SPG11

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA040412 , HPA040947
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

80208

UniProt

Q96JI7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96JI7

Antibodypedia

SPG11 antibodies


PROTEIN BROWSER

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ENST00000261866
 
ENST00000427534
 
ENST00000535302
 
ENST00000558138
 
ENST00000558319
 
ENST00000558988
 
ENST00000559193
 
ENST00000559511
 
ENST00000559754
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPG11-001 ENSP00000261866
ENST00000261866
Q96JI7
Show all »
Show » Show » 2443 278.9 No 1
SPG11-002 ENSP00000445278
ENST00000535302
Q96JI7
Show all »
Show » Show » 2330 266.6 No 1
SPG11-003 ENSP00000453848
ENST00000559193
H0YN34
Show all »
Show » Show » 779 87.3 No 1
SPG11-004 ENSP00000396110
ENST00000427534
C4B7M2
Show all »
Show » Show » 2265 258.1 No 0
SPG11-006 ENSP00000453599
ENST00000558319
Q96JI7
Show all »
Show » Show » 2079 236.5 No 1
SPG11-007 ENSP00000453246
ENST00000559511
Show » 567 65.5 No 0
SPG11-010 ENSP00000453490
ENST00000559754
Show » 107 11.9 No 0
SPG11-019 ENSP00000453314
ENST00000558138
H0YLR8
Show all »
Show » 250 28.3 No 0
SPG11-023 ENSP00000453921
ENST00000558988
H0YN96
Show all »
Show » 138 15.5 No 0