spast spastin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: spastprovided by ZNC
Official Full Name: spastinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-2331
See related: Ensembl:ENSDARG00000024933 AllianceGenome:ZFIN:ZDB-GENE-040426-2331
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: spg4; zgc:85952
Summary: Predicted to enable ATP hydrolysis activity; microtubule severing ATPase activity; and tubulin binding activity. Acts upstream of or within several processes, including axonogenesis; positive regulation of cellular component organization; and skeletal muscle fiber development. Predicted to be located in midbody and nuclear membrane. Predicted to be active in microtubule cytoskeleton. Is expressed in brain; fat cell; heart; liver; and muscle. Used to study hereditary spastic paraplegia. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 4. Orthologous to human SPAST (spastin). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (51021276..51038879, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (50377478..50395040, complement)

Chromosome 1 - NC_007112.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The data suggest that defective BMP and neuropilin 1 signalling may contribute to the motor phenotype in a vertebrate model of spastin depletion.
Title: BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation.
The results suggest that the spinal cord motor neuron axon outgrowth of zebrafish is regulated by the interaction between spastin and protrudin.
Title: Role of spastin and protrudin in neurite outgrowth.
Simultaneous knockdown of spastin and katanin caused a more severe phenotype than did individual knockdown of either gene, suggesting that they have different but related functions in supporting axon outgrowth.
Title: Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia.
Reduced spg4 function caused dramatic defects in motor axon outgrowth without affecting the events driving the initial specification of motor neurones.
Title: The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables alpha-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables beta-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule severing ATPase activity	IEA Inferred from Electronic Annotation more info
enables microtubule severing ATPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within axon extension	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within axonogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within central nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytokinetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exit from mitosis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane fission	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule bundle formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule severing	IEA Inferred from Electronic Annotation more info
involved_in microtubule severing	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cytokinesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic spindle disassembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nuclear membrane reassembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein hexamerization	IEA Inferred from Electronic Annotation more info
involved_in protein hexamerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with microtubule cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: spastin

NP_998080.2

EC 5.6.1.1

XP_005155454.1

EC 5.6.1.1

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_212915.2 → NP_998080.2 spastin

Status: VALIDATED

Source sequence(s)

AY304504, CU651563

UniProtKB/Swiss-Prot

Q6JUU0, Q6NW58

Related

ENSDARP00000029675.7, ENSDART00000035150.8

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007112.7 Reference GRCz11 Primary Assembly

Range

51021276..51038879 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005155397.4 → XP_005155454.1 spastin isoform X1

UniProtKB/TrEMBL

A0A8M2B2A7

Conserved Domains (5) summary

smart00382
Location:300 → 436

AAA; ATPases associated with a variety of cellular activities

cd02679
Location:80 → 158

MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...

pfam00004
Location:304 → 432

AAA; ATPase family associated with various cellular activities (AAA)

pfam09336
Location:505 → 538

Vps4_C; Vps4 C terminal oligomerization domain

cl21455
Location:267 → 320

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases