SPART (spartin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23111
Gene name Gene Name - the full gene name approved by the HGNC.
Spartin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPART
Synonyms (NCBI Gene) Gene synonyms aliases
SPG20, TAHCCP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG20
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(121)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
WWP1 Unknown 19307600
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20719964, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 19580544
GO:0005741 Component Mitochondrial outer membrane IDA 21559443
GO:0005811 Component Lipid droplet IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607111 18514 ENSG00000133104
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Apraxia Apraxia of Phonation rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 28679690
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Specific learning disorder Specific learning disability ClinVar
Show/Hide Text Mining Associations (36)
Associations from Text Mining
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