Atad1 MGI Mouse Gene Detail - MGI:1915229 - ATPase family, AAA domain containing 1

Atad1 Gene Detail

Symbol

Atad1
Name

ATPase family, AAA domain containing 1
Synonyms

4921525H23Rik, Thorase

Feature Type

protein coding gene
IDs

MGI:1915229
NCBI Gene: 67979

Sequence Map

Chr19:32672563-32712298 bp, - strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
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Sequence

39736 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 27.55 cM, cytoband C3
Mapping Data

3 experiments

Human Ortholog

ATAD1, ATPase family, AAA domain containing 1

Vertebrate Orthologs

10

Human Ortholog

ATAD1, ATPase family, AAA domain containing 1
Orthology source: HomoloGene, HGNC
Synonyms

AFDC1, FNP001, THORASE
Links

HGNC:25903

NCBI Gene ID: 84896

neXtProt AC: NX_Q8NBU5

UniProt: Q8NBU5
Chr Location

10q23.31; chr10:87751512-87841345 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 5960
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: ATAD1
Gene Tree

Atad1

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Phenotype Summary

11 phenotypes from 2 alleles in 2 genetic backgrounds
9 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

34
Gene trapped

30
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available

Mice homozygous for a knock-out allele exhibit decreased body size, seizure, absent LTD, enhanced LTP, enhanced AMPA-mediated currents, and premature death.

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All GO Annotations

19
GO References

6

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

74
Tissues

12
cDNA Data

15
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN atad1a, atad1b

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Atad1 interacts with 297 markers (Mir7-1, Mir15a, Mir15b, ...) View All

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All Sequences

28
RefSeq

4
UniProt

2
CCDS

CCDS29752.1

Ensembl

ENSMUSG00000013662 (Evidence)
NCBI Gene

67979

			Length	Strain/Species	Flank
genomic	ENSMUSG00000013662	Ensembl Gene Model \| MGI Sequence Detail	39736	C57BL/6J	± kb
transcript	ENSMUST00000070210	Ensembl \| MGI Sequence Detail	2813	Not Applicable
polypeptide	ENSMUSP00000069962	Ensembl \| MGI Sequence Detail	361	Not Applicable

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SNPs within 2kb

433 from dbSNP Build 142

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UniProt

2 Sequences
Protein Ontology

PR:000029293 ATPase family AAA domain-containing protein 1

(term hierarchy)
EC

3.6.1.3
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR003960 ATPase, AAA-type, conserved site

IPR003959 ATPase, AAA-type, core

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 17

cDNA 17

Microarray probesets 5

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MGI:2147704

Summaries

All 35

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 9
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:240526 Hall EA, et al., PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet. 2017 Apr 10;

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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