Spart spartin [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Troyer syndrome with Dwarfism was diagnosed in a family caused by SPG20 compound heterozygous mutations.
Title: Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
SPG20, a potential STAT3 target, is frequently methylated in gastric cancer, representing a novel noninvasive biomarker for early detection of this deadly disease.
Title: Methylomics analysis identifies a putative STAT3 target, SPG20, as a noninvasive epigenetic biomarker for early detection of gastric cancer.
Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in SPG20
Title: Three cases of Troyer syndrome in two families of Filipino descent.
findings evidence a positive correlation between SIRT1 and BCL6 expression increase in follicular lymphomas (FL) . SIRT1 methylation decreases in FL and diffuse large-B cell lymphomas (DLBCL)and this parallels the increase of KLF4, DAPK1 and SPG20 methylation
Title: Methylation changes of SIRT1, KLF4, DAPK1 and SPG20 in B-lymphocytes derived from follicular and diffuse large B-cell lymphoma.
spartin, via the ubiquitin-binding region, binds Lys-63-linked ubiquitin chains but does not bind Lys-48-linked ubiquitin chains. spartin's role in DALIS formation depends on key residues within its ubiquitin-binding region.
Title: The role of spartin and its novel ubiquitin binding region in DALIS occurrence.
alsin and spartin may interact each other physically
Title: Are alsin and spartin novel interaction partners?
a role for spartin in lipid droplets maintenance and in the regulation of cytokinesis
Title: Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.
SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis
Title: SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.
Our results suggest that spartin might be involved in endocytosis, vesicle trafficking, or mitogenic activity, and that impairment in one of these processes may underlie the long axonopathy in patients with Troyer syndrome.
Title: The Troyer syndrome (SPG20) protein spartin interacts with Eps15.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI840044 (e-PCR)
- UniSTS:165252

C79168 (e-PCR)
- UniSTS:178836

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

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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)

NM_001144987.1 → NP_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:16 → 95

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:431 → 615

Senescence; Senescence-associated protein
NM_001144988.1 → NP_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:16 → 95

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:374 → 558

Senescence; Senescence-associated protein
NM_144895.2 → NP_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:16 → 95

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:431 → 615

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

55019500..55044753

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252562.2 → XP_030108422.1 spartin isoform X2

UniProtKB/TrEMBL

D3Z3F8

Conserved Domains (2) summary

cd02679
Location:16 → 95

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:374 → 558

Senescence; Senescence-associated protein
XM_006501320.4 → XP_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:16 → 95

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:431 → 615

Senescence; Senescence-associated protein
XM_036163036.1 → XP_036018929.1 spartin isoform X2

UniProtKB/TrEMBL

D3Z3F8

Conserved Domains (2) summary

cd02679
Location:16 → 95

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:374 → 558

Senescence; Senescence-associated protein
XM_036163034.1 → XP_036018927.1 spartin isoform X1

UniProtKB/Swiss-Prot

Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6

UniProtKB/TrEMBL

D3Z3F8, Q3TVW1

Conserved Domains (2) summary

cd02679
Location:16 → 95

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:431 → 615

Senescence; Senescence-associated protein
XM_036163035.1 → XP_036018928.1 spartin isoform X1

UniProtKB/Swiss-Prot

Q6ZQ87, Q8BJD3, Q8BM37, Q8BZ63, Q8R1X6

UniProtKB/TrEMBL

D3Z3F8, Q3TVW1

Conserved Domains (2) summary

cd02679
Location:16 → 95

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:431 → 615

Senescence; Senescence-associated protein