ACIN1 (apoptotic chromatin condensation inducer 1)

2007-07-01  

Identity

HGNC
ACIN1
LOCATION
14q11.2
LOCUSID
22985
ALIAS
ACINUS,ACN,fSAP152
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22985
MIM: 604562
HGNC: 17066
Ensembl: ENSG00000100813

Variants:

dbSNP: 22985
ClinVar: 22985
TCGA: ENSG00000100813
COSMIC: ACIN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100813ENST00000262710Q9UKV3
ENSG00000100813ENST00000338631Q9UKV3
ENSG00000100813ENST00000357481Q9UKV3
ENSG00000100813ENST00000397341Q9UKV3
ENSG00000100813ENST00000457657E7EQT4
ENSG00000100813ENST00000473758A0A087X0D2
ENSG00000100813ENST00000555053Q9UKV3
ENSG00000100813ENST00000555352A0A087WYN3
ENSG00000100813ENST00000555566G3V3T3
ENSG00000100813ENST00000557515G3V3B0
ENSG00000100813ENST00000605057S4R3H4

Expression (GTEx)

0
50
100
150
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
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465

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
161778232005Akt phosphorylates acinus and inhibits its proteolytic cleavage, preventing chromatin condensation.38
193874942009The antiapoptotic protein AAC-11 interacts with and regulates Acinus-mediated DNA fragmentation.33
165375482006Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis.26
182501532008Acinus-S' represses retinoic acid receptor (RAR)-regulated gene expression through interaction with the B domains of RARs.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
196682322009NGF inhibits human leukemia proliferation by downregulating cyclin A1 expression through promoting acinus/CtBP2 association.9
273652092016The RNA-binding profile of Acinus, a peripheral component of the exon junction complex, reveals its role in splicing regulation.9
252053792015Role of Acinus in regulating retinoic acid-responsive gene pre-mRNA splicing.6
259077652015Functional Proteomics Identifies Acinus L as a Direct Insulin- and Amino Acid-Dependent Mammalian Target of Rapamycin Complex 1 (mTORC1) Substrate.6
174098462006The ACIN1 gene is hypermethylated in early stage lung adenocarcinoma.5

Citation

Dessen P

ACIN1 (apoptotic chromatin condensation inducer 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47659/acin1