SPART
entrez
23111
canonical
uniprot
Q8N0X7
canonical
ensembl
ENSG00000133104
resolver
ensp
ENSP00000347314
resolver
ensp
ENSP00000406061
resolver
ensp
ENSP00000414147
resolver
ensp
ENSP00000473599
resolver
ensp
ENSP00000497209
resolver
ensp
ENSP00000558965
resolver
ensp
ENSP00000558967
resolver
ensp
ENSP00000558968
resolver
ensp
ENSP00000558969
resolver
ensp
ENSP00000558971
resolver
ensp
ENSP00000558972
resolver
ensp
ENSP00000558973
resolver
ensp
ENSP00000558975
resolver
ensp
ENSP00000558976
resolver
ensp
ENSP00000558977
resolver
ensp
ENSP00000558979
resolver
ensp
ENSP00000558980
resolver
ensp
ENSP00000558981
resolver
ensp
ENSP00000558990
resolver
ensp
ENSP00000558991
resolver
ensp
ENSP00000558992
resolver
ensp
ENSP00000558993
resolver
ensp
ENSP00000558994
resolver
ensp
ENSP00000558995
resolver
ensp
ENSP00000558996
resolver
ensp
ENSP00000558997
resolver
ensp
ENSP00000599660
resolver
ensp
ENSP00000599662
resolver
ensp
ENSP00000599664
resolver
ensp
ENSP00000599666
resolver
ensp
ENSP00000599668
resolver
ensp
ENSP00000631111
resolver
ensp
ENSP00000631117
resolver
enst
ENST00000355182
resolver
enst
ENST00000438666
resolver
enst
ENST00000451493
resolver
enst
ENST00000494062
resolver
enst
ENST00000650221
resolver
enst
ENST00000888906
resolver
enst
ENST00000888908
resolver
enst
ENST00000888909
resolver
enst
ENST00000888910
resolver
enst
ENST00000888912
resolver
enst
ENST00000888913
resolver
enst
ENST00000888914
resolver
enst
ENST00000888916
resolver
enst
ENST00000888917
resolver
enst
ENST00000888918
resolver
enst
ENST00000888920
resolver
enst
ENST00000888921
resolver
enst
ENST00000888922
resolver
enst
ENST00000888931
resolver
enst
ENST00000888932
resolver
enst
ENST00000888933
resolver
enst
ENST00000888934
resolver
enst
ENST00000888935
resolver
enst
ENST00000888936
resolver
enst
ENST00000888937
resolver
enst
ENST00000888938
resolver
enst
ENST00000929601
resolver
enst
ENST00000929603
resolver
enst
ENST00000929605
resolver
enst
ENST00000929607
resolver
enst
ENST00000929609
resolver
enst
ENST00000961052
resolver
enst
ENST00000961058
resolver
genesymbol
SPART
resolver
genesymbol
SPG20
resolver
genesymbol_syn
KIAA0610
resolver
genesymbol_syn
SPG20
resolver
genesymbol_syn
TAHCCP1
resolver
hgnc
HGNC:18514
resolver
uniprot
A0A024RDV9
resolver
uniprot
O60349
resolver
uniprot
Q86Y67
resolver
uniprot
Q9H1T2
resolver
uniprot
Q9H1T3
resolver
uniprot_entry
A0A024RDV9_HUMAN
resolver
uniprot_entry
SPART_HUMAN
resolver
uniprot_sec
O60349
resolver
uniprot_sec
Q86Y67
resolver
uniprot_sec
Q9H1T2
resolver
uniprot_sec
Q9H1T3
resolver
amino_acid_sequence
MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISISSKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDADELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWSEKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESLKKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAAKCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVTAYNINNIGIKAMVKKTATQTGHTLLEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:12134148, ECO:0000269|PubMed:27539578, ECO:0000269|PubMed:28875386, ECO:0000269|PubMed:38190532}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lipophagy receptor that plays an important role in lipid droplet (LD) turnover in motor neurons (PubMed:37443287). Localizes to LDs and interacts with components of the autophagy machinery, such as MAP1LC3A/C proteins to deliver LDs to autophagosomes for degradation via lipophagy (PubMed:37443287). Lipid transfer protein required for lipid droplet degradation, including by lipophagy (PubMed:38190532). Can bind and transfer all lipid species found in lipid droplets, from phospholipids to triglycerides and sterol esters but the direction of lipid transfer by spartin and its cargos are unknown (PubMed:38190532). May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964). {ECO:0000269|PubMed:20719964, ECO:0000269|PubMed:37443287, ECO:0000269|PubMed:38190532}.
uniprot
proteins
mass_dalton
72833
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="F->D: Abolishes interaction with IST1. Does not localize to the midbody."; /evidence="ECO:0000269|PubMed:20719964"; MUTAGEN 171..174; /note="PPAY->AAAA: Abolishes interaction with ITCH and WWP1."; /evidence="ECO:0000269|PubMed:19580544"; MUTAGEN 438; /note="L->A: Abolishes localization to lipid droplets; when associated with A-449; A-460; A-479; A-490 and A-501."; /evidence="ECO:0000269|PubMed:37443287"; MUTAGEN 449; /note="I->A: Abolishes localization to lipid droplets; when associated with A-438; A-460; A-479; A-490 and A-501."; /evidence="ECO:0000269|PubMed:37443287"; MUTAGEN 460; /note="I->A: Abolishes localization to lipid droplets; when associated with A-438; A-449; A-479; A-490 and A-501."; /evidence="ECO:0000269|PubMed:37443287"; MUTAGEN 479; /note="I->A: Abolishes localization to lipid droplets; when associated with A-438; A-449; A-460; A-490 and A-501."; /evidence="ECO:0000269|PubMed:37443287"; MUTAGEN 490; /note="V->A: Abolishes localization to lipid droplets; when associated with A-438; A-449; A-460; A-479 and A-501."; /evidence="ECO:0000269|PubMed:37443287"; MUTAGEN 501; /note="V->A: Abolishes localization to lipid droplets; when associated with A-438; A-449; A-460; A-479 and A-490."; /evidence="ECO:0000269|PubMed:37443287
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated; ubiquitination does not require ITCH and WWP1. {ECO:0000269|PubMed:19580544, ECO:0000269|PubMed:37443287}.
uniprot
proteins
pubmed
12134148
uniprot
proteins
pubmed
12676568
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19580544
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20719964
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27539578
uniprot
proteins
pubmed
28875386
uniprot
proteins
pubmed
37443287
uniprot
proteins
pubmed
38190532
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
666
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19580544}. Midbody {ECO:0000269|PubMed:20719964}. Lipid droplet {ECO:0000269|PubMed:37443287, ECO:0000269|PubMed:38190532}. Note=Transiently associated with endosomes (PubMed:19580544). Colocalized with IST1 to the ends of Flemming bodies during cytokinesis (PubMed:20719964). {ECO:0000269|PubMed:19580544, ECO:0000269|PubMed:20719964}.
uniprot
proteins