Atl1 MGI Mouse Gene Detail - MGI:1921241

Symbol

Atl1
Name

atlastin GTPase 1
Synonyms

AD-FSP, FSP1, SPG3, Spg3a

Feature Type

protein coding gene
IDs

MGI:1921241
NCBI Gene: 73991
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr12:69939879-70010859 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 28.94 cM
Mapping Data

1 experiment

SNPs within 2kb

1496 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921241	protein coding gene	Chr12:69939388-70013191 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019803	protein coding gene	Chr12:69609247-69689783 (+)
A/J	MGP_AJ_G0019761	protein coding gene	Chr12:67020056-67089912 (+)
AKR/J	MGP_AKRJ_G0019737	protein coding gene	Chr12:69022184-69099889 (+)
BALB/cJ	MGP_BALBcJ_G0019741	protein coding gene	Chr12:67481766-67552186 (+)
C3H/HeJ	MGP_C3HHeJ_G0019547	protein coding gene	Chr12:69492383-69572451 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020193	protein coding gene	Chr12:71838326-71916802 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017813	protein coding gene	Chr12:64558381-64627298 (+)
CAST/EiJ	MGP_CASTEiJ_G0019098	protein coding gene	Chr12:64246135-64319920 (+)
CBA/J	MGP_CBAJ_G0019516	protein coding gene	Chr12:74491515-74588150 (+)
DBA/2J	MGP_DBA2J_G0019632	protein coding gene	Chr12:66934151-67005105 (+)
FVB/NJ	MGP_FVBNJ_G0019619	protein coding gene	Chr12:65832629-65902974 (+)
LP/J	MGP_LPJ_G0019704	protein coding gene	Chr12:69576597-69651779 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019658	protein coding gene	Chr12:77808704-77883151 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020228	protein coding gene	Chr12:68504044-68584381 (+)
PWK/PhJ	MGP_PWKPhJ_G0018863	protein coding gene	Chr12:61200443-61274572 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018658	protein coding gene	Chr12:62877309-62954922 (+)
WSB/EiJ	MGP_WSBEiJ_G0019149	protein coding gene	Chr12:69129140-69206552 (+)

Human Ortholog

ATL1, atlastin GTPase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATL1, atlastin GTPase 1
Synonyms

AD-FSP, atlastin1, FSP1, GBP3, HSN1D, SPG3, SPG3A
Links

HGNC:11231

NCBI Gene ID: 51062

neXtProt AC: NX_Q8WXF7

UniProt: Q8WXF7
Chr Location

14q22.1

MGI Vertebrate Homology

Atl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATL1
Gene Tree

Atl1

Diseases

2 with human ATL1 associations

				Human Disease	Mouse Models
				hereditary sensory neuropathy type 1D IDs hereditary sensory neuropathy type 1D DOID:0070156 OMIM:613708
				hereditary spastic paraplegia 3A IDs hereditary spastic paraplegia 3A DOID:0110791 ICD10CM:G11.4 OMIM:182600 ORDO:100984

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

8 phenotypes from 3 alleles in 3 genetic backgrounds
20 phenotypes from multigenic genotypes
11 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

2
Targeted

5
Genomic Mutations

1 involving Atl1
Incidental Mutations

APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis.

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All GO Annotations

38
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

712
Tissues

5
cDNA Data

11
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atl1

ZFIN atl1

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All Sequences

49
RefSeq

2
UniProt

3
CCDS

CCDS36465.1

Ensembl

ENSMUSG00000021066 (Evidence)
NCBI Gene

73991

			Length	Strain/Species	Flank
genomic	73991	NCBI Gene Model \| MGI Sequence Detail	70981	C57BL/6J	± kb
transcript	NM_178628	RefSeq \| MGI Sequence Detail	2818	C57BL/6
polypeptide	Q8BH66	UniProt \| EBI \| MGI Sequence Detail	558	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000004424 atlastin-1

(term hierarchy)
EC

3.6.5.-
InterPro Domains

IPR030386 GB1/RHD3-type guanine nucleotide-binding (G) domain

IPR003191 Guanylate-binding protein/Atlastin, C-terminal

IPR036543 Guanylate-binding protein, C-terminal domain superfamily

IPR015894 Guanylate-binding protein, N-terminal

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q8BH66 1 site, 1 O-linked glycan (1 site)

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All nucleic 13

cDNA 12

Primer pair 1

Microarray probesets 4

Summaries

All 46

Developmental Gene Expression 2

Diseases 1

Gene Ontology 7

Phenotypes 11
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:334532 Zhu PP, et al., Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795

TSS for Atl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113656	Chr12:69939995-69940050 (+)	144 bp
Tssr113657	Chr12:69954508-69954519 (+)	14,635 bp
Tssr113658	Chr12:69954521-69954528 (+)	14,646 bp
Tssr113659	Chr12:69954567-69954582 (+)	14,696 bp
Tssr113660	Chr12:69954591-69954600 (+)	14,717 bp
Tssr113661	Chr12:69954602-69954617 (+)	14,731 bp
Tssr113662	Chr12:69954627-69954637 (+)	14,753 bp
Tssr113663	Chr12:69954656-69954663 (+)	14,781 bp
Tssr113664	Chr12:69954674-69954684 (+)	14,800 bp
Tssr113665	Chr12:69954711-69954714 (+)	14,834 bp
Tssr113667	Chr12:69992916-69992933 (+)	53,046 bp
Tssr113668	Chr12:69992943-69992967 (+)	53,076 bp
Tssr113669	Chr12:70010186-70010214 (+)	70,321 bp
Tssr113670	Chr12:70010226-70010248 (+)	70,358 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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