Atl1 atlastin GTPase 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Atl1provided by RGD
Official Full Name: atlastin GTPase 1provided by RGD
Primary source: RGD:1359232
See related: EnsemblRapid:ENSRNOG00000005063 AllianceGenome:RGD:1359232
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Spg3a
Summary: Enables GTP binding activity and GTPase activity. Involved in axonogenesis. Located in Golgi cis cisterna and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary sensory neuropathy type 1D and hereditary spastic paraplegia 3A. Orthologous to human ATL1 (atlastin GTPase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Brain (RPKM 325.7), Testes (RPKM 47.6) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q24

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (94113149..94210955)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (88377168..88475242)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (92229764..92370428)

Chromosome 6 - NC_086024.1 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these results further supports the role of the atlastin-1 of BMP signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of hereditary spastic paraplegia.
Title: Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
Data suggest that NIPA1 and atlastin-1 are members of a common biochemical pathway that supports axonal maintenance, which may explain in part the characteristic degeneration of long spinal pathways observed in patients with HSP.
Title: The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
Title: SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables GTPase activity	ISO Inferred from Sequence Orthology 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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cis cisterna	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum tubular network	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum tubular network	ISS Inferred from Sequence or Structural Similarity more info
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_001009831.1

EC 3.6.5.-

XP_017449716.1

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.

mRNA and Protein(s)

NM_001009831.2 → NP_001009831.1 atlastin-1

See identical proteins and their annotated locations for NP_001009831.1

Status: PROVISIONAL

Source sequence(s)

AY581896

UniProtKB/Swiss-Prot

Q6PST4

Related

ENSRNOP00000084485.2, ENSRNOT00000116837.2

Conserved Domains (1) summary

pfam02263
Location:43 → 314

GBP; Guanylate-binding protein, N-terminal domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086024.1 Reference GRCr8

Range

94113149..94210955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017594227.3 → XP_017449716.1 atlastin-1 isoform X1

UniProtKB/TrEMBL

A0A8I6GAH6

Related

ENSRNOP00000041993.5, ENSRNOT00000046085.7

Conserved Domains (1) summary

pfam02263
Location:43 → 314

GBP; Guanylate-binding protein, N-terminal domain