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Protein

Spatacsin

Gene

SPG11

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

Functioni

May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.1 Publication

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000104133.14
HGNCiHGNC:11226 SPG11
MIMi610844 gene
neXtProtiNX_Q96JI7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 11, autosomal recessive (SPG11)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078057412S → L in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs312262723Ensembl.1
Natural variantiVAR_0780581208P → L in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779830116Ensembl.1
Natural variantiVAR_0780591270V → D in SPG11; unknown pathological significance. 1 Publication1
Natural variantiVAR_0584171349F → I in SPG11. 1 Publication1
Natural variantiVAR_0780602298Missing in SPG11; unknown pathological significance. 1 Publication1
Natural variantiVAR_0780612300L → P in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371334506EnsemblClinVar.1
Natural variantiVAR_0780622334A → P in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764647588Ensembl.1
Amyotrophic lateral sclerosis 5, juvenile (ALS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25.
See also OMIM:602099
Charcot-Marie-Tooth disease 2X (CMT2X)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement.
See also OMIM:616668

Keywords - Diseasei

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi80208
GeneReviewsiSPG11
MalaCardsiSPG11
MIMi602099 phenotype
604360 phenotype
616668 phenotype
OpenTargetsiENSG00000104133
Orphaneti466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X
2822 Autosomal recessive spastic paraplegia type 11
300605 Juvenile amyotrophic lateral sclerosis
PharmGKBiPA36058

Polymorphism and mutation databases

BioMutaiSPG11
DMDMi296452946

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002874671 – 2443SpatacsinAdd BLAST2443

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1955PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96JI7
MaxQBiQ96JI7
PaxDbiQ96JI7
PeptideAtlasiQ96JI7
PRIDEiQ96JI7
ProteomicsDBi76968
76969 [Q96JI7-2]

PTM databases

iPTMnetiQ96JI7
PhosphoSitePlusiQ96JI7

Expressioni

Tissue specificityi

Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons.2 Publications

Gene expression databases

BgeeiENSG00000104133 Expressed in 232 organ(s), highest expression level in kidney
ExpressionAtlasiQ96JI7 baseline and differential
GenevisibleiQ96JI7 HS

Organism-specific databases

HPAiHPA040412
HPA040947

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
SERTAD3Q9UJW93EBI-2822128,EBI-748621

Protein-protein interaction databases

BioGridi123177, 8 interactors
CORUMiQ96JI7
IntActiQ96JI7, 6 interactors
MINTiQ96JI7
STRINGi9606.ENSP00000261866

Structurei

3D structure databases

ProteinModelPortaliQ96JI7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG1884 Eukaryota
ENOG410XR4T LUCA
GeneTreeiENSGT00390000016791
HOGENOMiHOG000231835
HOVERGENiHBG080456
InParanoidiQ96JI7
KOiK19026
OMAiAPNEEYG
OrthoDBiEOG091G008H
PhylomeDBiQ96JI7
TreeFamiTF325171

Family and domain databases

InterProiView protein in InterPro
IPR028103 Spatacsin
IPR028107 Spatacsin_C_dom
PANTHERiPTHR13650 PTHR13650, 1 hit
PfamiView protein in Pfam
PF14649 Spatacsin_C, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C4B7M2C4B7M2_HUMAN
Spatacsin
SPG11
2,265Annotation score:
H0YN34H0YN34_HUMAN
Spatacsin
SPG11
779Annotation score:
H0YKY8H0YKY8_HUMAN
Spatacsin
SPG11
99Annotation score:
H0YLK7H0YLK7_HUMAN
Spatacsin
SPG11
567Annotation score:
H0YLR8H0YLR8_HUMAN
Spatacsin
SPG11
250Annotation score:
H0YLK0H0YLK0_HUMAN
Spatacsin
SPG11
102Annotation score:
H0YKC1H0YKC1_HUMAN
Spatacsin
SPG11
131Annotation score:
H0YN96H0YN96_HUMAN
Spatacsin
SPG11
138Annotation score:
H0YM73H0YM73_HUMAN
Spatacsin
SPG11
107Annotation score:
A0A075B718A0A075B718_HUMAN
Spatacsin
SPG11
156Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence AAH24161 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAX54692 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15065 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03600 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1205N → K in CAH10686 (PubMed:17974005).Curated1
Sequence conflicti1674R → G in BAC03600 (PubMed:14702039).Curated1
Sequence conflicti2171E → D in AAI50641 (PubMed:15489334).Curated1
Sequence conflicti2253D → G in AAH94704 (PubMed:15489334).Curated1
Sequence conflicti2378F → L in BAB15065 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032307396Y → C. Corresponds to variant dbSNP:rs3759875EnsemblClinVar.1
Natural variantiVAR_078057412S → L in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs312262723Ensembl.1
Natural variantiVAR_032308463F → S2 PublicationsCorresponds to variant dbSNP:rs3759871EnsemblClinVar.1
Natural variantiVAR_0780581208P → L in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779830116Ensembl.1
Natural variantiVAR_0780591270V → D in SPG11; unknown pathological significance. 1 Publication1
Natural variantiVAR_0584171349F → I in SPG11. 1 Publication1
Natural variantiVAR_0780602298Missing in SPG11; unknown pathological significance. 1 Publication1
Natural variantiVAR_0780612300L → P in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371334506EnsemblClinVar.1
Natural variantiVAR_0780622334A → P in SPG11; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764647588Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0453471956 – 2069TSSLD…SQGTG → R in isoform 3. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_0254832070 – 2079HKQMFNPTEE → ALPPGDSQPL in isoform 2. 1 Publication10
Alternative sequenceiVSP_0254842080 – 2443Missing in isoform 2. 1 PublicationAdd BLAST364

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.4 human [Q96JI7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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.
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

3D structure databases

ProteinModelPortaliQ96JI7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123177, 8 interactors
CORUMiQ96JI7
IntActiQ96JI7, 6 interactors
MINTiQ96JI7
STRINGi9606.ENSP00000261866

PTM databases

iPTMnetiQ96JI7
PhosphoSitePlusiQ96JI7

Polymorphism and mutation databases

BioMutaiSPG11
DMDMi296452946

Proteomic databases

EPDiQ96JI7
MaxQBiQ96JI7
PaxDbiQ96JI7
PeptideAtlasiQ96JI7
PRIDEiQ96JI7
ProteomicsDBi76968
76969 [Q96JI7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261866; ENSP00000261866; ENSG00000104133 [Q96JI7-1]
ENST00000535302; ENSP00000445278; ENSG00000104133 [Q96JI7-3]
ENST00000558319; ENSP00000453599; ENSG00000104133 [Q96JI7-2]
GeneIDi80208
KEGGihsa:80208
UCSCiuc001ztx.4 human [Q96JI7-1]

Organism-specific databases

CTDi80208
DisGeNETi80208
EuPathDBiHostDB:ENSG00000104133.14
GeneCardsiSPG11
GeneReviewsiSPG11
H-InvDBiHIX0012199
HGNCiHGNC:11226 SPG11
HPAiHPA040412
HPA040947
MalaCardsiSPG11
MIMi602099 phenotype
604360 phenotype
610844 gene
616668 phenotype
neXtProtiNX_Q96JI7
OpenTargetsiENSG00000104133
Orphaneti466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X
2822 Autosomal recessive spastic paraplegia type 11
300605 Juvenile amyotrophic lateral sclerosis
PharmGKBiPA36058
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1884 Eukaryota
ENOG410XR4T LUCA
GeneTreeiENSGT00390000016791
HOGENOMiHOG000231835
HOVERGENiHBG080456
InParanoidiQ96JI7
KOiK19026
OMAiAPNEEYG
OrthoDBiEOG091G008H
PhylomeDBiQ96JI7
TreeFamiTF325171

Miscellaneous databases

ChiTaRSiSPG11 human
GeneWikiiSPG11
GenomeRNAii80208
PROiPR:Q96JI7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104133 Expressed in 232 organ(s), highest expression level in kidney
ExpressionAtlasiQ96JI7 baseline and differential
GenevisibleiQ96JI7 HS

Family and domain databases

InterProiView protein in InterPro
IPR028103 Spatacsin
IPR028107 Spatacsin_C_dom
PANTHERiPTHR13650 PTHR13650, 1 hit
PfamiView protein in Pfam
PF14649 Spatacsin_C, 1 hit
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 136 of the entry and version 3 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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