Atl1 atlastin GTPase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atl1provided by MGI
Official Full Name: atlastin GTPase 1provided by MGI
Primary source: MGI:MGI:1921241
See related: Ensembl:ENSMUSG00000021066 AllianceGenome:MGI:1921241
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fsp1; Spg3; Adfsp; Spg3a; 4930435M24Rik
Summary: This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]
Expression: Biased expression in CNS E18 (RPKM 20.0), frontal lobe adult (RPKM 19.8) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C2; 12 28.94 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (69939879..70010859)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (69893105..69964085)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Title: Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Endoplasmic reticulum morphology is markedly disrupted in ATL1, ATL2, and ATL3 knockout cells.
Title: Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology.
VCP (valosin-containing protein), together with its cofactor P47 and the endoplasmic reticulum (ER) morphology regulator ATL1 (Atlastin-1), regulates tubular ER formation
Title: VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation.

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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 (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	ISO Inferred from Sequence Orthology more info
enables GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum organization	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum tubular network membrane organization	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum tubular network membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi cis cisterna	ISO Inferred from Sequence Orthology more info
located_in Golgi cis cisterna	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum tubular network membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum tubular network membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: atlastin-1

Names: spastic paraplegia 3A homolog

NP_848743.1

EC 3.6.5.-

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.