• Gene id: 23111

Gene Summary

• Gene Symbol: SPART   Gene   UCSC   Ensembl
• Aliases: SPG20, TAHCCP1
• Gene name: spartin
• Alternate names: spartin, spastic paraplegia 20 (Troyer syndrome), trans-activated by hepatitis C virus core protein 1,
• Gene location: 13q13.3 (36370179: 36301637)     Exons: 29     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with
• OMIM: 607111

Protein Summary

• Protein general information: Q8N0X7  
  • Name: Spartin (Spastic paraplegia 20 protein) (Trans activated by hepatitis C virus core protein 1)
  • Length: 666  
  • Mass: 72833
  • Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
• Sequence:

  MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISISSKESEHTGPGWESAR
  QMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSA
  GAVAAPASLSLPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDADELILIP
  NGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTML
  QAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQG
  NKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWSEKVAHNILSGASWVSWGLVKGAEITGKAIQ
  KGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESL
  KKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAAKCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVT
  AYNINNIGIKAMVKKTATQTGHTLLEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK

• Structural information:
  • Protein Domains: (16..9-)
    (/note="MIT-)
    (427..61-)
    (/note="Senescence-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR007330  IPR036181  IPR009686  
  • PDB: 2DL1 4U7I
  • PDBsum: 2DL1 4U7I
  • STRING: ENSP00000414147
• Other Databases: GeneCards:  SPART  Malacards:  SPART

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051301	cell division	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060612	adipose tissue development	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0048698	negative regulation of collateral sprouting in absence of injury	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0034389	lipid droplet organization	IEA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0009838	abscission	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881