SAR1A (secretion associated Ras related GTPase 1A)

2014-11-01  

Identity

HGNC
SAR1A
LOCATION
10q22.1
LOCUSID
56681
ALIAS
SAR1,SARA1,Sara,masra2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56681
MIM: 607691
HGNC: 10534
Ensembl: ENSG00000079332

Variants:

dbSNP: 56681
ClinVar: 56681
TCGA: ENSG00000079332
COSMIC: SAR1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079332ENST00000373236Q5SQT8
ENSG00000079332ENST00000373238Q9NR31
ENSG00000079332ENST00000373238Q5SQT9
ENSG00000079332ENST00000373239X1WI22
ENSG00000079332ENST00000373241Q9NR31
ENSG00000079332ENST00000373241Q5SQT9
ENSG00000079332ENST00000373242Q9NR31
ENSG00000079332ENST00000373242Q5SQT9
ENSG00000079332ENST00000431664Q9NR31
ENSG00000079332ENST00000431664Q5SQT9
ENSG00000079332ENST00000452767H0Y5E8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
COPII complexKEGGhsa_M00404
LegionellosisKEGGko05134
LegionellosisKEGGhsa05134
COPII complexKEGGM00404

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
179811332007Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31.100
230196512012Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.71
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
206249032010Sar1 assembly regulates membrane constriction and ER export.35
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
229749792012Modulation of membrane rigidity by the human vesicle trafficking proteins Sar1A and Sar1B.17
183187672008Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia.16
173737002007Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.15
193571972009Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.15
266073902015Downregulation of the small GTPase SAR1A: a key event underlying alcohol-induced Golgi fragmentation in hepatocytes.13

Citation

Dessen P

SAR1A (secretion associated Ras related GTPase 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72979/sar1a