SACM1L (SAC1 like phosphatidylinositide phosphatase)

2012-11-01  

Identity

HGNC
SACM1L
LOCATION
3p21.31
LOCUSID
22908
ALIAS
SAC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22908
MIM: 606569
HGNC: 17059
Ensembl: ENSG00000211456

Variants:

dbSNP: 22908
ClinVar: 22908
TCGA: ENSG00000211456
COSMIC: SACM1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000211456ENST00000389061Q9NTJ5
ENSG00000211456ENST00000418611E9PGZ4
ENSG00000211456ENST00000433336C9JV50
ENSG00000211456ENST00000438671C9J3E3
ENSG00000211456ENST00000441228F8WCQ2
ENSG00000211456ENST00000455997F8WDN7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the ER membraneREACTOMER-HSA-1483248
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD22041458
PA448687bupropionChemicalClinicalAnnotationassociatedPD22041458

References

Pubmed IDYearTitleCitations
358161602022Sac1 phosphatidylinositol 4-phosphate phosphatase is a novel host cell factor regulating hepatitis B virus particles assembly and release.1
358161602022Sac1 phosphatidylinositol 4-phosphate phosphatase is a novel host cell factor regulating hepatitis B virus particles assembly and release.1
306590992019The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.40
306590992019The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.40
293672532018Model of OSBP-Mediated Cholesterol Supply to Aichi Virus RNA Replication Sites Involving Protein-Protein Interactions among Viral Proteins, ACBD3, OSBP, VAP-A/B, and SAC1.33
293672532018Model of OSBP-Mediated Cholesterol Supply to Aichi Virus RNA Replication Sites Involving Protein-Protein Interactions among Viral Proteins, ACBD3, OSBP, VAP-A/B, and SAC1.33
284710372017Oxysterol-binding protein recruitment and activity at the endoplasmic reticulum-Golgi interface are independent of Sac1.4
284710372017Oxysterol-binding protein recruitment and activity at the endoplasmic reticulum-Golgi interface are independent of Sac1.4
260563092015Phosphoregulatory protein 14-3-3 facilitates SAC1 transport from the endoplasmic reticulum.19
260563092015Phosphoregulatory protein 14-3-3 facilitates SAC1 transport from the endoplasmic reticulum.19
184804082008The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals.48
184804082008The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals.48
145279562003The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex.48
145279562003The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex.48

Citation

Dessen P

SACM1L (SAC1 like phosphatidylinositide phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53041/sacm1l-(sac1-like-phosphatidylinositide-phosphatase)