Tor1aip1 MGI Mouse Gene Detail - MGI:3582693 - torsin A interacting protein 1

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Tor1aip1 Gene Detail

Symbol

Tor1aip1
Name

torsin A interacting protein 1
Synonyms

LAP1

Feature Type

protein coding gene
IDs

MGI:3582693
NCBI Gene: 208263
Alliance

genome feature page
Transcription Start Sites

32 TSS

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Sequence Map

Chr1:155880345-155912226 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 67.69 cM
Mapping Data

1 experiment

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SNPs within 2kb

673 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_3582693	protein coding gene	Chr1:155880328-155912226 (-)
129S1/SvImJ	ENSMUSG00200005830	protein coding gene	Chr1:153322267-153354155 (-)
A/J	ENSMUSG00195021908	protein coding gene	Chr1:152708380-152740624 (-)
AKR/J	ENSMUSG00220004849	protein coding gene	Chr1:152507662-152539900 (-)
BALB/cJ	ENSMUSG00180030944	protein coding gene	Chr1:152927551-152959794 (-)
C3H/HeJ	ENSMUSG00175002756	protein coding gene	Chr1:152971956-153004199 (-)
C57BL/6NJ	ENSMUSG00215003561	protein coding gene	Chr1:152866478-152898361 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014730	protein coding gene	Chr1:146720629-146751359 (-)
CAST/EiJ	ENSTCUG00005005481	protein coding gene	Chr1:151522076-151554160 (-)
CBA/J	ENSMUSG00210033691	protein coding gene	Chr1:152870060-152902309 (-)
DBA/2J	ENSMUSG00185040225	protein coding gene	Chr1:157146761-157179001 (-)
FVB/NJ	ENSMUSG00205023797	protein coding gene	Chr1:152002451-152034694 (-)
JF1/MsJ	ENSUMUG00000007631	protein coding gene	Chr1:156298753-156330979 (-)
LP/J	ENSMUSG00230015699	protein coding gene	Chr1:156712246-156744111 (-)
NOD/ShiLtJ	ENSMUSG00190011651	protein coding gene	Chr1:152718200-152750442 (-)
NZO/HlLtJ	ENSMUSG00225005813	protein coding gene	Chr1:160383750-160415630 (-)
PWK/PhJ	ENSLUMG00010027704	protein coding gene	Chr1:151657597-151689779 (-)
SPRET/EiJ	ENSMSPG00010035282	protein coding gene	Chr1:155012217-155042068 (-)
WSB/EiJ	ENSIUOG00005023042	protein coding gene	Chr1:152300774-152332672 (-)

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Human Ortholog

TOR1AIP1, torsin 1A interacting protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TOR1AIP1, torsin 1A interacting protein 1
Synonyms

LAP1, LAP1B, LAP1C, LGMD2Y
Links

HGNC:29456

NCBI Gene ID: 26092

UniProt: Q5JTV8
Chr Location

1q25.2; chr1:179882042-179920077 (+) GRCh38

MGI Vertebrate Homology

Tor1aip1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TOR1AIP1
Gene Tree

Tor1aip1

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Diseases

1 with human TOR1AIP1 associations

				Human Disease	Mouse Models
				autosomal recessive limb-girdle muscular dystrophy type 2Y IDs autosomal recessive limb-girdle muscular dystrophy type 2Y DOID:0110289 ICD10CM:G71.0 OMIM:617072 ORDO:424261

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

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Phenotype Summary

5 phenotypes from 3 alleles in 2 genetic backgrounds
4 phenotypes from multigenic genotypes
22 phenotype references

Phenotype Overview

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

23
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

15
Targeted

5
Genomic Mutations

2 involving Tor1aip1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available

Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues.

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All GO Annotations

34
GO References

10

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

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

672
Tissues

49
cDNA Data

10
Literature Summary

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tor1aip1

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All Sequences

77
RefSeq

20
UniProt

8
CCDS

CCDS15387.1, CCDS48401.1, CCDS48402.1

Ensembl

ENSMUSG00000026466 (Evidence)
NCBI Gene

208263

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000026466	Ensembl Gene Model \| MGI Sequence Detail	31882	C57BL/6J	± kb
	transcript	ENSMUST00000097527	Ensembl \| MGI Sequence Detail	4234	Not Applicable
	polypeptide	ENSMUSP00000095134	Ensembl \| MGI Sequence Detail	576	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000016551 torsin-1A-interacting protein 1

(term hierarchy)
InterPro Domains

IPR038599 LAP1C-like, C-terminal domain superfamily

IPR008662 Torsin-1A-interacting protein 1/2

IPR046753 Torsin-1A-interacting protein 1/2, AAA+ activator domain

IPR046754 Torsin-1A-interacting protein 1/2, N-terminal
GlyGen

Q921T2 5 sites, 5 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 10

cDNA 10

Antibodies 1

Microarray probesets 3

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Summaries

All 51

Developmental Gene Expression 4

Gene Ontology 10

Phenotypes 22
Earliest

J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Tor1aip1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr14414	Chr1:155913179-155913200 (-)	-964 bp
Tssr14413	Chr1:155913141-155913160 (-)	-925 bp
Tssr14412	Chr1:155913093-155913099 (-)	-870 bp
Tssr14411	Chr1:155912219-155912224 (-)	4 bp
Tssr250	Chr1:155912209-155912214 (-)	14 bp
Tssr14408	Chr1:155911895-155911903 (-)	327 bp
Tssr14407	Chr1:155911862-155911885 (-)	352 bp
Tssr14406	Chr1:155911833-155911844 (-)	387 bp
Tssr14405	Chr1:155911771-155911820 (-)	430 bp
Tssr14404	Chr1:155911757-155911761 (-)	467 bp
Tssr14403	Chr1:155911713-155911726 (-)	506 bp
Tssr14402	Chr1:155911700-155911712 (-)	520 bp
Tssr14401	Chr1:155911637-155911682 (-)	566 bp
Tssr14400	Chr1:155911627-155911636 (-)	594 bp
Tssr14399	Chr1:155911532-155911547 (-)	686 bp
Tssr14398	Chr1:155911082-155911086 (-)	1,142 bp
Tssr14397	Chr1:155910603-155910610 (-)	1,619 bp
Tssr14396	Chr1:155910572-155910585 (-)	1,647 bp
Tssr14395	Chr1:155910570-155910571 (-)	1,655 bp
Tssr14394	Chr1:155910546-155910560 (-)	1,673 bp
Tssr14393	Chr1:155910536-155910543 (-)	1,686 bp
Tssr14392	Chr1:155910511-155910525 (-)	1,708 bp
Tssr14391	Chr1:155909534-155909550 (-)	2,684 bp
Tssr14390	Chr1:155908694-155908724 (-)	3,517 bp
Tssr14388	Chr1:155883454-155883468 (-)	28,765 bp
Tssr14387	Chr1:155881958-155881977 (-)	30,258 bp
Tssr14386	Chr1:155881635-155881653 (-)	30,582 bp
Tssr14385	Chr1:155881620-155881634 (-)	30,599 bp
Tssr14384	Chr1:155881578-155881603 (-)	30,635 bp
Tssr14383	Chr1:155881536-155881556 (-)	30,680 bp
Tssr14382	Chr1:155881485-155881531 (-)	30,718 bp
Tssr14381	Chr1:155881436-155881455 (-)	30,780 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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