| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May be implicated in endosomal trafficking, or microtubule dynamics, or both. SUBUNIT: Interacts with ITCH and WWP1. SUBCELLULAR LOCATION: Cytoplasm. Note=Transiently associated with endosomes. TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels of expression detected in adipose tissue. PTM: Ubiquitinated; ubiquitination does not require ITCH and WWP1. DISEASE: Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:275900]; also known as Troyer syndrome (TRS). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. SIMILARITY: Contains 1 MIT domain. SEQUENCE CAUTION: Sequence=BAA25536.1; Type=Erroneous initiation; Sequence=CAC17479.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG20"; GENE SYNONYMS:SPG20 KIAA0610 TAHCCP1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 666 AA; 72833 MW; CFC8DF65494427CE CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:18514,
urn:biopax:RelationshipXref:NCBI GENE_23111,
urn:biopax:RelationshipXref:REFSEQ_NP_001135766,
urn:biopax:RelationshipXref:REFSEQ_NP_001135767,
urn:biopax:RelationshipXref:REFSEQ_NP_001135768,
urn:biopax:RelationshipXref:REFSEQ_NP_055902,
urn:biopax:UnificationXref:UNIPROT_O60349,
urn:biopax:UnificationXref:UNIPROT_Q86Y67,
urn:biopax:UnificationXref:UNIPROT_Q8N0X7,
urn:biopax:UnificationXref:UNIPROT_Q9H1T2,
urn:biopax:UnificationXref:UNIPROT_Q9H1T3
|
| biopax3:displayName |
SPG20_HUMAN
|
| biopax3:name |
SPG20,
Spastic paraplegia 20 protein,
Trans-activated by hepatitis C virus core protein 1
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISISSKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDADELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWSEKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESLKKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAAKCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVTAYNINNIGIKAMVKKTATQTGHTLLEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK
|
| biopax3:standardName |
Spartin
|