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

    Gene ID: 27965, updated on 14-Aug-2019

    Summary

    Official Symbol
    Spg21provided by MGI
    Official Full Name
    SPG21, maspardinprovided by MGI
    Primary source
    MGI:MGI:106403
    See related
    Ensembl:ENSMUSG00000032388
    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; C78576; D9Wsu18e
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 15.5), limb E14.5 (RPKM 15.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Spg21 in Genome Data Viewer
    Location:
    9 C; 9 35.32 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (65453289..65488470)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (65308744..65336277)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene RAS-like, family 12 Neighboring gene solute carrier family 51, beta subunit Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene uncharacterized LOC115487226 Neighboring gene pleckstrin homology domain containing, family O member 2 Neighboring gene PIF1 5'-to-3' DNA helicase

    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)
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    CD4 receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network transport vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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)

    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_001357813.1NP_001344742.1  maspardin

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC114645
      Conserved Domains (1) summary
      cl26327
      Location:45147
      Abhydrolase_1; alpha/beta hydrolase fold
    2. NM_138584.2NP_613050.1  maspardin

      See identical proteins and their annotated locations for NP_613050.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK149930, AK150215
      Consensus CDS
      CCDS23293.1
      UniProtKB/Swiss-Prot
      Q9CQC8
      UniProtKB/TrEMBL
      A2RT57
      Related
      ENSMUSP00000034955.6, ENSMUST00000034955.7
      Conserved Domains (1) summary
      cl26327
      Location:45147
      Abhydrolase_1; alpha/beta hydrolase fold

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCm38.p6 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p6 C57BL/6J

      Range
      65453289..65488470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244409.1XP_030100269.1  maspardin isoform X1

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