Cell atlas - SPG11 - The Human Protein Atlas

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SPG11

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nucleoli
	Plasma membrane

Human cell
	Cytosol
	Nucleoli
	Plasma Membrane

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GENERAL INFORMATION
Gene name	SPG11
Gene description	Spastic paraplegia 11 (autosomal recessive)
Protein class	Disease related genes Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the plasma membrane & cytosol. In addition localized to the nucleoli.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Plasma membrane (supported), Cytosol (supported)
Additional location	In addition localized to the Nucleoli (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA040412
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the plasma membrane & cytosol. In addition localized to the nucleoli.

Main location

Plasma membrane (supported), Cytosol (supported)

Additional location

Nucleoli (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA040412	A-431	Plasma membrane
	HPA040412	A-431	Cytosol
	HPA040412	U-2 OS	Nucleoli
			Plasma membrane
			Cytosol
	HPA040412	U-251 MG	Plasma membrane
	HPA040412	U-251 MG	Cytosol

GENE INFORMATION
Gene name	SPG11 (HGNC Symbol)
Synonyms	FLJ21439, KIAA1840
Description	Spastic paraplegia 11 (autosomal recessive) (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Chromosome	15
Cytoband	q21.1
Chromosome location (bp)	44562696 - 44663678
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000104133 (version 83.38)
Entrez gene	80208
UniProt	Q96JI7 (UniProt - Evidence at protein level)
neXtProt	NX_Q96JI7
Antibodypedia	SPG11 antibodies

PROTEIN BROWSER

SPG11-001	SPG11-002	SPG11-003	SPG11-004	SPG11-006	SPG11-007	SPG11-010	SPG11-019	SPG11-023

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SPG11-001 ENSP00000261866 ENST00000261866	Q96JI7 [Direct mapping] Spatacsin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0008088 [axon cargo transport] GO:0016021 [integral component of membrane] GO:0030424 [axon] GO:0030425 [dendrite] GO:0031410 [cytoplasmic vesicle] GO:0045202 [synapse] GO:0048675 [axon extension] GO:0070062 [extracellular exosome] Show all	2443 aa 278.9 kDa	No	1
SPG11-002 ENSP00000445278 ENST00000535302	Q96JI7 [Direct mapping] Spatacsin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0031410 [cytoplasmic vesicle] GO:0070062 [extracellular exosome] Show all	2330 aa 266.6 kDa	No	1
SPG11-003 ENSP00000453848 ENST00000559193	H0YN34 [Direct mapping] Spatacsin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] Show all	779 aa 87.3 kDa	No	1
SPG11-004 ENSP00000396110 ENST00000427534	C4B7M2 [Direct mapping] Spatacsin Show all	Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] Show all	2265 aa 258.1 kDa	No	0
SPG11-006 ENSP00000453599 ENST00000558319	Q96JI7 [Direct mapping] Spatacsin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0016021 [integral component of membrane] GO:0031410 [cytoplasmic vesicle] GO:0070062 [extracellular exosome] Show all	2079 aa 236.5 kDa	No	1
SPG11-007 ENSP00000453246 ENST00000559511	H0YLK7 [Direct mapping] Spatacsin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		567 aa 65.5 kDa	No	0
SPG11-010 ENSP00000453490 ENST00000559754	H0YM73 [Direct mapping] Spatacsin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		107 aa 11.9 kDa	No	0
SPG11-019 ENSP00000453314 ENST00000558138	H0YLR8 [Direct mapping] Spatacsin Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		250 aa 28.3 kDa	No	0
SPG11-023 ENSP00000453921 ENST00000558988	H0YN96 [Direct mapping] Spatacsin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		138 aa 15.5 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.