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Spg11 SPG11, spatacsin vesicle trafficking associated [ Mus musculus (house mouse) ]

Gene ID: 214585, updated on 6-Jan-2023

Summary

Official Symbol
Spg11provided by MGI
Official Full Name
SPG11, spatacsin vesicle trafficking associatedprovided by MGI
Primary source
MGI:MGI:2444989
See related
Ensembl:ENSMUSG00000033396 AllianceGenome:MGI:2444989
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
A330015I11; 6030465E24Rik; C530005A01Rik
Summary
Acts upstream of or within several processes, including axonogenesis; cholesterol efflux; and motor neuron apoptotic process. Located in several cellular components, including axon; cytosol; and dendrite. Used to study hereditary spastic paraplegia 11. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2X; amyotrophic lateral sclerosis type 5; and hereditary spastic paraplegia 11. Orthologous to human SPG11 (SPG11 vesicle trafficking associated, spatacsin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 7.0), limb E14.5 (RPKM 6.7) and 28 other tissues See more
Orthologs
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Genomic context

See Spg11 in Genome Data Viewer
Location:
2; 2 E5
Exon count:
41
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (121884007..121949915, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (122053526..122119434, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39916 Neighboring gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 Neighboring gene MAGE family member B3 Neighboring gene eukaryotic translation initiation factor 3, subunit J1 Neighboring gene protein associated with topoisomerase II homolog 2 (yeast) Neighboring gene beta-2 microglobulin Neighboring gene tripartite motif-containing 69

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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within autophagosome organization ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in axo-dendritic transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within axo-dendritic transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axo-dendritic transport ISO
Inferred from Sequence Orthology
more info
 
involved_in axon extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within axon extension IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axonogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chemical synaptic transmission ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within corticospinal tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within localization within membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lysosome organization ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within motor behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within motor neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular junction development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phagosome-lysosome fusion involved in apoptotic cell clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of synaptic plasticity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within walking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in synapse ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
spatacsin
Names
spastic paraplegia 11 protein 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_145531.3NP_663506.2  spatacsin

    See identical proteins and their annotated locations for NP_663506.2

    Status: VALIDATED

    Source sequence(s)
    AL845457
    Consensus CDS
    CCDS50687.1
    UniProtKB/Swiss-Prot
    Q3UHA3, Q8VEA5
    Related
    ENSMUSP00000037543.8, ENSMUST00000036450.8
    Conserved Domains (1) summary
    pfam14649
    Location:20822374
    Spatacsin_C; Spatacsin C-terminus

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    121884007..121949915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011239422.3XP_011237724.1  spatacsin isoform X1

    Conserved Domains (1) summary
    pfam14649
    Location:20822183
    Spatacsin_C; Spatacsin C-terminus
  2. XM_011239423.4XP_011237725.1  spatacsin isoform X2

RNA

  1. XR_003951843.2 RNA Sequence

  2. XR_004939461.1 RNA Sequence

  3. XR_374438.5 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172533.1: Suppressed sequence

    Description
    NM_172533.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.