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Protein

Spartin

Gene

SPART

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

Functioni

May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964).1 Publication

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  • abscission Source: UniProtKB
  • adipose tissue development Source: Ensembl
  • cell division Source: UniProtKB
  • lipid particle organization Source: Ensembl
  • negative regulation of BMP signaling pathway Source: Ensembl
  • negative regulation of collateral sprouting in absence of injury Source: Ensembl
  • neuromuscular process Source: Ensembl
  • regulation of mitochondrial membrane potential Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
SpartinCurated
Alternative name(s):
Spastic paraplegia 20 protein
Trans-activated by hepatitis C virus core protein 1
Gene namesi
Name:SPARTImported
Synonyms:KIAA0610, SPG20Imported, TAHCCP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000133104.12
HGNCiHGNC:18514 SPART
MIMi607111 gene
neXtProtiNX_Q8N0X7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 20, autosomal recessive (SPG20)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:275900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079569330M → V in SPG20; significant decrease in protein expression; significantly reduced COX respiratory chain complex IV activity in muscle mitochondria. 1 Publication1
Natural variantiVAR_079570442A → P in SPG20; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24F → D: Abolishes interaction with IST1. Does not localize to the midbody. 1 Publication1
Mutagenesisi171 – 174PPAY → AAAA: Abolishes interaction with ITCH and WWP1. 1 Publication4

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi23111
GeneReviewsiSPG20
MalaCardsiSPG20
MIMi275900 phenotype
OpenTargetsiENSG00000133104
Orphaneti101000 Autosomal recessive spastic paraplegia type 20
PharmGKBiPA134871645

Polymorphism and mutation databases

BioMutaiSPG20
DMDMi50401600

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000721191 – 666SpartinAdd BLAST666

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Cross-linki362Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei470PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8N0X7
MaxQBiQ8N0X7
PaxDbiQ8N0X7
PeptideAtlasiQ8N0X7
PRIDEiQ8N0X7

PTM databases

iPTMnetiQ8N0X7
PhosphoSitePlusiQ8N0X7
SwissPalmiQ8N0X7

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000133104
CleanExiHS_SPG20
ExpressionAtlasiQ8N0X7 baseline and differential
GenevisibleiQ8N0X7 HS

Organism-specific databases

HPAiHPA039053
HPA039054
HPA061519

Interactioni

Subunit structurei

Interacts with ITCH and WWP1 (PubMed:19580544). Interacts (via MIT domain) with IST1; leading to the recruitment of SPART to midbodies (PubMed:20719964).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EPN2O95208-24EBI-2643803,EBI-12135243

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi11673441 interactors.
IntActiQ8N0X7 34 interactors.
MINTiQ8N0X7
STRINGi9606.ENSP00000347314

Structurei

Secondary structure

1666
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi11 – 35Combined sources25
Helixi39 – 57Combined sources19
Helixi69 – 96Combined sources28

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DL1NMR-A9-111[»]
4U7IX-ray1.79A8-101[»]
ProteinModelPortaliQ8N0X7
SMRiQ8N0X7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N0X7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 94MITAdd BLAST79
Domaini427 – 611SenescenceSequence analysisAdd BLAST185

Phylogenomic databases

eggNOGiKOG2709 Eukaryota
ENOG410ZEPM LUCA
GeneTreeiENSGT00390000012235
HOGENOMiHOG000015747
HOVERGENiHBG079206
InParanoidiQ8N0X7
KOiK19366
OMAiGNKDVRH
OrthoDBiEOG091G06VD
PhylomeDBiQ8N0X7
TreeFamiTF105252

Family and domain databases

InterProiView protein in InterPro
IPR007330 MIT
IPR036181 MIT_dom_sf
IPR009686 Senescence/spartin
PfamiView protein in Pfam
PF06911 Senescence, 1 hit
SMARTiView protein in SMART
SM00745 MIT, 1 hit
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 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAC17479 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69P → T in AAH47083 (PubMed:15489334).Curated1
Sequence conflicti417P → H in AAH47083 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079569330M → V in SPG20; significant decrease in protein expression; significantly reduced COX respiratory chain complex IV activity in muscle mitochondria. 1 Publication1
Natural variantiVAR_079570442A → P in SPG20; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005266313.4
XP_005266371.1, XM_005266314.3
XP_005266372.1, XM_005266315.3
XP_005266374.1, XM_005266317.3
XP_011533314.1, XM_011535012.2
UniGeneiHs.440414

Genome annotation databases

EnsembliENST00000355182; ENSP00000347314; ENSG00000133104
ENST00000438666; ENSP00000406061; ENSG00000133104
ENST00000451493; ENSP00000414147; ENSG00000133104
ENST00000494062; ENSP00000473599; ENSG00000133104
GeneIDi23111
KEGGihsa:23111
UCSCiuc001uvm.4 human

Similar proteinsi

Entry informationi

Entry nameiSPART_HUMAN
AccessioniPrimary (citable) accession number: Q8N0X7
Secondary accession number(s): O60349
, Q86Y67, Q9H1T2, Q9H1T3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 138 of the entry and version 1 of the sequence. See 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