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    Spg21 SPG21, maspardin [ Mus musculus (house mouse) ]

    Gene ID: 27965, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Spg21provided by MGI
    Official Full Name
    SPG21, maspardinprovided by MGI
    Primary source
    MGI:MGI:106403
    See related
    Ensembl:ENSMUSG00000032388 AllianceGenome:MGI:106403
    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
    MAST; ACP33; GL010; BM-019; D9Wsu18e
    Summary
    Predicted to enable CD4 receptor binding activity. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; neuron development; and response to epidermal growth factor. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and trans-Golgi network transport vesicle. Is expressed in extraembryonic component; head mesenchyme; tongue; and vertebral axis musculature. Used to study Mast syndrome. Human ortholog(s) of this gene implicated in Mast syndrome and hereditary spastic paraplegia. Orthologous to human SPG21 (SPG21 abhydrolase domain containing, maspardin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 15.5), limb E14.5 (RPKM 15.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Spg21 in Genome Data Viewer
    Location:
    9 C; 9 35.32 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (65360571..65395753)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (65453289..65488470)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RAS-like, family 12 Neighboring gene solute carrier family 51, beta subunit Neighboring gene STARR-positive B cell enhancer ABC_E6755 Neighboring gene STARR-positive B cell enhancer ABC_E2295 Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene STARR-positive B cell enhancer ABC_E2895 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene STARR-seq mESC enhancer starr_24454 Neighboring gene predicted gene, 17749 Neighboring gene STARR-positive B cell enhancer ABC_E2896 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:65389334-65389517 Neighboring gene STARR-positive B cell enhancer ABC_E2897 Neighboring gene STARR-positive B cell enhancer ABC_E9331 Neighboring gene pleckstrin homology domain containing, family O member 2 Neighboring gene STARR-seq mESC enhancer starr_24458 Neighboring gene STARR-positive B cell enhancer ABC_E892

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons. Davenport A, et al. Neurodegener Dis, 2016. PMID 26978163
    2. Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Soderblom C, et al. Neurogenetics, 2010 Oct. PMID 20661613, Free PMC Article
    3. Cloning of ACP33 as a novel intracellular ligand of CD4. Zeitlmann L, et al. J Biol Chem, 2001 Mar 23. PMID 11113139
    4. On the integration of alcohol-related quantitative trait loci and gene expression analyses. Hitzemann R, et al. Alcohol Clin Exp Res, 2004 Oct. PMID 15597075
    5. Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Ko MS, et al. Hum Mol Genet, 1998 Nov. PMID 9811942

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables CD4 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CD4 receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables CD4 receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within collateral sprouting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within limb development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within locomotory behavior 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 neuron maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to epidermal growth factor IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network transport vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network transport vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    maspardin
    Names
    acid cluster protein 33
    spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog
    spastic paraplegia 21 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_001357813.2 → NP_001344742.1  maspardin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114645
      Consensus CDS
      CCDS23293.1
      UniProtKB/Swiss-Prot
      Q3U658, Q3UDT7, Q8C1Y7, Q9CQC8
      UniProtKB/TrEMBL
      A0A1L1SST5, A2RT57
      Conserved Domains (2) summary
      TIGR01250
      Location:79 → 259
      pro_imino_pep_2; proline-specific peptidase, Bacillus coagulans-type subfamily
      pfam00561
      Location:45 → 165
      Abhydrolase_1; alpha/beta hydrolase fold

    2. NM_001413545.1 → NP_001400474.1  maspardin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114645

    3. NM_001413546.1 → NP_001400475.1  maspardin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC114645

    4. NM_001413547.1 → NP_001400476.1  maspardin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC114645

    5. NM_001413548.1 → NP_001400477.1  maspardin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC114645

    6. NM_001413549.1 → NP_001400478.1  maspardin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC114645

    7. NM_001413550.1 → NP_001400479.1  maspardin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC114645

    8. NM_001413551.1 → NP_001400480.1  maspardin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC114645

    9. NM_138584.3 → NP_613050.1  maspardin isoform 1

      See identical proteins and their annotated locations for NP_613050.1

      Status: VALIDATED

      Source sequence(s)
      AC114645
      Consensus CDS
      CCDS23293.1
      UniProtKB/Swiss-Prot
      Q3U658, Q3UDT7, Q8C1Y7, Q9CQC8
      UniProtKB/TrEMBL
      A0A1L1SST5, A2RT57
      Related
      ENSMUSP00000034955.7, ENSMUST00000034955.8
      Conserved Domains (2) summary
      TIGR01250
      Location:79 → 259
      pro_imino_pep_2; proline-specific peptidase, Bacillus coagulans-type subfamily
      pfam00561
      Location:45 → 165
      Abhydrolase_1; alpha/beta hydrolase fold

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      65360571..65395753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244409.1 → XP_030100269.1  maspardin isoform X1

      UniProtKB/Swiss-Prot
      Q3U658, Q3UDT7, Q8C1Y7, Q9CQC8
      UniProtKB/TrEMBL
      A0A1L1SST5, A2RT57
      Conserved Domains (2) summary
      TIGR01250
      Location:79 → 259
      pro_imino_pep_2; proline-specific peptidase, Bacillus coagulans-type subfamily
      pfam00561
      Location:45 → 165
      Abhydrolase_1; alpha/beta hydrolase fold
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQC8.1 GenPept UniProtKB/Swiss-Prot:Q9CQC8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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