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Q8N0X7

- SPG20_HUMAN

UniProt

Q8N0X7 - SPG20_HUMAN

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Protein

Spartin

Gene

SPG20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  1. abscission Source: UniProtKB
  2. adipose tissue development Source: Ensembl
  3. cell death Source: UniProtKB-KW
  4. cell division Source: UniProtKB
  5. lipid particle organization Source: Ensembl
  6. negative regulation of BMP signaling pathway Source: Ensembl
  7. negative regulation of collateral sprouting in absence of injury Source: Ensembl
  8. neuromuscular process Source: Ensembl
  9. regulation of mitochondrial membrane potential Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Spartin
Alternative name(s):
Spastic paraplegia 20 protein
Trans-activated by hepatitis C virus core protein 1
Gene namesi
Name:SPG20
Synonyms:KIAA0610, TAHCCP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:18514. SPG20.

Subcellular locationi

Cytoplasm 1 Publication
Note: Transiently associated with endosomes.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. lipid particle Source: Ensembl
  3. midbody Source: UniProtKB
  4. mitochondrial outer membrane Source: MGI
  5. plasma membrane Source: HPA
  6. synapse Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi171 – 1744PPAY → AAAA: Abolishes interaction with ITCH and WWP1. 1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi275900. phenotype.
Orphaneti101000. Autosomal recessive spastic paraplegia type 20.
PharmGKBiPA134871645.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 666666SpartinPRO_0000072119Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine2 Publications
Cross-linki362 – 362Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei470 – 4701Phosphoserine2 Publications

Post-translational modificationi

Ubiquitinated; ubiquitination does not require ITCH and WWP1.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ8N0X7.
PaxDbiQ8N0X7.
PeptideAtlasiQ8N0X7.
PRIDEiQ8N0X7.

PTM databases

PhosphoSiteiQ8N0X7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8N0X7.
CleanExiHS_SPG20.
GenevestigatoriQ8N0X7.

Organism-specific databases

HPAiHPA039053.
HPA039054.

Interactioni

Subunit structurei

Interacts with ITCH and WWP1.1 Publication

Protein-protein interaction databases

BioGridi116734. 29 interactions.
IntActiQ8N0X7. 26 interactions.
MINTiMINT-1190043.
STRINGi9606.ENSP00000347314.

Structurei

Secondary structure

1
666
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi12 – 3625
Helixi39 – 5719
Helixi70 – 9930

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DL1NMR-A9-111[»]
ProteinModelPortaliQ8N0X7.
SMRiQ8N0X7. Positions 7-111.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N0X7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 9479MITAdd
BLAST

Sequence similaritiesi

Contains 1 MIT domain.Curated

Phylogenomic databases

eggNOGiNOG70074.
GeneTreeiENSGT00390000012235.
HOGENOMiHOG000015747.
HOVERGENiHBG079206.
InParanoidiQ8N0X7.
OMAiYKKAFLF.
OrthoDBiEOG7WDN26.
PhylomeDBiQ8N0X7.
TreeFamiTF105252.

Family and domain databases

Gene3Di1.20.58.280. 1 hit.
InterProiIPR007330. MIT.
IPR009686. Senescence/spartin.
[Graphical view]
PfamiPF04212. MIT. 1 hit.
PF06911. Senescence. 1 hit.
[Graphical view]
SMARTiSM00745. MIT. 1 hit.
[Graphical view]
SUPFAMiSSF116846. SSF116846. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8N0X7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEQEPQNGEP AEIKIIREAY KKAFLFVNKG LNTDELGQKE EAKNYYKQGI
60 70 80 90 100
GHLLRGISIS SKESEHTGPG WESARQMQQK MKETLQNVRT RLEILEKGLA
110 120 130 140 150
TSLQNDLQEV PKLYPEFPPK DMCEKLPEPQ SFSSAPQHAE VNGNTSTPSA
160 170 180 190 200
GAVAAPASLS LPSQSCPAEA PPAYTPQAAE GHYTVSYGTD SGEFSSVGEE
210 220 230 240 250
FYRNHSQPPP LETLGLDADE LILIPNGVQI FFVNPAGEVS APSYPGYLRI
260 270 280 290 300
VRFLDNSLDT VLNRPPGFLQ VCDWLYPLVP DRSPVLKCTA GAYMFPDTML
310 320 330 340 350
QAAGCFVGVV LSSELPEDDR ELFEDLLRQM SDLRLQANWN RAEEENEFQI
360 370 380 390 400
PGRTRPSSDQ LKEASGTDVK QLDQGNKDVR HKGKRGKRAK DTSSEEVNLS
410 420 430 440 450
HIVPCEPVPE EKPKELPEWS EKVAHNILSG ASWVSWGLVK GAEITGKAIQ
460 470 480 490 500
KGASKLRERI QPEEKPVEVS PAVTKGLYIA KQATGGAAKV SQFLVDGVCT
510 520 530 540 550
VANCVGKELA PHVKKHGSKL VPESLKKDKD GKSPLDGAMV VAASSVQGFS
560 570 580 590 600
TVWQGLECAA KCIVNNVSAE TVQTVRYKYG YNAGEATHHA VDSAVNVGVT
610 620 630 640 650
AYNINNIGIK AMVKKTATQT GHTLLEDYQI VDNSQRENQE GAANVNVRGE
660
KDEQTKEVKE AKKKDK
Length:666
Mass (Da):72,833
Last modified:October 1, 2002 - v1
Checksum:iCFC8DF65494427CE
GO

Sequence cautioni

The sequence BAA25536.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAC17479.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 691P → T in AAH47083. (PubMed:15489334)Curated
Sequence conflicti417 – 4171P → H in AAH47083. (PubMed:15489334)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY123329 mRNA. Translation: AAM76671.1.
AY123337
, 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.
CCDSiCCDS9356.1.
PIRiT00255.
RefSeqiNP_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.
UniGeneiHs.440414.

Genome annotation databases

EnsembliENST00000355182; ENSP00000347314; ENSG00000133104.
ENST00000438666; ENSP00000406061; ENSG00000133104.
ENST00000451493; ENSP00000414147; ENSG00000133104.
ENST00000494062; ENSP00000473599; ENSG00000133104.
GeneIDi23111.
KEGGihsa:23111.
UCSCiuc001uvm.3. human.

Polymorphism databases

DMDMi50401600.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY123329 mRNA. Translation: AAM76671.1 .
AY123337
, 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 .
CCDSi CCDS9356.1.
PIRi T00255.
RefSeqi NP_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.
UniGenei Hs.440414.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DL1 NMR - A 9-111 [» ]
ProteinModelPortali Q8N0X7.
SMRi Q8N0X7. Positions 7-111.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116734. 29 interactions.
IntActi Q8N0X7. 26 interactions.
MINTi MINT-1190043.
STRINGi 9606.ENSP00000347314.

PTM databases

PhosphoSitei Q8N0X7.

Polymorphism databases

DMDMi 50401600.

Proteomic databases

MaxQBi Q8N0X7.
PaxDbi Q8N0X7.
PeptideAtlasi Q8N0X7.
PRIDEi Q8N0X7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355182 ; ENSP00000347314 ; ENSG00000133104 .
ENST00000438666 ; ENSP00000406061 ; ENSG00000133104 .
ENST00000451493 ; ENSP00000414147 ; ENSG00000133104 .
ENST00000494062 ; ENSP00000473599 ; ENSG00000133104 .
GeneIDi 23111.
KEGGi hsa:23111.
UCSCi uc001uvm.3. human.

Organism-specific databases

CTDi 23111.
GeneCardsi GC13M036875.
GeneReviewsi SPG20.
HGNCi HGNC:18514. SPG20.
HPAi HPA039053.
HPA039054.
MIMi 275900. phenotype.
607111. gene.
neXtProti NX_Q8N0X7.
Orphaneti 101000. Autosomal recessive spastic paraplegia type 20.
PharmGKBi PA134871645.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70074.
GeneTreei ENSGT00390000012235.
HOGENOMi HOG000015747.
HOVERGENi HBG079206.
InParanoidi Q8N0X7.
OMAi YKKAFLF.
OrthoDBi EOG7WDN26.
PhylomeDBi Q8N0X7.
TreeFami TF105252.

Miscellaneous databases

EvolutionaryTracei Q8N0X7.
GeneWikii SPG20.
GenomeRNAii 23111.
NextBioi 44307.
PROi Q8N0X7.
SOURCEi Search...

Gene expression databases

Bgeei Q8N0X7.
CleanExi HS_SPG20.
Genevestigatori Q8N0X7.

Family and domain databases

Gene3Di 1.20.58.280. 1 hit.
InterProi IPR007330. MIT.
IPR009686. Senescence/spartin.
[Graphical view ]
Pfami PF04212. MIT. 1 hit.
PF06911. Senescence. 1 hit.
[Graphical view ]
SMARTi SM00745. MIT. 1 hit.
[Graphical view ]
SUPFAMi SSF116846. SSF116846. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. 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.

Entry informationi

Entry nameiSPG20_HUMAN
AccessioniPrimary (citable) accession number: Q8N0X7
Secondary accession number(s): O60349
, Q86Y67, Q9H1T2, Q9H1T3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3