Q96JI7 (SPTCS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Spatacsin

Alternative name(s):
Colorectal carcinoma-associated protein
Spastic paraplegia 11 protein

Gene names

Name:	SPG11
Synonyms:	KIAA1840

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2443 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytosol. 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 autosomal recessive 11 (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.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Hereditary spastic paraplegia Neurodegeneration
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasmic vesicle Inferred from direct assay PubMed 21545838. Source: MGI cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nucleolus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2443	2443	Spatacsin		PRO_0000287467
Regions
	Topological domain	1 – 1237	1237	Extracellular Potential
	Transmembrane	1238 – 1258	21	Helical; Potential
	Topological domain	1259 – 1471	213	Cytoplasmic Potential
	Transmembrane	1472 – 1492	21	Helical; Potential
	Topological domain	1493 – 2443	951	Extracellular Potential
Amino acid modifications
	Glycosylation	612	1	N-linked (GlcNAc...) Potential
	Glycosylation	1046	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1956 – 2069	114	TSSLD…SQGTG → R in isoform 3.		VSP_045347
	Alternative sequence	2070 – 2079	10	HKQMFNPTEE → ALPPGDSQPL in isoform 2.		VSP_025483
	Alternative sequence	2080 – 2443	364	Missing in isoform 2.		VSP_025484
	Natural variant	396	1	Y → C. Corresponds to variant rs3759875 [ dbSNP | Ensembl ].		VAR_032307
	Natural variant	463	1	F → S. Ref.1 Ref.4 Corresponds to variant rs3759871 [ dbSNP | Ensembl ].		VAR_032308
	Natural variant	1349	1	F → I in SPG11. Ref.11		VAR_058417
Experimental info
	Sequence conflict	1205	1	N → K in CAH10686. Ref.5
	Sequence conflict	1674	1	R → G in BAC03600. Ref.6
	Sequence conflict	2171	1	E → D in AAI50641. Ref.4
	Sequence conflict	2253	1	D → G in AAH94704. Ref.4
	Sequence conflict	2378	1	F → L in BAB15065. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 9D00E0BB91931464	FASTA	2,443	278,868
	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
	Isoform 2 [UniParc]. Checksum: 8CAED80B0AD1AA98	FASTA	2,079	236,490
	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 TQGLKPDTVA ELVAEEVTRE LLTSSQGTGA LPPGDSQPL
	Isoform 3 [UniParc]. Checksum: 6EDFD641529206D1	FASTA	2,330	266,643
	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 RRVHSRHKQM FNPTEESQTF LQLTTLCQDR 1990 2000 2010 2020 2030 2040 TLVGMKLLDK ISSVPHGELS CTTELLILAH HCFTLTCHME GIIRVLQAAH MLTDNHLAPS 2050 2060 2070 2080 2090 2100 EEYGLVVRLL TGIGRYNEMT YIFDLLHKKH YFEVLMRKKL DPSGTLKTAL LDYIKRCRPG 2110 2120 2130 2140 2150 2160 DSEKHNMIAL CFSMCREIGE NHEAAARIQL KLIESQPWED SLKDGHQLKQ LLLKALTLML 2170 2180 2190 2200 2210 2220 DAAESYAKDS CVRQAQHCQR LTKLITLQIH FLNTGQNTML INLGRHKLMD CILALPRFYQ 2230 2240 2250 2260 2270 2280 ASIVAEAYDF VPDWAEILYQ QVILKGDFNY LEEFKQQRLL KSSIFEEISK KYKQHQPTDM 2290 2300 2310 2320 2330 VMENLKKLLT YCEDVYLYYK LAYEHKFYEI VNVLLKDPQT GCCLKDMLAG

References

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[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]	"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. , 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. , 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. , 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. , 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

GeneReviews

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.
IPI	IPI00101923. IPI00798078. IPI01009685.
RefSeq	NP_001153699.1. NM_001160227.1. NP_079413.3. NM_025137.3.
UniGene	Hs.656271. Hs.683876.
3D structure databases
ProteinModelPortal	Q96JI7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96JI7. 3 interactions.
PTM databases
PhosphoSite	Q96JI7.
Polymorphism databases
DMDM	296452946.
Proteomic databases
PaxDb	Q96JI7.
PRIDE	Q96JI7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261866; ENSP00000261866; ENSG00000104133. ENST00000535302; ENSP00000445278; ENSG00000104133. ENST00000558319; ENSP00000453599; ENSG00000104133.
GeneID	80208.
KEGG	hsa:80208.
UCSC	uc001ztx.3. human.
Organism-specific databases
CTD	80208.
GeneCards	GC15M044854.
H-InvDB	HIX0012199.
HGNC	HGNC:11226. SPG11.
HPA	HPA040412. HPA040947.
MIM	604360. phenotype. 610844. gene.
neXtProt	NX_Q96JI7.
Orphanet	2822. Autosomal recessive spastic paraplegia type 11.
PharmGKB	PA36058.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG245863.
HOVERGEN	HBG080456.
InParanoid	Q96JI7.
OMA	KKCHENF.
OrthoDB	EOG43R3KS.
PhylomeDB	Q96JI7.
Gene expression databases
ArrayExpress	Q96JI7.
Bgee	Q96JI7.
Genevestigator	Q96JI7.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	SPG11. human.
GenomeRNAi	80208.
NextBio	70590.
SOURCE	Search...

Entry information

Entry name

SPTCS_HUMAN

Accession

Primary (citable) accession number: Q96JI7
Secondary accession number(s): A8KAX9 , 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:	May 1, 2013
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.