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

Summary

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, Dec 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

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_000075.7 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?

Study showed that the loss of maspardin attenuates the growth, maturation, and axonal branching of cortical neurons to promote progressive neuronal dysfunction; impairment of sensory motor neurons in SPG21-/- mice; and that SPG21-/- cortical neurons failed to respond to EGF-induced growth and maturation, which is confirmed by the attenuated expression of a subset of EGFR target genes
Title: Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons.
Mast syndrome gene SPG21 in mice has a role in hind limb function and axon branching in cultured cortical neurons
Title: Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.

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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

RH124600 (e-PCR)
- UniSTS:161422

39.MMHAP29FRE12.seq (e-PCR)
- UniSTS:124317

C78576 (e-PCR)
- UniSTS:179913

D9Wsu18e (e-PCR), detects polymorphism
- UniSTS:142819

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)

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
NM_001413545.1 → NP_001400474.1 maspardin isoform 2

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413546.1 → NP_001400475.1 maspardin isoform 3

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413547.1 → NP_001400476.1 maspardin isoform 4

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413548.1 → NP_001400477.1 maspardin isoform 5

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413549.1 → NP_001400478.1 maspardin isoform 5

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413550.1 → NP_001400479.1 maspardin isoform 6

Status: VALIDATED

Source sequence(s)

AC114645
NM_001413551.1 → NP_001400480.1 maspardin isoform 7

Status: VALIDATED

Source sequence(s)

AC114645
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

65360571..65395753

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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