; IEA:Ensembl.
DR GO; GO:0051668; P:localization within membrane; IEA:Ensembl.
DR GO; GO:0007040; P:lysosome organization; IDA:MGI.
DR GO; GO:0007613; P:memory; IEA:Ensembl.
DR GO; GO:0061744; P:motor behavior; IEA:Ensembl.
DR GO; GO:0097049; P:motor neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0007528; P:neuromuscular junction development; IEA:Ensembl.
DR GO; GO:0090389; P:phagosome-lysosome fusion involved in apoptotic cell clearance; IEA:Ensembl.
DR GO; GO:0006606; P:protein import into nucleus; IEA:Ensembl.
DR GO; GO:2001256; P:regulation of store-operated calcium entry; IEA:Ensembl.
DR GO; GO:0048741; P:skeletal muscle fiber development; IEA:Ensembl.
DR GO; GO:0048489; P:synaptic vesicle transport; IMP:UniProtKB.
DR GO; GO:0090659; P:walking behavior; IEA:Ensembl.
DR InterPro; IPR028103; Spatacsin.
DR InterPro; IPR028107; Spatacsin_C_dom.
DR PANTHER; PTHR13650; PTHR13650; 1.
DR Pfam; PF14649; Spatacsin_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Amyotrophic lateral sclerosis; Cell projection;
KW Charcot-Marie-Tooth disease; Cytoplasm; Hereditary spastic paraplegia;
KW Neurodegeneration; Neuropathy; Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..2443
FT /note="Spatacsin"
FT /id="PRO_0000287467"
FT MOD_RES 1955
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3UHA3"
FT VAR_SEQ 1956..2069
FT /note="TSSLDSQKFVTVPSSNEVVTNLEVLTSKCLHGKNYCRQVLCLYDLAKELGCS
FT YTDVAAQDGEAMLRKILASQQPDRCKRAQAFISTQGLKPDTVAELVAEEVTRELLTSSQ
FT GTG -> R (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045347"
FT VAR_SEQ 2070..2079
FT /note="HKQMFNPTEE -> ALPPGDSQPL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025483"
FT VAR_SEQ 2080..2443
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025484"
FT VARIANT 396
FT /note="Y -> C (in dbSNP:rs3759875)"
FT /id="VAR_032307"
FT VARIANT 412
FT /note="S -> L (in SPG11; unknown pathological significance;
FT dbSNP:rs312262723)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078057"
FT VARIANT 463
FT /note="F -> S (in dbSNP:rs3759871)"
FT /evidence="ECO:0000269|PubMed:11347906,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032308"
FT VARIANT 1208
FT /note="P -> L (in SPG11; unknown pathological significance;
FT dbSNP:rs779830116)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078058"
FT VARIANT 1270
FT /note="V -> D (in SPG11; unknown pathological significance;
FT dbSNP:rs1555451521)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078059"
FT VARIANT 1349
FT /note="F -> I (in SPG11; dbSNP:rs1567149547)"
FT /evidence="ECO:0000269|PubMed:19105190"
FT /id="VAR_058417"
FT VARIANT 2298
FT /note="Missing (in SPG11; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078060"
FT VARIANT 2300
FT /note="L -> P (in SPG11; unknown pathological significance;
FT dbSNP:rs371334506)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078061"
FT VARIANT 2334
FT /note="A -> P (in SPG11; unknown pathological significance;
FT dbSNP:rs764647588)"
FT /evidence="ECO:0000269|PubMed:27217339"
FT /id="VAR_078062"
FT CONFLICT 1205
FT /note="N -> K (in Ref. 5; CAH10686)"
FT /evidence="ECO:0000305"
FT CONFLICT 1674
FT /note="R -> G (in Ref. 6; BAC03600)"
FT /evidence="ECO:0000305"
FT CONFLICT 2171
FT /note="E -> D (in Ref. 4; AAI50641)"
FT /evidence="ECO:0000305"
FT CONFLICT 2253
FT /note="D -> G (in Ref. 4; AAH94704)"
FT /evidence="ECO:0000305"
FT CONFLICT 2378
FT /note="F -> L (in Ref. 6; BAB15065)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2443 AA; 278868 MW; 9D00E0BB91931464 CRC64;
MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ PEALGSLTAA
GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE KPKLLALGEN YELLIYEFNL
KDGRCDATIL YSCSREALQK LIDDQDISIS LLSLRILSFH NNTSLLFINK CVILHIIFPE
RDAAIRVLNC FTLPLPAQAV DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL
HKEDMCNEQQ QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER
ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK NSKLEVSCCA
PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ KDHAKTSDPG RSWKIMHISE
QEEPIELKCV SVTGFTALFT WEVERMGYTI TLWDLETQGM QCFSLGTKCI PVDSSGDQQL
CFVLTENGLS LILFGLTQEE FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR
QLDTVNFFLK SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE
PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL RTFMIKFPWK
LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK IPEAQTFFRI DSHSAQKLEE
LIGIGLNLVF DNLKKNNIKE ASELLKNMGF DVKGQLLKIC FYTTNKNIRD FLVEILKEKN
YFSEKEKRTI DFVHQVEKLY LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD
EFNKQDHRIV LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI
GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL ASELEDFECF
LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS LQHLLYVYLD CYKLSPENCP
FLEKKELHEA HPWFEFLVQC RQVASNLTDP KLIFQASLAN AQILIPTNQA SVSSMLLEGH
TLLALATTMY SPGGVSQVVQ NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL
PSDITIYHLI QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA
YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI GAACVCFLEL
LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK LSKLADGEKT TTEELLVLLE
EGTWNSIQQQ EIKRLSSESS SQWALVVQFC RLHNMKLSIS YLRECAKAND WLQFIIHSQL
HNYHPAEVKS LIQYFSPVIQ DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD
LFEILLQCSE EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT
EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL LVMEMYELCM
FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED QVCFLLKLML QQCKTQYELG
KLLQLFVERE HLFSDGPDVK KLCILCQILK DTSIAINHTI ITSYSIENLQ HECRSILERL
QTDGQFALAR RVAELAELPV DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK
NSISSKAASS FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ
IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN TSKYLELNSL
PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY FHFYNPDVAL VLHCRALASG
EASMEDLHPE IHALLQSAEL LEEEAPDIPL RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL
TSKCLHGKNY CRQVLCLYDL AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS
TQGLKPDTVA ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL
LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL APSEEYGLVV
RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK TALLDYIKRC RPGDSEKHNM
IALCFSMCRE IGENHEAAAR IQLKLIESQP WEDSLKDGHQ LKQLLLKALT LMLDAAESYA
KDSCVRQAQH CQRLTKLITL QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA
YDFVPDWAEI LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK
LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG
