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Q8N0X7 (SPG20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Spartin
Alternative name(s):
Spastic paraplegia 20 protein
Trans-activated by hepatitis C virus core protein 1
Gene names
Name:SPG20
Synonyms:KIAA0610, TAHCCP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length666 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be implicated in endosomal trafficking, or microtubule dynamics, or both. Ref.6

Subunit structure

Interacts with ITCH and WWP1. Ref.9

Subcellular location

Cytoplasm. Note: Transiently associated with endosomes. Ref.9

Tissue specificity

Ubiquitously expressed, with highest levels of expression detected in adipose tissue.

Post-translational modification

Ubiquitinated; ubiquitination does not require ITCH and WWP1. Ref.9

Involvement in disease

Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]: A form of spastic paraplegia, 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Contains 1 MIT domain.

Sequence caution

The sequence BAA25536.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAC17479.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
   DiseaseHereditary spastic paraplegia
Neurodegeneration
   PTMAcetylation
Isopeptide bond
Phosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processabscission

Inferred from mutant phenotype PubMed 20719964. Source: UniProtKB

adipose tissue development

Inferred from electronic annotation. Source: Ensembl

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

cell division

Inferred from mutant phenotype PubMed 20719964. Source: UniProtKB

lipid particle organization

Inferred from electronic annotation. Source: Ensembl

negative regulation of BMP signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of collateral sprouting in absence of injury

Inferred from electronic annotation. Source: Ensembl

neuromuscular process

Inferred from electronic annotation. Source: Ensembl

regulation of mitochondrial membrane potential

Inferred from mutant phenotype PubMed 21559443. Source: MGI

   Cellular_componentcytoplasm

Inferred from direct assay Ref.9. Source: UniProtKB

lipid particle

Inferred from electronic annotation. Source: Ensembl

midbody

Inferred from direct assay PubMed 20719964. Source: UniProtKB

mitochondrial outer membrane

Inferred from direct assay PubMed 21559443. Source: MGI

plasma membrane

Inferred from direct assay. Source: HPA

synapse

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 20719964. Source: UniProtKB

ubiquitin protein ligase binding

Inferred from physical interaction Ref.9. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 666666Spartin
PRO_0000072119

Regions

Domain16 – 9479MIT

Amino acid modifications

Modified residue11N-acetylmethionine Ref.8 Ref.12
Modified residue4701Phosphoserine Ref.7 Ref.10
Cross-link362Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

Experimental info

Mutagenesis171 – 1744PPAY → AAAA: Abolishes interaction with ITCH and WWP1. Ref.9
Sequence conflict691P → T in AAH47083. Ref.5
Sequence conflict4171P → H in AAH47083. Ref.5

Secondary structure

....... 666
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q8N0X7 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: CFC8DF65494427CE

FASTA66672,833
        10         20         30         40         50         60 
MEQEPQNGEP AEIKIIREAY KKAFLFVNKG LNTDELGQKE EAKNYYKQGI GHLLRGISIS 

        70         80         90        100        110        120 
SKESEHTGPG WESARQMQQK MKETLQNVRT RLEILEKGLA TSLQNDLQEV PKLYPEFPPK 

       130        140        150        160        170        180 
DMCEKLPEPQ SFSSAPQHAE VNGNTSTPSA GAVAAPASLS LPSQSCPAEA PPAYTPQAAE 

       190        200        210        220        230        240 
GHYTVSYGTD SGEFSSVGEE FYRNHSQPPP LETLGLDADE LILIPNGVQI FFVNPAGEVS 

       250        260        270        280        290        300 
APSYPGYLRI VRFLDNSLDT VLNRPPGFLQ VCDWLYPLVP DRSPVLKCTA GAYMFPDTML 

       310        320        330        340        350        360 
QAAGCFVGVV LSSELPEDDR ELFEDLLRQM SDLRLQANWN RAEEENEFQI PGRTRPSSDQ 

       370        380        390        400        410        420 
LKEASGTDVK QLDQGNKDVR HKGKRGKRAK DTSSEEVNLS HIVPCEPVPE EKPKELPEWS 

       430        440        450        460        470        480 
EKVAHNILSG ASWVSWGLVK GAEITGKAIQ KGASKLRERI QPEEKPVEVS PAVTKGLYIA 

       490        500        510        520        530        540 
KQATGGAAKV SQFLVDGVCT VANCVGKELA PHVKKHGSKL VPESLKKDKD GKSPLDGAMV 

       550        560        570        580        590        600 
VAASSVQGFS TVWQGLECAA KCIVNNVSAE TVQTVRYKYG YNAGEATHHA VDSAVNVGVT 

       610        620        630        640        650        660 
AYNINNIGIK AMVKKTATQT GHTLLEDYQI VDNSQRENQE GAANVNVRGE KDEQTKEVKE 


AKKKDK 

« Hide

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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: DOMAIN MIT, PROBABLE FUNCTION.
[7]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5."
Edwards T.L., Clowes V.E., Tsang H.T., Connell J.W., Sanderson C.M., Luzio J.P., Reid E.
Biochem. J. 423:31-39(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, INTERACTION WITH ITCH AND WWP1, MUTAGENESIS OF 171-PRO--TYR-174.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"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

EMBL
GenBank
DDBJ
AY123329 mRNA. Translation: AAM76671.1.
AY123337 expand/collapse EMBL AC list , AY123331, AY123332, AY123333, AY123334, AY123335, 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.
CCDSCCDS9356.1.
PIRT00255.
RefSeqNP_001135766.1. NM_001142294.1.
NP_001135767.1. NM_001142295.1.
NP_001135768.1. NM_001142296.1.
NP_055902.1. NM_015087.4.
XP_005266370.1. XM_005266313.2.
XP_005266371.1. XM_005266314.1.
XP_005266372.1. XM_005266315.1.
XP_005266373.1. XM_005266316.1.
XP_005266374.1. XM_005266317.1.
UniGeneHs.440414.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DL1NMR-A9-111[»]
ProteinModelPortalQ8N0X7.
SMRQ8N0X7. Positions 7-111.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116734. 29 interactions.
IntActQ8N0X7. 26 interactions.
MINTMINT-1190043.
STRING9606.ENSP00000347314.

PTM databases

PhosphoSiteQ8N0X7.

Polymorphism databases

DMDM50401600.

Proteomic databases

MaxQBQ8N0X7.
PaxDbQ8N0X7.
PeptideAtlasQ8N0X7.
PRIDEQ8N0X7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355182; ENSP00000347314; ENSG00000133104.
ENST00000438666; ENSP00000406061; ENSG00000133104.
ENST00000451493; ENSP00000414147; ENSG00000133104.
ENST00000494062; ENSP00000473599; ENSG00000133104.
GeneID23111.
KEGGhsa:23111.
UCSCuc001uvm.3. human.

Organism-specific databases

CTD23111.
GeneCardsGC13M036875.
GeneReviewsSPG20.
HGNCHGNC:18514. SPG20.
HPAHPA039053.
HPA039054.
MIM275900. phenotype.
607111. gene.
neXtProtNX_Q8N0X7.
Orphanet101000. Autosomal recessive spastic paraplegia type 20.
PharmGKBPA134871645.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70074.
HOGENOMHOG000015747.
HOVERGENHBG079206.
InParanoidQ8N0X7.
OMAYKKAFLF.
OrthoDBEOG7WDN26.
PhylomeDBQ8N0X7.
TreeFamTF105252.

Gene expression databases

BgeeQ8N0X7.
CleanExHS_SPG20.
GenevestigatorQ8N0X7.

Family and domain databases

Gene3D1.20.58.280. 1 hit.
InterProIPR007330. MIT.
IPR009686. Senescence/spartin.
[Graphical view]
PfamPF04212. MIT. 1 hit.
PF06911. Senescence. 1 hit.
[Graphical view]
SMARTSM00745. MIT. 1 hit.
[Graphical view]
SUPFAMSSF116846. SSF116846. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ8N0X7.
GeneWikiSPG20.
GenomeRNAi23111.
NextBio44307.
PROQ8N0X7.
SOURCESearch...

Entry information

Entry nameSPG20_HUMAN
AccessionPrimary (citable) accession number: Q8N0X7
Secondary accession number(s): O60349 expand/collapse secondary AC list , Q86Y67, Q9H1T2, Q9H1T3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM