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

Gene ID: 27965, updated on 11-Apr-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. 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, Apr 2022]
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
  • 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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

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 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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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 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
  

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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