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Aliases for SPART Gene

Aliases for SPART Gene

  • Spartin 2 2 3 3 5
  • Trans-Activated By Hepatitis C Virus Core Protein 1 3 4
  • Spastic Paraplegia 20 (Troyer Syndrome) 2 3
  • TAHCCP1 3 4
  • SPG20 3 4
  • Spastic Paraplegia 20 Protein 4
  • KIAA0610 4

External Ids for SPART Gene

Previous HGNC Symbols for SPART Gene

  • SPG20

Summaries for SPART Gene

Entrez Gene Summary for SPART Gene

  • 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 microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

GeneCards Summary for SPART Gene

SPART (Spartin) is a Protein Coding gene. Diseases associated with SPART include Spastic Paraplegia 20, Autosomal Recessive and Paraplegia. Among its related pathways are Endocytosis and DNA Damage.

UniProtKB/Swiss-Prot for SPART Gene

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

Gene Wiki entry for SPART Gene

Additional gene information for SPART Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPART Gene

Genomics for SPART Gene

GeneHancer (GH) Regulatory Elements for SPART Gene

Promoters and enhancers for SPART Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J036343 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 670.7 +24.6 24616 4.1 HDGF PKNOX1 SMAD1 FOXA2 SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 SPART SPART-AS1 SOHLH2 CCDC169 RFXAP CCDC169-SOHLH2
GH13J036369 Enhancer 0.8 ENCODE dbSUPER 658.2 +0.6 609 1.1 RXRA REST YY1 SP1 JUND POLR2A ATF3 HNF4A SPART CCDC169 SOHLH2 SPART-AS1
GH13J036370 Enhancer 0.5 ENCODE dbSUPER 650.7 -0.1 -99 0.2 POLR2A SPART CCNA1
GH13J036416 Enhancer 1.2 FANTOM5 Ensembl ENCODE 5.5 -47.7 -47738 2 BATF ZEB1 ATF7 ETV6 IKZF2 RUNX3 CREM JUNB CEBPB ELF1 SPART-AS1 SPART CCNA1
GH13J036154 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 3.1 +215.2 215163 1.8 POLR2A SIN3A PRDM4 DCLK1 CCDC169 SOHLH2 SPART
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPART on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPART Gene

Genomic Locations for SPART Gene
chr13:36,301,638-36,370,180
(GRCh38/hg38)
Size:
68,543 bases
Orientation:
Minus strand
chr13:36,875,775-36,944,317
(GRCh37/hg19)
Size:
68,543 bases
Orientation:
Minus strand

Genomic View for SPART Gene

Genes around SPART on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPART Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPART Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPART Gene

Proteins for SPART Gene

  • Protein details for SPART Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0X7-SPART_HUMAN
    Recommended name:
    Spartin
    Protein Accession:
    Q8N0X7
    Secondary Accessions:
    • O60349
    • Q86Y67
    • Q9H1T2
    • Q9H1T3

    Protein attributes for SPART Gene

    Size:
    666 amino acids
    Molecular mass:
    72833 Da
    Quaternary structure:
    • Interacts with ITCH and WWP1 (PubMed:19580544). Interacts (via MIT domain) with IST1; leading to the recruitment of SPART to midbodies (PubMed:20719964).
    SequenceCaution:
    • Sequence=BAA25536.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC17479.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPART Gene

neXtProt entry for SPART Gene

Post-translational modifications for SPART Gene

  • Ubiquitinated; ubiquitination does not require ITCH and WWP1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPART Gene

Domains & Families for SPART Gene

Gene Families for SPART Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SPART Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPART Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPART: view

No data available for UniProtKB/Swiss-Prot for SPART Gene

Function for SPART Gene

Molecular function for SPART Gene

UniProtKB/Swiss-Prot Function:
May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964).

Gene Ontology (GO) - Molecular Function for SPART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20719964
GO:0031625 ubiquitin protein ligase binding IPI 19580544
genes like me logo Genes that share ontologies with SPART: view
genes like me logo Genes that share phenotypes with SPART: view

Human Phenotype Ontology for SPART Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SPART Gene

Localization for SPART Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPART Gene

Cytoplasm. Midbody. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPART gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19580544
GO:0005741 mitochondrial outer membrane IDA 21559443
GO:0005811 lipid droplet IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with SPART: view

Pathways & Interactions for SPART Gene

SuperPathways for SPART Gene

SuperPathway Contained pathways
1 Endocytosis
2 DNA Damage
genes like me logo Genes that share pathways with SPART: view

Pathways by source for SPART Gene

1 KEGG pathway for SPART Gene
1 Cell Signaling Technology pathway for SPART Gene

Gene Ontology (GO) - Biological Process for SPART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009838 abscission IMP 20719964
GO:0030514 negative regulation of BMP signaling pathway IEA --
GO:0034389 lipid particle organization IEA --
GO:0048698 negative regulation of collateral sprouting in absence of injury IEA --
GO:0050905 neuromuscular process IEA --
genes like me logo Genes that share ontologies with SPART: view

No data available for SIGNOR curated interactions for SPART Gene

Drugs & Compounds for SPART Gene

No Compound Related Data Available

Transcripts for SPART Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPART Gene

No ASD Table

Relevant External Links for SPART Gene

GeneLoc Exon Structure for
SPART
ECgene alternative splicing isoforms for
SPART

Expression for SPART Gene

NURSA nuclear receptor signaling pathways regulating expression of SPART Gene:

SPART

mRNA Expression by UniProt/SwissProt for SPART Gene:

Q8N0X7-SPART_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.

Evidence on tissue expression from TISSUES for SPART Gene

  • Nervous system(4.9)
  • Eye(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPART Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • salivary gland
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SPART Gene

Orthologs for SPART Gene

This gene was present in the common ancestor of animals.

Orthologs for SPART Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPG20 34 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPG20 34 33
  • 90.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPG20 34 33
  • 87.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Spg20 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spg20 33
  • 82.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPG20 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPG20 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPG20 34 33
  • 68.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPG20 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spg20 33
  • 65.37 (n)
zebrafish
(Danio rerio)
Actinopterygii spg20b 34
  • 57 (a)
OneToOne
spg20a 33
  • 55.29 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2655 33
fruit fly
(Drosophila melanogaster)
Insecta CG12001 34
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F57B10.9 34 33
  • 43.21 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
Species where no ortholog for SPART was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPART Gene

ENSEMBL:
Gene Tree for SPART (if available)
TreeFam:
Gene Tree for SPART (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPART: view image

Paralogs for SPART Gene

No data available for Paralogs for SPART Gene

Variants for SPART Gene

Sequence variations from dbSNP and Humsavar for SPART Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1054141 likely-benign, Troyer syndrome 36,303,841(-) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1054144 likely-benign, Troyer syndrome 36,303,757(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1054149 uncertain-significance, Troyer syndrome 36,303,914(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1054152 likely-benign, Troyer syndrome 36,303,519(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1060499524 pathogenic, Troyer syndrome 36,329,416(-) TTT/TT coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPART Gene

Variant ID Type Subtype PubMed ID
nsv478516 CNV novel sequence insertion 20440878
esv3631781 CNV loss 21293372

Variation tolerance for SPART Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPART Gene

Human Gene Mutation Database (HGMD)
SPART
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPART

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPART Gene

Disorders for SPART Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPART Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 20, autosomal recessive
  • trs
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
spastic paraplegia 33, autosomal dominant
  • spg33
masa syndrome
  • mental retardation, aphasia, shuffling gait, and adducted thumbs
- elite association - COSMIC cancer census association via MalaCards
Search SPART in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPART_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SPART

genes like me logo Genes that share disorders with SPART: view

No data available for Genatlas for SPART Gene

Publications for SPART Gene

  1. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (PMID: 12134148) Patel H … Crosby AH (Nature genetics 2002) 2 3 4 22 58
  2. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. (PMID: 19580544) Edwards TL … Reid E (The Biochemical journal 2009) 3 4 22 58
  3. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. (PMID: 12676568) Ciccarelli FD … Crosby AH (Genomics 2003) 3 4 22 58
  4. SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. (PMID: 20719964) Renvoisé B … Blackstone C (Molecular biology of the cell 2010) 3 4 58
  5. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. (PMID: 19307600) Eastman SW … Bieniasz PD (The Journal of cell biology 2009) 3 22 58

Products for SPART Gene

Sources for SPART Gene

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