HUMAN:SPTCS

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	SPG11 (synonyms: KIAA1840)
Protein Name(s)	Spatacsin Colorectal carcinoma-associated protein Spastic paraplegia 11 protein
External Links
UniProt	Q96JI7
EMBL	AB058743 AC009996 BC024161 BC067798 BC094704 BC150640 BC153879 AL834168 AK025092 AK091176 AY954502
CCDS	CCDS10112.1 CCDS53939.1
RefSeq	NP_001153699.1 NP_079413.3
UniGene	Hs.656271 Hs.683876
ProteinModelPortal	Q96JI7
BioGrid	123177
IntAct	Q96JI7
PhosphoSite	Q96JI7
DMDM	296452946
MaxQB	Q96JI7
PaxDb	Q96JI7
PRIDE	Q96JI7
Ensembl	ENST00000261866 ENST00000535302 ENST00000558319
GeneID	80208
KEGG	hsa:80208
UCSC	uc001ztx.3
CTD	80208
GeneCards	GC15M044854
GeneReviews	SPG11
H-InvDB	HIX0012199
HGNC	HGNC:11226
HPA	HPA040412 HPA040947
MIM	604360 610844
neXtProt	NX_Q96JI7
Orphanet	2822 300605
PharmGKB	PA36058
eggNOG	NOG245863
GeneTree	ENSGT00390000016791
HOVERGEN	HBG080456
InParanoid	Q96JI7
OMA	HEASRVC
OrthoDB	EOG7B05C5
PhylomeDB	Q96JI7
TreeFam	TF325171
ChiTaRS	SPG11
GeneWiki	SPG11
GenomeRNAi	80208
NextBio	70590
PRO	PR:Q96JI7
Proteomes	UP000005640
Bgee	Q96JI7
ExpressionAtlas	Q96JI7
Genevestigator	Q96JI7
GO	GO:0005737 GO:0031410 GO:0005829 GO:0070062 GO:0016021 GO:0005765 GO:0005730 GO:0005886
InterPro	IPR028103 IPR028107
PANTHER	PTHR13650
Pfam	PF14649

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
part_of	GO:0005829	cytosol	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q3UHA3	C	Seeded From UniProt	complete
part_of	GO:0045202	synapse	PMID:24794856^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0008088	axo-dendritic transport	PMID:24794856^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007268	chemical synaptic transmission	PMID:24794856^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048489	synaptic vesicle transport	PMID:24794856^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:17897319^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	PMID:21545838^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:21545838^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0090659	walking behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	P	Seeded From UniProt	complete
involved_in	GO:0090389	phagosome-lysosome fusion involved in apoptotic cell clearance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	P	Seeded From UniProt	complete
involved_in	GO:0048675	axon extension	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	P	Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	C	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	C	Seeded From UniProt	complete
part_of	GO:0030424	axon	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	C	Seeded From UniProt	complete
involved_in	GO:0008088	axo-dendritic transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	P	Seeded From UniProt	complete
involved_in	GO:0007040	lysosome organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q3UHA3 ensembl:ENSMUSP00000037543	C	Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0091	C	Seeded From UniProt	complete
part_of	GO:0030424	axon	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0279	C	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0283	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Pérez-Brangulí, F et al. (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum. Mol. Genet. 23 4859-74 PubMed GONUTS page
↑ Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page
↑ ^3.0 ^3.1 Murmu, RP et al. (2011) Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol. Cell. Neurosci. 47 191-202 PubMed GONUTS page

[PMID:24794856-1] 1.0 ^1.1 ^1.2 ^1.3 Pérez-Brangulí, F et al. (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum. Mol. Genet. 23 4859-74 PubMed GONUTS page

[PMID:17897319-2] Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page

[PMID:21545838-3] 3.0 ^3.1 Murmu, RP et al. (2011) Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol. Cell. Neurosci. 47 191-202 PubMed GONUTS page

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HUMAN:SPTCS

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