SPART (spartin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23111
Gene name Spartin
Gene symbol SPART
Synonyms (NCBI Gene)
SPG20TAHCCP1
Chromosome 13
Chromosome location 13q13.3
Summary 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
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs148833652 T>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
rs200373703 G>A,C,T Pathogenic Missense variant, non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs730882198 ->T Likely-pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs748835312 G>A,C Pathogenic Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs770560051 A>-,AA Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
121
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT510725 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT031237 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT510724 hsa-miR-454-3p PAR-CLIP 20371350
MIRT510723 hsa-miR-4295 PAR-CLIP 20371350
MIRT510722 hsa-miR-3666 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
WWP1 Unknown 19307600
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20719964, 32296183, 32814053, 37443287
GO:0005737 Component Cytoplasm IDA 19580544
GO:0005737 Component Cytoplasm IEA
GO:0005741 Component Mitochondrial outer membrane IDA 21559443
GO:0005811 Component Lipid droplet IDA 37443287, 38190532
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607111 18514 ENSG00000133104
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N0X7
Protein name Spartin (Spastic paraplegia 20 protein) (Trans-activated by hepatitis C virus core protein 1)
Protein 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 autophago
PDB 2DL1 , 4U7I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06911 Senescence 427 → 611 Senescence-associated protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
Sequence 
MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISIS
SKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPK
DMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAE
GHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDADELILIPNGVQIFFVNPAGEVS
APSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTML
QAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQ
LKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWS
EKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIA
KQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESLKKDKDGKSPLDGAMV
VAASSVQGFSTVWQGLECAAKCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVT
AYNINNIGIKAMVKKTATQTGHTLLEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKE
AKKKDK
Sequence length 666
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2137548453, rs775736341, rs200373703 RCV002274398
RCV002273920
RCV002274027
SPART-related disorder Pathogenic; Likely pathogenic rs1060499524, rs748865622 RCV003904801
RCV003404104
Troyer syndrome Pathogenic; Likely pathogenic rs2137335988, rs2137548824, rs2137515973, rs730882198, rs1060499524, rs775736341, rs770560051, rs771101723, rs200373703, rs777288668 RCV003147629
RCV001808022
RCV002251090
RCV001170017
RCV000003621
RCV000003622
RCV002510733
RCV003326706
RCV002227474
RCV001391609
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs118086924 RCV005919312
Cervical cancer Likely benign; Conflicting classifications of pathogenicity rs118086924, rs148833652 RCV005919313
RCV005893604
Gastric cancer Conflicting classifications of pathogenicity rs148833652 RCV005893605
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs148833652 RCV005893603
Show/Hide Text Mining Associations (36)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 21499309, 21777459
Adrenoleukodystrophy Associate 29476661
Alzheimer Disease Associate 36035305
Carcinogenesis Associate 21499309, 35389570
Carcinoma Hepatocellular Associate 31109594, 35627246
Cognition Disorders Associate 20437587, 37433330
Colonic Neoplasms Inhibit 35627246
Colorectal Neoplasms Associate 21499309, 21777459, 24362313, 34957998, 35627246
Colorectal Neoplasms Stimulate 35389570
Developmental Disabilities Associate 32661208, 37433330