Reviewed,
UniProtKB/Swiss-Prot Q8N0X7 (SPG20_HUMAN)
Last modified
June 16, 2009.
Version 55.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Spartin Alternative name(s): Trans-activated by hepatitis C virus core protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 666 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May be implicated in endosomal trafficking, or microtubule dynamics, or both. Ref.6 |
| Tissue specificity | Ubiquitously expressed, with highest levels of expression detected in adipose tissue. |
| Involvement in 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. Ref.1 |
| Sequence similarities | Contains 1 MIT domain. |
Ontologies
| Keywords | |
|---|---|
| Disease | Hereditary spastic paraplegia Neurodegeneration |
| PTM | Isopeptide bond Phosphoprotein Ubl conjugation |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | cell death Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 666 | 666 | Spartin | PRO_0000072119 | |||||
Regions | |||||||||
| Domain | 16 – 94 | 79 | MIT | ||||||
Amino acid modifications | |||||||||
| Modified residue | 470 | 1 | Phosphoserine Ref.8 | ||||||
| Cross-link | 362 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.7 | |||||||
Experimental info | |||||||||
| Sequence conflict | 69 | 1 | P → T in AAH47083. Ref.5 | ||||||
| Sequence conflict | 417 | 1 | P → H in AAH47083. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia." Patel H., Cross H., Proukakis C., Hershberger R., Bork P., Ciccarelli F.D., Patton M.A., McKusick V.A., Crosby A.H. Nat. Genet. 31:347-348(2002) [PubMed: 12134148] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], INVOLVEMENT IN SPG20. |
| [2] | "Identification of the genomic DNA structure for a gene trans-activated by hepatitis C virus core protein 1." Liu Y., Cheng J., Wang G., Dong J., Li K., Li L., Zhang L. Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [3] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [6] | "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia." Ciccarelli F.D., Proukakis C., Patel H., Cross H., Azam S., Patton M.A., Bork P., Crosby A.H. Genomics 81:437-441(2003) [PubMed: 12676568] [Abstract] Cited for: DOMAIN MIT, PROBABLE FUNCTION. |
| [7] | "Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry." Meierhofer D., Wang X., Huang L., Kaiser P. J. Proteome Res. 7:4566-4576(2008) [PubMed: 18781797] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-362, MASS SPECTROMETRY. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, MASS SPECTROMETRY. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [10] | "Solution structure of the MIT domain from human spartin." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 8-111. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AY123329 mRNA. Translation: AAM76671.1. AY123337 AY123336 Genomic DNA. Translation: AAM76672.1. AY038934 Genomic DNA. Translation: AAK71883.1. AY038359 mRNA. Translation: AAK72374.1. AB011182 mRNA. Translation: BAA25536.1. Different initiation. AL139377 Genomic DNA. Translation: CAC17479.1. Different initiation. BC047083 mRNA. Translation: AAH47083.1. | |||||||||||||
| IPI | IPI00430622. | ||||||||||||
| PIR | T00255. | ||||||||||||
| RefSeq | NP_001135766.1. NP_001135767.1. NP_001135768.1. NP_055902.1. | ||||||||||||
| UniGene | Hs.440414 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q8N0X7. | ||||||||||||
Proteomic databases | |||||||||||||
| PeptideAtlas | Q8N0X7. | ||||||||||||
| PRIDE | Q8N0X7. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000133104. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 23111. | ||||||||||||
| KEGG | hsa:23111. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC13M035773. | ||||||||||||
| HGNC | HGNC:18514. SPG20. | ||||||||||||
| MIM | 275900. phenotype. 607111. gene. | ||||||||||||
| Orphanet | 101000. Autosomal recessive spastic paraplegia, type 20. 685. Familial spastic paraplegia. | ||||||||||||
| PharmGKB | PA134871645. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | Q8N0X7. | ||||||||||||
| HOVERGEN | Q8N0X7. | ||||||||||||
| OMA | Q8N0X7. GLECAAK. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q8N0X7. | ||||||||||||
| Bgee | Q8N0X7. | ||||||||||||
| CleanEx | HS_SPG20. | ||||||||||||
| GermOnline | ENSG00000133104. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR007330. MIT. [Graphical view] | ||||||||||||
| Pfam | PF04212. MIT. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00745. MIT. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 44307. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SPG20_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N0X7 Secondary accession number(s): O60349 Q9H1T3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


