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Q8N0X7

- SPG20_HUMAN

UniProt

Q8N0X7 - SPG20_HUMAN

Protein

Spartin

Gene

SPG20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. 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

    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

    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.
    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

    MEQEPQNGEP AEIKIIREAY KKAFLFVNKG LNTDELGQKE EAKNYYKQGI    50
    GHLLRGISIS SKESEHTGPG WESARQMQQK MKETLQNVRT RLEILEKGLA 100
    TSLQNDLQEV PKLYPEFPPK DMCEKLPEPQ SFSSAPQHAE VNGNTSTPSA 150
    GAVAAPASLS LPSQSCPAEA PPAYTPQAAE GHYTVSYGTD SGEFSSVGEE 200
    FYRNHSQPPP LETLGLDADE LILIPNGVQI FFVNPAGEVS APSYPGYLRI 250
    VRFLDNSLDT VLNRPPGFLQ VCDWLYPLVP DRSPVLKCTA GAYMFPDTML 300
    QAAGCFVGVV LSSELPEDDR ELFEDLLRQM SDLRLQANWN RAEEENEFQI 350
    PGRTRPSSDQ LKEASGTDVK QLDQGNKDVR HKGKRGKRAK DTSSEEVNLS 400
    HIVPCEPVPE EKPKELPEWS EKVAHNILSG ASWVSWGLVK GAEITGKAIQ 450
    KGASKLRERI QPEEKPVEVS PAVTKGLYIA KQATGGAAKV SQFLVDGVCT 500
    VANCVGKELA PHVKKHGSKL VPESLKKDKD GKSPLDGAMV VAASSVQGFS 550
    TVWQGLECAA KCIVNNVSAE TVQTVRYKYG YNAGEATHHA VDSAVNVGVT 600
    AYNINNIGIK AMVKKTATQT GHTLLEDYQI VDNSQRENQE GAANVNVRGE 650
    KDEQTKEVKE AKKKDK 666
    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.
    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

    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 1, 2014
    This is version 105 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