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SPG20

GENERAL INFORMATION

Gene name

 SPG20

Gene description

 Spastic paraplegia 20 (Troyer syndrome)

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA039053 , HPA039054
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SPG20 (HGNC Symbol)

Synonyms

 KIAA0610, TAHCCP1

Description

 Spastic paraplegia 20 (Troyer syndrome) (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

Chromosome

 13

Cytoband

 q13.3

Chromosome location (bp)

 36301638 - 36370180

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000133104 (version 83.38)

Entrez gene

 23111

UniProt

 Q8N0X7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8N0X7

Antibodypedia

 SPG20 antibodies

PROTEIN BROWSER
SPG20-002
SPG20-010
SPG20-201
SPG20-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SPG20-002
ENSP00000406061
ENST00000438666
Q8N0X7 [Direct mapping]
Spartin
A0A024RDV9 [Target identity:100%; Query identity:100%]
Spastic paraplegia 20, spartin (Troyer syndrome), isoform CRA_a
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005886 [plasma membrane]
GO:0009838 [abscission]
GO:0030496 [midbody]
GO:0031625 [ubiquitin protein ligase binding]
GO:0051301 [cell division]
GO:0051881 [regulation of mitochondrial membrane potential]
Show all
 666 aa
72.8 kDa 		No 0
SPG20-010
ENSP00000473599
ENST00000494062
Q8N0X7 [Direct mapping]
Spartin
A0A024RDV9 [Target identity:100%; Query identity:100%]
Spastic paraplegia 20, spartin (Troyer syndrome), isoform CRA_a
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005886 [plasma membrane]
GO:0009838 [abscission]
GO:0030496 [midbody]
GO:0031625 [ubiquitin protein ligase binding]
GO:0051301 [cell division]
GO:0051881 [regulation of mitochondrial membrane potential]
Show all
 666 aa
72.8 kDa 		No 0
SPG20-201
ENSP00000347314
ENST00000355182
Q8N0X7 [Direct mapping]
Spartin
A0A024RDV9 [Target identity:100%; Query identity:100%]
Spastic paraplegia 20, spartin (Troyer syndrome), isoform CRA_a
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005886 [plasma membrane]
GO:0009838 [abscission]
GO:0030496 [midbody]
GO:0031625 [ubiquitin protein ligase binding]
GO:0051301 [cell division]
GO:0051881 [regulation of mitochondrial membrane potential]
Show all
 666 aa
72.8 kDa 		No 0
SPG20-202
ENSP00000414147
ENST00000451493
Q8N0X7 [Direct mapping]
Spartin
A0A024RDV9 [Target identity:100%; Query identity:100%]
Spastic paraplegia 20, spartin (Troyer syndrome), isoform CRA_a
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005811 [lipid particle]
GO:0005886 [plasma membrane]
GO:0009838 [abscission]
GO:0030496 [midbody]
GO:0030514 [negative regulation of BMP signaling pathway]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034389 [lipid particle organization]
GO:0045202 [synapse]
GO:0048698 [negative regulation of collateral sprouting in absence of injury]
GO:0050905 [neuromuscular process]
GO:0051301 [cell division]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0060612 [adipose tissue development]
Show all
 666 aa
72.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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