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Entry version 141 (16 Oct 2019)
Sequence version 3 (18 May 2010)
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Protein

Spatacsin

Gene

SPG11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Spatacsin
Alternative name(s):
Colorectal carcinoma-associated protein
Spastic paraplegia 11 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SPG11
Synonyms:KIAA1840
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11226 SPG11

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610844 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96JI7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

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DisGeNETi
80208

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SPG11

MalaCards human disease database

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MalaCardsi
SPG11
MIMi602099 phenotype
604360 phenotype
616668 phenotype

Open Targets

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OpenTargetsi
ENSG00000104133

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X
2822 Autosomal recessive spastic paraplegia type 11
300605 Juvenile amyotrophic lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36058

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96JI7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SPG11

Domain mapping of disease mutations (DMDM)

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DMDMi
296452946

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002874671 – 2443SpatacsinAdd BLAST2443

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1955PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96JI7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96JI7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96JI7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96JI7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96JI7

PeptideAtlas

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PeptideAtlasi
Q96JI7

PRoteomics IDEntifications database

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PRIDEi
Q96JI7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
26327
76968 [Q96JI7-1]
76969 [Q96JI7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96JI7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96JI7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104133 Expressed in 232 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96JI7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96JI7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040412
HPA040947

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123177, 10 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96JI7

Protein interaction database and analysis system

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IntActi
Q96JI7, 9 interactors

Molecular INTeraction database

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MINTi
Q96JI7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261866

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1884 Eukaryota
ENOG410XR4T LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016791

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231835

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96JI7

KEGG Orthology (KO)

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KOi
K19026

Identification of Orthologs from Complete Genome Data

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OMAi
KWPPLTV

Database of Orthologous Groups

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OrthoDBi
6211at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96JI7

TreeFam database of animal gene trees

More...
TreeFami
TF325171

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028103 Spatacsin
IPR028107 Spatacsin_C_dom

The PANTHER Classification System

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PANTHERi
PTHR13650 PTHR13650, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14649 Spatacsin_C, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YN34H0YN34_HUMAN
Spatacsin
SPG11
779Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKY8H0YKY8_HUMAN
Spatacsin
SPG11
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLK7H0YLK7_HUMAN
Spatacsin
SPG11
567Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLK0H0YLK0_HUMAN
Spatacsin
SPG11
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLR8H0YLR8_HUMAN
Spatacsin
SPG11
250Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKC1H0YKC1_HUMAN
Spatacsin
SPG11
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YM73H0YM73_HUMAN
Spatacsin
SPG11
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YN96H0YN96_HUMAN
Spatacsin
SPG11
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A075B718A0A075B718_HUMAN
Spatacsin
SPG11
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH24161 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAX54692 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15065 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAC03600 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10112.1 [Q96JI7-1]
CCDS53939.1 [Q96JI7-3]

NCBI Reference Sequences

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RefSeqi
NP_001153699.1, NM_001160227.1 [Q96JI7-3]
NP_079413.3, NM_025137.3 [Q96JI7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261866; ENSP00000261866; ENSG00000104133 [Q96JI7-1]
ENST00000535302; ENSP00000445278; ENSG00000104133 [Q96JI7-3]
ENST00000558319; ENSP00000453599; ENSG00000104133 [Q96JI7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80208

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80208

UCSC genome browser

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UCSCi
uc001ztx.4 human [Q96JI7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi123177, 10 interactors
CORUMiQ96JI7
IntActiQ96JI7, 9 interactors
MINTiQ96JI7
STRINGi9606.ENSP00000261866

PTM databases

iPTMnetiQ96JI7
PhosphoSitePlusiQ96JI7

Polymorphism and mutation databases

BioMutaiSPG11
DMDMi296452946

Proteomic databases

EPDiQ96JI7
jPOSTiQ96JI7
MassIVEiQ96JI7
MaxQBiQ96JI7
PaxDbiQ96JI7
PeptideAtlasiQ96JI7
PRIDEiQ96JI7
ProteomicsDBi26327
76968 [Q96JI7-1]
76969 [Q96JI7-2]

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

Comparative Toxicogenomics Database

More...
CTDi
80208
DisGeNETi80208

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SPG11
GeneReviewsiSPG11
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

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1884 Eukaryota
ENOG410XR4T LUCA
GeneTreeiENSGT00390000016791
HOGENOMiHOG000231835
InParanoidiQ96JI7
KOiK19026
OMAiKWPPLTV
OrthoDBi6211at2759
PhylomeDBiQ96JI7
TreeFamiTF325171

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SPG11 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SPG11

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
80208
PharosiQ96JI7

Protein Ontology

More...
PROi
PR:Q96JI7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPTCS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96JI7
Secondary accession number(s): A8KAX9
, B9EK60, F5H3N6, Q4VC11, Q58G86, Q69YG6, Q6NW01, Q8N270, Q8TBU9, Q9H734
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 141 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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