InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPG20

Summary

InnateDB Gene

IDBG-24395.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPG20

Gene Name

spastic paraplegia 20 (Troyer syndrome)

Synonyms

SPARTIN; TAHCCP1

Species

Homo sapiens

Ensembl Gene

ENSG00000133104

Encoded Proteins

IDBP-24397

spastic paraplegia 20 (Troyer syndrome)

IDBP-364951

spastic paraplegia 20 (Troyer syndrome)

IDBP-364953

spastic paraplegia 20 (Troyer syndrome)

IDBP-810748

spastic paraplegia 20 (Troyer syndrome)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:36301638-36370180

Strand

Reverse strand

Band

q13.3

Transcripts

ENST00000355182	ENSP00000347314
ENST00000451493	ENSP00000414147
ENST00000438666	ENSP00000406061
ENST00000494062	ENSP00000473599
ENST00000491805
ENST00000460126
ENST00000475603
ENST00000482146
ENST00000495510
ENST00000494703
ENST00000476377

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0031625	ubiquitin protein ligase binding

Biological Process

GO:0008219	cell death
GO:0009838	abscission
GO:0030514	negative regulation of BMP signaling pathway
GO:0034389	lipid particle organization
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

Cellular Component

GO:0005737	cytoplasm
GO:0005741	mitochondrial outer membrane
GO:0005811	lipid particle
GO:0005886	plasma membrane
GO:0030496	midbody
GO:0045202	synapse

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000036580

View Gene Order

ENSBTAG00000008040

Not yet available

Pathways

NETPATH

NetPath_4

EGFR1 pathway

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

Q8N0X7

TrEMBL

A0A024RDV9

UniProt Splice Variant

Entrez Gene

23111

UniGene

Hs.440414 Hs.595424 Hs.598397 Hs.603172

RefSeq

NM_001142294 NM_001142295 NM_001142296 NM_015087 XM_005266313 XM_005266314 XM_005266315 XM_005266316 XM_005266317

HUGO

HGNC:18514

OMIM

607111

CCDS

CCDS9356

HPRD

IMGT

EMBL

AB011182 AL139377 AY038359 AY038934 AY123329 AY123331 AY123332 AY123333 AY123334 AY123335 AY123336 AY123337 BC047083 CH471075

GenPept

AAH47083 AAK71883 AAK72374 AAM76671 AAM76672 BAA25536 CAC17479 EAX08558 EAX08559 EAX08560 EAX08562

RNA Seq Atlas

23111