We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
SPG11
HPA
RESOURCES
  • TISSUE
  • BRAIN
  • SINGLE CELL
  • SUBCELLULAR
  • CANCER
  • BLOOD
  • CELL LINE
  • STRUCTURE & INTERACTION
ABOUT
  • INTRODUCTION
  • HISTORY
  • ORGANIZATION
  • PUBLICATIONS
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • ACKNOWLEDGMENTS
  • CONTACT
NEWS
  • NEWS ARTICLES
  • PRESS ROOM
LEARN
  • DICTIONARY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
  • METHODS
  • EDUCATIONAL VIDEOS
DATA
  • DOWNLOADABLE DATA
  • PUBLICATION DATA
  • RELEASE HISTORY
HELP
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • HELP & FAQ
  • PRIVACY STATEMENT
  • LICENCE & CITATION
Fields »
Search result

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • SPG11
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SPG11
Synonyms ALS5, FLJ21439, KIAA1840
Gene descriptioni

Full gene name according to HGNC.

SPG11 vesicle trafficking associated, spatacsin
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 15
Cytoband q21.1
Chromosome location (bp) 44554818 - 44663688
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
Ensembl ENSG00000104133 (version 109)
Entrez gene 80208
HGNC HGNC:11226
UniProt Q96JI7 (UniProt - Evidence at protein level)
neXtProt NX_Q96JI7
GeneCards SPG11
Antibodypedia SPG11 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.... show less
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SPG11-201
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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005765 [lysosomal membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006606 [protein import into nucleus]
GO:0007040 [lysosome organization]
GO:0007268 [chemical synaptic transmission]
GO:0007528 [neuromuscular junction development]
GO:0007613 [memory]
GO:0008088 [axo-dendritic transport]
GO:0019901 [protein kinase binding]
GO:0021957 [corticospinal tract morphogenesis]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031410 [cytoplasmic vesicle]
GO:0033344 [cholesterol efflux]
GO:0042995 [cell projection]
GO:0045202 [synapse]
GO:0048489 [synaptic vesicle transport]
GO:0048675 [axon extension]
GO:0048741 [skeletal muscle fiber development]
GO:0051402 [neuron apoptotic process]
GO:0051668 [localization within membrane]
GO:0061744 [motor behavior]
GO:0090389 [phagosome-lysosome fusion involved in apoptotic cell clearance]
GO:0090659 [walking behavior]
GO:0097049 [motor neuron apoptotic process]
GO:1905037 [autophagosome organization]
GO:2001256 [regulation of store-operated calcium entry]
Show all
2443 aa
278.9 kDa
No 1
SPG11-202
ENSP00000396110
ENST00000427534
C4B7M2
[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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005730 [nucleolus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
Show all
2265 aa
258.1 kDa
No 1
SPG11-203
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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005765 [lysosomal membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0007040 [lysosome organization]
GO:0007268 [chemical synaptic transmission]
GO:0008088 [axo-dendritic transport]
GO:0019901 [protein kinase binding]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031410 [cytoplasmic vesicle]
GO:0042995 [cell projection]
GO:0045202 [synapse]
GO:0048489 [synaptic vesicle transport]
GO:0048675 [axon extension]
GO:1905037 [autophagosome organization]
Show all
2330 aa
266.6 kDa
No 1
SPG11-207
ENSP00000453314
ENST00000558138
H0YLR8
[Direct mapping] Spatacsin
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
340 aa
39.1 kDa
No 0
SPG11-209
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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005765 [lysosomal membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0007040 [lysosome organization]
GO:0007268 [chemical synaptic transmission]
GO:0008088 [axo-dendritic transport]
GO:0019901 [protein kinase binding]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031410 [cytoplasmic vesicle]
GO:0042995 [cell projection]
GO:0045202 [synapse]
GO:0048489 [synaptic vesicle transport]
GO:0048675 [axon extension]
GO:1905037 [autophagosome organization]
Show all
2079 aa
236.5 kDa
No 1
SPG11-214
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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005730 [nucleolus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
Show all
779 aa
87.3 kDa
No 1
SPG11-216
ENSP00000453246
ENST00000559511
H0YLK7
[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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
2284 aa
261.4 kDa
No 1
SPG11-221
ENSP00000507025
ENST00000682065
A0A804HID9
[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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
2395 aa
273.2 kDa
No 1
SPG11-226
ENSP00000507782
ENST00000682669
A0A804HK59
[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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
2376 aa
271.3 kDa
No 1
SPG11-239
ENSP00000508295
ENST00000684235
A0A804HLC5
[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
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
2392 aa
272.9 kDa
No 1

Contact

  • NEWS ARTICLES
  • PRESS ROOM

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS

The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org