SIPA1L3 (signal induced proliferation associated 1 like 3)

2014-08-01  

Identity

HGNC
SIPA1L3
LOCATION
19q13.13
LOCUSID
23094
ALIAS
CTRCT45,SPAL3,SPAR3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23094
MIM: 616655
HGNC: 23801
Ensembl: ENSG00000105738

Variants:

dbSNP: 23094
ClinVar: 23094
TCGA: ENSG00000105738
COSMIC: SIPA1L3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105738ENST00000222345O60292
ENSG00000105738ENST00000595384M0QX89
ENSG00000105738ENST00000601054M0R2Q7

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
262312172015Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.15
258044002015SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.7
309245962019SIPA1L3 methylation modifies the benefit of smoking cessation on lung adenocarcinoma survival: an epigenomic-smoking interaction analysis.5

Citation

Dessen P

SIPA1L3 (signal induced proliferation associated 1 like 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54620/sipa1l3-(signal-induced-proliferation-associated-1-like-3)