TOR1AIP1 (torsin 1A interacting protein 1)

2014-11-01  

Identity

HGNC
TOR1AIP1
LOCATION
1q25.2
LOCUSID
26092
ALIAS
LAP1,LAP1B,LAP1C,LGMD2Y
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26092
MIM: 614512
HGNC: 29456
Ensembl: ENSG00000143337

Variants:

dbSNP: 26092
ClinVar: 26092
TCGA: ENSG00000143337
COSMIC: TOR1AIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143337ENST00000271583J3KN66
ENSG00000143337ENST00000435319A0A0A0MSK5
ENSG00000143337ENST00000447964H0Y4R4
ENSG00000143337ENST00000527391H0YD16
ENSG00000143337ENST00000528443Q5JTV8
ENSG00000143337ENST00000529091H0YDJ8
ENSG00000143337ENST00000531630H0YDU3
ENSG00000143337ENST00000606911Q5JTV8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
251494502014How lamina-associated polypeptide 1 (LAP1) activates Torsin.36
248561412014Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.22
120617732002Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants.9
241161582013The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.6
307231992019Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.6
253239622015LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression.5
320559972020Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.1
281108632017Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene.0

Citation

Dessen P

TOR1AIP1 (torsin 1A interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75061/tor1aip1