Tor3a MGI Mouse Gene Detail - MGI:1353652 - torsin family 3, member A

Symbol

Tor3a
Name

torsin family 3, member A
Synonyms

Adir

Feature Type

protein coding gene
IDs

MGI:1353652
NCBI Gene: 30935
Alliance

genome feature page
Transcription Start Sites

14 TSS

Sequence Map

Chr1:156481187-156501909 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 67.71 cM
Mapping Data

1 experiment

SNPs within 2kb

684 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353652	protein coding gene	Chr1:156481187-156501926 (-)
129S1/SvImJ	ENSMUSG00200006076	protein coding gene	Chr1:153927129-153947857 (-)
A/J	ENSMUSG00195022570	protein coding gene	Chr1:153308064-153328242 (-)
AKR/J	ENSMUSG00220005742	protein coding gene	Chr1:153100154-153120314 (-)
BALB/cJ	ENSMUSG00180033575	protein coding gene	Chr1:153526054-153546208 (-)
C3H/HeJ	ENSMUSG00175035485	protein coding gene	Chr1:153572074-153592223 (-)
C57BL/6NJ	ENSMUSG00215037731	protein coding gene	Chr1:153467386-153488126 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014738	protein coding gene	Chr1:147323518-147344935 (-)
CAST/EiJ	ENSTCUG00005005404	protein coding gene	Chr1:152120406-152140915 (-)
CBA/J	ENSMUSG00210020862	protein coding gene	Chr1:153468451-153488600 (-)
DBA/2J	ENSMUSG00185042846	protein coding gene	Chr1:157746127-157766271 (-)
FVB/NJ	ENSMUSG00205009242	protein coding gene	Chr1:152602263-152622436 (-)
JF1/MsJ	ENSUMUG00000008050	protein coding gene	Chr1:156897207-156917375 (-)
LP/J	ENSMUSG00230016846	protein coding gene	Chr1:157312048-157332779 (-)
NOD/ShiLtJ	ENSMUSG00190029395	protein coding gene	Chr1:153318017-153338749 (-)
NZO/HlLtJ	ENSMUSG00225006060	protein coding gene	Chr1:160980013-161000745 (-)
PWK/PhJ	ENSLUMG00010029047	protein coding gene	Chr1:152262705-152282894 (-)
SPRET/EiJ	ENSMSPG00010036650	protein coding gene	Chr1:155603825-155622664 (-)
WSB/EiJ	ENSIUOG00005014408	protein coding gene	Chr1:152901024-152921762 (-)

Human Ortholog

TOR3A, torsin family 3 member A

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TOR3A, torsin family 3 member A
Synonyms

ADIR, ADIR2
Links

HGNC:11997

NCBI Gene ID: 64222

UniProt: Q9H497
Chr Location

1q25.2; chr1:179081854-179098023 (+) GRCh38

MGI Vertebrate Homology

Tor3a stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: TOR3A
Gene Tree

Tor3a

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
12 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

38
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

32
Targeted

2
Genomic Mutations

2 involving Tor3a
Find Mice (IMSR)

56 strains or lines available

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All GO Annotations

16
GO References

9

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

612
Tissues

2
cDNA Data

48
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tor3a

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All Sequences

64
RefSeq

2
UniProt

4
CCDS

CCDS15394.1

Ensembl

ENSMUSG00000060519 (Evidence)
NCBI Gene

30935

			Length	Strain/Species	Flank
genomic	30935	NCBI Gene Model \| MGI Sequence Detail	20723	C57BL/6J	± kb
transcript	NM_023141	RefSeq \| MGI Sequence Detail	3268	C57BL/6
polypeptide	Q9ER38	UniProt \| EBI \| MGI Sequence Detail	385	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000016554 torsin-3A

(term hierarchy)
InterPro Domains

IPR001270 ClpA/B family

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR010448 Torsin

IPR049337 Torsin-1A, C-terminal domain
GlyGen

Q9ER38 3 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (1 site)

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All nucleic 48

cDNA 48

Microarray probesets 8

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MGI:2149591

Summaries

All 45

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 12
Earliest

J:57110 Reese DE, et al., bves: A novel gene expressed during coronary blood vessel development. Dev Biol. 1999 May 1;209(1):159-71
Latest

J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Tor3a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr14467	Chr1:156502407-156502453 (-)	-521 bp
Tssr14466	Chr1:156501860-156501914 (-)	22 bp
Tssr14465	Chr1:156501843-156501857 (-)	59 bp
Tssr253	Chr1:156498931-156498947 (-)	2,970 bp
Tssr14464	Chr1:156497245-156497255 (-)	4,659 bp
Tssr14463	Chr1:156497182-156497207 (-)	4,714 bp
Tssr14462	Chr1:156495047-156495060 (-)	6,855 bp
Tssr14461	Chr1:156494388-156494400 (-)	7,515 bp
Tssr14460	Chr1:156484077-156484103 (-)	17,819 bp
Tssr14459	Chr1:156483297-156483335 (-)	18,593 bp
Tssr14458	Chr1:156482086-156482105 (-)	19,813 bp
Tssr14457	Chr1:156482068-156482079 (-)	19,835 bp
Tssr14456	Chr1:156481920-156481947 (-)	19,975 bp
Tssr14455	Chr1:156481807-156481842 (-)	20,084 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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