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
184804082008The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals.43
145279562003The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex.42
260563092015Phosphoregulatory protein 14-3-3 facilitates SAC1 transport from the endoplasmic reticulum.12
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 SAC1.12
306590992019The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.9
284710372017Oxysterol-binding protein recruitment and activity at the endoplasmic reticulum-Golgi interface are independent of Sac1.4

Citation

Dessen P

SACM1L (SAC1 like phosphatidylinositide phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53041/sacm1l