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Spatacsin (Spastic paraplegia 11 protein homolog)

 SPTCS_MOUSE             Reviewed;        2430 AA.
Q3UHA3; A2ARM0; Q6ZPH3; Q8BHQ1; Q8C7R3; Q8C7U2; Q8CA88; Q8VEA5;
15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
27-JUL-2011, sequence version 3.
07-JUN-2017, entry version 94.
RecName: Full=Spatacsin;
AltName: Full=Spastic paraplegia 11 protein homolog;
Name=Spg11; Synonyms=Kiaa1840;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
STRAIN=C57BL/6J; TISSUE=Spinal cord;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 851-2430 (ISOFORM 1).
TISSUE=Embryonic tail;
PubMed=14621295; DOI=10.1093/dnares/10.4.167;
Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
Saga Y., Nagase T., Ohara O., Koga H.;
"Prediction of the coding sequences of mouse homologues of KIAA gene:
III. The complete nucleotide sequences of 500 mouse KIAA-homologous
cDNAs identified by screening of terminal sequences of cDNA clones
randomly sampled from size-fractionated libraries.";
DNA Res. 10:167-180(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1932-2430 (ISOFORM 1).
STRAIN=FVB/N-3; TISSUE=Mammary tumor;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
TISSUE SPECIFICITY.
PubMed=17322883; DOI=10.1038/ng1980;
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., Grid D., Tazir M., Fontaine B.,
Filla A., Bertini E., Durr A., Brice A.;
"Mutations in SPG11, encoding spatacsin, are a major cause of spastic
paraplegia with thin corpus callosum.";
Nat. Genet. 39:366-372(2007).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1942 AND SER-1943, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Brain, Kidney, Liver, Lung, Pancreas, Spleen, and Testis;
PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
"A tissue-specific atlas of mouse protein phosphorylation and
expression.";
Cell 143:1174-1189(2010).
[7]
FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL
STAGE.
PubMed=24794856; DOI=10.1093/hmg/ddu200;
Perez-Branguli F., Mishra H.K., Prots I., Havlicek S., Kohl Z.,
Saul D., Rummel C., Dorca-Arevalo J., Regensburger M., Graef D.,
Sock E., Blasi J., Groemer T.W., Schloetzer-Schrehardt U., Winkler J.,
Winner B.;
"Dysfunction of spatacsin leads to axonal pathology in SPG11-linked
hereditary spastic paraplegia.";
Hum. Mol. Genet. 23:4859-4874(2014).
-!- FUNCTION: May play a role in neurite plasticity by maintaining
cytoskeleton stability and regulating synaptic vesicle transport.
{ECO:0000269|PubMed:24794856}.
-!- SUBUNIT: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
{ECO:0000250|UniProtKB:Q96JI7}.
-!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
{ECO:0000269|PubMed:24794856}. Nucleus
{ECO:0000250|UniProtKB:Q96JI7}. Cell projection, axon
{ECO:0000269|PubMed:24794856}. Cell projection, dendrite
{ECO:0000269|PubMed:24794856}. Cell junction, synapse
{ECO:0000269|PubMed:24794856}. Note=Mainly cytoplasmic.
{ECO:0000269|PubMed:24794856}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q3UHA3-1; Sequence=Displayed;
Name=2;
IsoId=Q3UHA3-2; Sequence=VSP_025485, VSP_025486;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Ubiquitously expressed at low level. Expressed
in embryonic and adult cortical projection neurons.
{ECO:0000269|PubMed:17322883, ECO:0000269|PubMed:24794856}.
-!- DEVELOPMENTAL STAGE: Expressed in all brain areas analyzed from
embryonic (E18) and adult mice. {ECO:0000269|PubMed:24794856}.
-!- SEQUENCE CAUTION:
Sequence=AAH19404.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAC30307.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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EMBL; AK039286; BAC30307.1; ALT_INIT; mRNA.
EMBL; AK049236; BAC33628.1; -; mRNA.
EMBL; AK049617; BAC33842.1; -; mRNA.
EMBL; AK083468; BAC38926.1; -; mRNA.
EMBL; AK147500; BAE27954.1; -; mRNA.
EMBL; AL845457; CAM21781.1; -; Genomic_DNA.
EMBL; AK129453; BAC98263.1; -; mRNA.
EMBL; BC019404; AAH19404.1; ALT_INIT; mRNA.
CCDS; CCDS50687.1; -. [Q3UHA3-1]
RefSeq; NP_663506.2; NM_145531.2. [Q3UHA3-1]
UniGene; Mm.222303; -.
IntAct; Q3UHA3; 1.
STRING; 10090.ENSMUSP00000037543; -.
iPTMnet; Q3UHA3; -.
PhosphoSitePlus; Q3UHA3; -.
EPD; Q3UHA3; -.
MaxQB; Q3UHA3; -.
PaxDb; Q3UHA3; -.
PeptideAtlas; Q3UHA3; -.
PRIDE; Q3UHA3; -.
Ensembl; ENSMUST00000036450; ENSMUSP00000037543; ENSMUSG00000033396. [Q3UHA3-1]
GeneID; 214585; -.
KEGG; mmu:214585; -.
UCSC; uc008mac.2; mouse. [Q3UHA3-1]
UCSC; uc008mad.2; mouse. [Q3UHA3-2]
CTD; 80208; -.
MGI; MGI:2444989; Spg11.
eggNOG; KOG1884; Eukaryota.
eggNOG; ENOG410XR4T; LUCA.
GeneTree; ENSGT00390000016791; -.
HOVERGEN; HBG080456; -.
InParanoid; Q3UHA3; -.
KO; K19026; -.
OMA; TCHMEGI; -.
OrthoDB; EOG091G008H; -.
TreeFam; TF325171; -.
ChiTaRS; Spg11; mouse.
PRO; PR:Q3UHA3; -.
Proteomes; UP000000589; Chromosome 2.
Bgee; ENSMUSG00000033396; -.
CleanEx; MM_SPG11; -.
Genevisible; Q3UHA3; MM.
GO; GO:0030424; C:axon; IDA:MGI.
GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
GO; GO:0005737; C:cytoplasm; ISO:MGI.
GO; GO:0031410; C:cytoplasmic vesicle; ISO:MGI.
GO; GO:0005829; C:cytosol; IDA:UniProtKB.
GO; GO:0030425; C:dendrite; IDA:MGI.
GO; GO:0070062; C:extracellular exosome; ISO:MGI.
GO; GO:0005765; C:lysosomal membrane; ISO:MGI.
GO; GO:0005730; C:nucleolus; ISO:MGI.
GO; GO:0005886; C:plasma membrane; ISO:MGI.
GO; GO:0045202; C:synapse; IMP:MGI.
GO; GO:0008088; P:axo-dendritic transport; IMP:MGI.
GO; GO:0048675; P:axon extension; IMP:MGI.
GO; GO:0007409; P:axonogenesis; ISO:MGI.
GO; GO:0007268; P:chemical synaptic transmission; ISS:UniProtKB.
GO; GO:0007040; P:lysosome organization; IMP:MGI.
GO; GO:0090389; P:phagosome-lysosome fusion involved in apoptotic cell clearance; IMP:MGI.
GO; GO:0048167; P:regulation of synaptic plasticity; ISO:MGI.
GO; GO:0048489; P:synaptic vesicle transport; ISS:UniProtKB.
GO; GO:0090659; P:walking behavior; IMP:MGI.
Gene3D; 2.130.10.10; -; 1.
InterPro; IPR028103; Spatacsin.
InterPro; IPR028107; Spatacsin_C_dom.
InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
PANTHER; PTHR13650; PTHR13650; 1.
Pfam; PF14649; Spatacsin_C; 1.
1: Evidence at protein level;
Alternative splicing; Cell junction; Cell projection;
Complete proteome; Cytoplasm; Nucleus; Phosphoprotein;
Reference proteome; Synapse.
CHAIN 1 2430 Spatacsin.
/FTId=PRO_0000287468.
MOD_RES 1942 1942 Phosphoserine.
{ECO:0000244|PubMed:21183079}.
MOD_RES 1943 1943 Phosphoserine.
{ECO:0000244|PubMed:21183079}.
VAR_SEQ 479 496 DDGLSLILFGLTQEEFLN -> GEQAVSDGRTLRRGVTAL
(in isoform 2).
{ECO:0000303|PubMed:16141072}.
/FTId=VSP_025485.
VAR_SEQ 497 2430 Missing (in isoform 2).
{ECO:0000303|PubMed:16141072}.
/FTId=VSP_025486.
CONFLICT 579 579 A -> S (in Ref. 1; BAE27954).
{ECO:0000305}.
CONFLICT 853 853 Q -> K (in Ref. 3; BAC98263).
{ECO:0000305}.
CONFLICT 929 929 N -> H (in Ref. 3; BAC98263).
{ECO:0000305}.
CONFLICT 1426 1426 N -> D (in Ref. 3; BAC98263).
{ECO:0000305}.
CONFLICT 1715 1715 G -> D (in Ref. 3; BAC98263).
{ECO:0000305}.
CONFLICT 2192 2192 D -> G (in Ref. 1; BAE27954).
{ECO:0000305}.
CONFLICT 2266 2266 Y -> C (in Ref. 1; BAE27954).
{ECO:0000305}.
SEQUENCE 2430 AA; 273934 MW; B8D7CD876C1338BD CRC64;
MAAQPGPGSA ASPGCAGAME RVLPMLLVRI PAEETAQLGP RAQLHRELEA LGSLTAAGSL
QVLSLAPGSR GGSSCCLPGP FRQFLWEESQ NSTSRDRPKL LVAREDYELL VYEFDLRDGR
CDAALLHGCC GRTLQKLTED QGVSISFKSL RILSFHNNTS LLLINRCLIL RVVFPGKEPG
VPVLDCLSLP LPAQAADMII DAQLCERFLF VLSTVGLIYI FNTMDGTQVA QVDLALLRED
SEQLEPASVS SFTSLRVSQD LDVLVLVSSA STAVALNLHL YFRQHPGHLL CEGTLEDLPI
EGPPGIDEDD LVNSAHNMKL SKVSFQVDRS WRAQLLSLNE SVRGSEPEVS CCAPWFQSAL
RLESLESADH TPTVPTHVFI PGDVPRGRCA FPQKEHVKSS DPGRPWKTMH LSEHEQPTEL
TCLSVTGFTA LFTWAVGATS CTIGLWDLET QSMQCFSLSQ KCTPVDIGGD QQLCLALTDD
GLSLILFGLT QEEFLNRLMI HGSASTVDSL CHLNGWGRCS IPIHALEAGI ENRQLDTVDF
FLKSKENLLT PSSQSPAPDQ QHPFSSHLYL RQVEEMSPAL DLLCSAIRES DSETQSKHFA
EQLLHLTLSF LNKQIRELCV HTEELDEHFQ KGVAILTSYI NELRTFMIKF PWKPGDAIDE
SDVNEGVVTV KEDRVWEELS FEEVIADAIL NNRIPEAQTF FRISGHSAQR LEELVRIGLD
LAFDSLKKNN VEEASRLLRN MGFSVEDELL KICFYTTDKN IRDFLVEILK EKECFSEKER
RTVDFVHQLE ALYSGHFQEN AQTQAFPRYW IKEQDCFKHK SVLDTFLKYD KKDEFHKQDH
RIALNWAHRW DLQTQECILL RRLSPEEYKA RSPEALWRHL TARHDCSSIS LWMEEFQTQE
TESPQQSKWP PLSADIIEQG TCCHSHMRNE ILDKLARSGI FLASELEDFE RLLLRLSRIG
GVMQDSLPVQ SYKSRAGCDF HSRFILYCLE HGLQHLLYTY LDYYKLSPGN CPFLEKKELH
EAHPWLEFLV QCRQVSSNLT DPKLIFQASL ANAQILIPTN QASVSSMLLE GHTLLALATT
MYAPGGVSQV IQNEDSENCL KKVDPQLLKV ALTPYPKLKA ALFPQYTAPS ILPSDITLYH
LIQSLPPFDP SRLFVWQSAN TLAIGDTGSQ LPHFSSPDLV SKYAVLERLN YAYYLHHGRP
SFAFGTFLVQ ELIKSKTPKQ LIQQVGKEAY TLGLSSFTNP SVGAACVCFL ELLGLSSLKL
RVDLKMANVI LGSKRRDEDA RSSFIRESLA EKLSKLADGD RAATEELLVL LEEGVWDSIE
QQGFSRLSSE SSSQWALVLQ FCMLHDRKLS VSYLRECAKA NDWLQFLVHS QLHNYHPAEV
ESLLQYFSPV LQSHLKLASE KLSSGSISRD DSCLQELQKN KGETSNFFEI LHRCSDESTS
WSWLLAEAVR HRAPILSVLA SCVQGASVVS CLCVWIVTSV EDKVAAEAMG HIQISVEDHH
WSLKDLSIIW RTVLTRRKSH TLIRGFQLFI KDSPLLLIME MYELCMFFKN YEKAKVKLLE
FQKSLETLDT VAARVLPIIP ASWMKDQVCF LLKLMPQQCE TQYELGKLLQ LFVGTEQLFS
DGPDVQKLCL LSQVLKDTPI AISPAVISSY STENFQRECR SILEKLKADG QFAVARRVAE
LAALPVDSLL IEQLTQEMQT LTHTPQWSLK QERLGFWKKC HEIFKKNSIS KRAASSFFSS
QAPEVSEHPA EQGSLEERHL LLTLAGHWLA QEEPVPVEEL EGLEKQIWIC RVAQHTCGGA
EEEAKPSLSQ HKLAAAELSF DSLASELSFS KLAALNTSKY LGLNDLPSKT TCENRLKHKE
QESLNTLIGQ LLDGGCVHEA SRVCQYFRFY SQDLVLVLHC RALASAEATM EDLHSEIRAL
LSSAAQPEDL ESPSVPLRKA HSSSSLDSQS FVMVPPTDEV AQNLHTLISK CLHGKNYCRQ
VLCLYELAKD LGCSYGDVAA RDSEAMLRAI LASQRPDRCR QAQVFINTQG LEADTVAELV
AEEVTRELLT PSEGTGEKQP FNPAEESQTF LQLTALCQDR TLVGMKLLDK IPSVPHGELS
CTTELLILAH HCFTFTCHME GITRVLQAAR MLTDNHLAPN EEYGLVVRLL TGIGRYNEMT
YIFDLLHQKH YFEVLMRKKL DPTGTLKTAL LDYIKRCRPG DSEKHNMIAL CFSMCREIGE
NHEAAACIQL KLIESQPWEE SLKDGAQLKQ LLLKALTLML DAAESYAKDS CVRQALHCNR
LTKLITLQIH FLNSGQNTML INLGHQKLMD CIMTLPRFYQ ASIVAEAYDF VPDWAEVLYQ
QVILKGDFSY LEEFKQQKLL RPNIFEDISK KYKQHQPTDR VTENLKKLLS YCEDIYLYYK
LAYEHKFFEI VNMLLKDPQT GCCLKDMLAG


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