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Tor1aip1 Gene Detail
Summary
  • Symbol
    Tor1aip1
  • Name
    torsin A interacting protein 1
  • Synonyms
    LAP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3582693
    NCBI Gene: 208263
  • Alliance
    gene page
  • Transcription Start Sites
    34 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    231 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0016618
 protein coding gene Chr1:160963965-160997697 (-)
A/J MGP_AJ_G0016599
 protein coding gene Chr1:154498940-154535501 (-)
AKR/J MGP_AKRJ_G0016565
 protein coding gene Chr1:159231385-159263431 (-)
BALB/cJ MGP_BALBcJ_G0016560
 protein coding gene Chr1:155007230-155039415 (-)
C3H/HeJ MGP_C3HHeJ_G0016384
 protein coding gene Chr1:159353890-159388061 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017021
 protein coding gene Chr1:166491209-166531336 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014730
 protein coding gene Chr1:146720629-146751359 (-)
CAST/EiJ MGP_CASTEiJ_G0015964
 protein coding gene Chr1:158896731-158930481 (-)
CBA/J MGP_CBAJ_G0016359
 protein coding gene Chr1:172333536-172368601 (-)
DBA/2J MGP_DBA2J_G0016465
 protein coding gene Chr1:153466822-153498917 (-)
FVB/NJ MGP_FVBNJ_G0016463
 protein coding gene Chr1:151927115-151959603 (-)
LP/J MGP_LPJ_G0016536
 protein coding gene Chr1:162100888-162136606 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016488
 protein coding gene Chr1:179920400-179959213 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017057
 protein coding gene Chr1:159037586-159069766 (-)
PWK/PhJ MGP_PWKPhJ_G0015750
 protein coding gene Chr1:152538737-152571579 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015537
 protein coding gene Chr1:157790540-157821772 (-)
WSB/EiJ MGP_WSBEiJ_G0016026
 protein coding gene Chr1:159131764-159164629 (-)



Homology
more
  • 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
    NCBI Gene ID: 26092
    neXtProt AC: NX_Q5JTV8
    UniProt: Q5JTV8

  • Chr Location
    1q25.2; chr1:179882042-179920077 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TOR1AIP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 3 alleles in 2 genetic backgrounds
    4 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

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.
Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    25
  • GO References
    8
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
    781
  • Tissues
    49
  • cDNA Data
    10
  • Literature Summary
    4
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
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  
For the selected sequence
Protein
Information
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  • UniProt
    7 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
Molecular
Reagents
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  • All nucleic 10
    cDNA 10

    Microarray probesets 3
References
more
  • Summaries
    All 44
    Developmental Gene Expression 4
    Gene Ontology 8
    Phenotypes 19
  • 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:345574 Hernandez-Ono A, et al., Dynamic regulation of hepatic lipid metabolism by torsinA and its activators. JCI Insight. 2024 Jan 9;:e175328
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory