Protein detail

SPTCS

Spatacsin (Colorectal carcinoma-associated protein) (Spastic paraplegia 11 protein)

Entry name SPTCS	UniProt ID Q96JI7	EVMP confidence score 0.38
Supporting publications (n) 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information11

Protein Names

Spatacsin (Colorectal carcinoma-associated protein) (Spastic paraplegia 11 protein)

Protein Class (4)

Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins

Protein Function (4)

Human disease related genes:Nervous system diseases:Neurodegenerative diseases
Disease related genes
Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
Predicted intracellular proteins

Ensembl

ENSG00000104133

Entrez Gene Symbol

SPG11

Gene Synonym (3)

ALS5FLJ21439KIAA1840

Gene Description

SPG11 vesicle trafficking associated, spatacsin

Chromosome

Position

44554818-44663688

Supporting publications (n)

EVMP confidence score

0.38

Function & Pathway6

Protein Function (4)

Human disease related genes:Nervous system diseases:Neurodegenerative diseases
Disease related genes
Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
Predicted intracellular proteins

Cellular Component (10)

Molecular Function (2)

Biological Process (3)

KEGG (3)

Mediation Categories (2)

Fusion and delivery mediationImmune mediation

Relations & Evidence10

Ligand-Receptor Signaling (7)

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
transmembrane	transmembrane	Ramilowski_location	No	No	No	No	No
transmembrane	transmembrane	OmniPath	No	No	No	No	No
transmembrane	transmembrane_predicted	Phobius	No	No	No	No	No

Protein Complex Composition (2)

2 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
AP5-SPG11-SPG15 complex	AP5B1 AP5M1 AP5S1 AP5Z1 SPG11 ZFYVE26	O43299 Q2VPB7 Q68DK2 Q96JI7 Q9H0R1 Q9NUS5	0:0:0:0:0:0	CORUM	CORUM:6602	23825025
	SPG11 ZFYVE26	Q68DK2 Q96JI7	1:1	PDB	PDB:8yad

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Size Exclusion Chromatography	Antibody array	1	34265469

Sequence, Structure & Domains6

Sequences

Length

2,443

Mass

278,868

Sequence

MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAAGSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNLKDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPERDAAIRVLNCFTLPLPAQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLALHKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCERILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCAPWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISEQEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQLCFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENRQLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSEPQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELRTFMIKFPWKLTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFRIDSHSAQKLEELIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKNYFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKDEFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWIGEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECFLLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCPFLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGHTLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMALTPYPKLKTALFPQCTPPSVLPSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNKYAIVERLNFAYYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLELLGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLEEGTWNSIQQQEIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQLHNYHPAEVKSLIQYFSPVIQDHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTDLFEILLQCSEEPDSWHWLLVEAVKQQAPILSVLASCLQGASAISCLCVWIITSVEDNVATEAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCMFFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELGKLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERLQTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKKNSISSKAASSFFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQIWLCRITQHTLGRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSLPSKETCENRLDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASGEASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVLTSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFISTQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKLLDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVVRLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNMIALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYAKDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQASIVAEAYDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPTDMVMENLKKLLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG

Alternative Products

Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96JI7-1; Sequence=Displayed; Name=2; IsoId=Q96JI7-2; Sequence=VSP_025483, VSP_025484; Name=3; IsoId=Q96JI7-3; Sequence=VSP_045347

Alternative Sequence

1956..2069; TSSLDSQKFVTVPSSNEVVTNLEVLTSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFISTQGLKPDTVAELVAEEVTRELLTSSQGTG -> R (in isoform 3); 2070..2079; HKQMFNPTEE -> ALPPGDSQPL (in isoform 2); 2080..2443; Missing (in isoform 2)

3D Structural Models

3D Structure

Electron microscopy (3)

Clinical Relevance2

Disease Involvement (5)

Amyotrophic lateral sclerosisCharcot-Marie-Tooth diseaseHereditary spastic paraplegiaNeurodegenerationNeuropathy

Antibody (2)

HPA040412 HPA040947

Supporting Publications1

PMID	Title	Abstract
38731868	The Deep Proteomics Approach Identified Extracellular Vesicular Proteins Correlated to Extracellular Matrix in Type One and Two Endometrial Cancer.	No abstract available