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Spart spartin [ Mus musculus (house mouse) ]

Gene ID: 229285, updated on 9-May-2024

Summary

Official Symbol
Spartprovided by MGI
Official Full Name
spartinprovided by MGI
Primary source
MGI:MGI:2139806
See related
Ensembl:ENSMUSG00000036580 AllianceGenome:MGI:2139806
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Spg20; TAHCCP1; mKIAA0610
Summary
Predicted to enable ubiquitin protein ligase binding activity. Acts upstream of or within several processes, including adipose tissue development; negative regulation of BMP signaling pathway; and negative regulation of collateral sprouting in absence of injury. Located in lipid droplet and synapse. Is expressed in dorsal root ganglion; olfactory epithelium; and trigeminal ganglion. Used to study Troyer syndrome. Human ortholog(s) of this gene implicated in Troyer syndrome. Orthologous to human SPART (spartin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 15.5), CNS E11.5 (RPKM 10.3) and 28 other tissues See more
Orthologs
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Genomic context

See Spart in Genome Data Viewer
Location:
3 C; 3 26.53 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (55019500..55044753)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (55112108..55137332)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31358 Neighboring gene STARR-seq mESC enhancer starr_07690 Neighboring gene RIKEN cDNA 4931419H13 gene Neighboring gene STARR-seq mESC enhancer starr_07692 Neighboring gene cyclin A1 Neighboring gene STARR-seq mESC enhancer starr_07693 Neighboring gene STARR-seq mESC enhancer starr_07694 Neighboring gene coiled-coil domain containing 169 Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (3)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC28621

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in abscission ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within adipose tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell division IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell division ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of collateral sprouting in absence of injury IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of collateral sprouting in absence of injury IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid droplet organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of collateral sprouting in absence of injury IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of collateral sprouting in absence of injury IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of mitochondrial membrane potential ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
spartin
Names
spastic paraplegia 20, spartin (Troyer syndrome) homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001144987.1NP_001138459.1  spartin isoform a

    See identical proteins and their annotated locations for NP_001138459.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC127334, AK129171, AK147760, AK159951, BU755937
    Consensus CDS
    CCDS38432.1
    UniProtKB/Swiss-Prot
    Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6
    UniProtKB/TrEMBL
    D3Z3F8, Q3TVW1
    Related
    ENSMUSP00000113621.2, ENSMUST00000118118.8
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:431615
    Senescence; Senescence-associated protein
  2. NM_001144988.1NP_001138460.1  spartin isoform b

    See identical proteins and their annotated locations for NP_001138460.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AC111132, AK129171, AK159951, BU755937
    Consensus CDS
    CCDS50908.1
    UniProtKB/TrEMBL
    D3Z3F8
    Related
    ENSMUSP00000103605.3, ENSMUST00000107971.9
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:374558
    Senescence; Senescence-associated protein
  3. NM_144895.2NP_659144.1  spartin isoform a

    See identical proteins and their annotated locations for NP_659144.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK129171, AK159951, BU755937
    Consensus CDS
    CCDS38432.1
    UniProtKB/Swiss-Prot
    Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6
    UniProtKB/TrEMBL
    D3Z3F8, Q3TVW1
    Related
    ENSMUSP00000042367.8, ENSMUST00000044116.14
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:431615
    Senescence; Senescence-associated protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    55019500..55044753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030252562.2XP_030108422.1  spartin isoform X2

    UniProtKB/TrEMBL
    D3Z3F8
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:374558
    Senescence; Senescence-associated protein
  2. XM_006501320.4XP_006501383.1  spartin isoform X1

    See identical proteins and their annotated locations for XP_006501383.1

    UniProtKB/Swiss-Prot
    Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6
    UniProtKB/TrEMBL
    D3Z3F8, Q3TVW1
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:431615
    Senescence; Senescence-associated protein
  3. XM_036163036.1XP_036018929.1  spartin isoform X2

    UniProtKB/TrEMBL
    D3Z3F8
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:374558
    Senescence; Senescence-associated protein
  4. XM_036163034.1XP_036018927.1  spartin isoform X1

    UniProtKB/Swiss-Prot
    Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6
    UniProtKB/TrEMBL
    D3Z3F8, Q3TVW1
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:431615
    Senescence; Senescence-associated protein
  5. XM_036163035.1XP_036018928.1  spartin isoform X1

    UniProtKB/Swiss-Prot
    Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6
    UniProtKB/TrEMBL
    D3Z3F8, Q3TVW1
    Conserved Domains (2) summary
    cd02679
    Location:1695
    MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    pfam06911
    Location:431615
    Senescence; Senescence-associated protein