SERAC1 (serine active site containing 1)

2014-11-01  

Identity

HGNC
SERAC1
LOCATION
6q25.3
LOCUSID
84947
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84947
MIM: 614725
HGNC: 21061
Ensembl: ENSG00000122335

Variants:

dbSNP: 84947
ClinVar: 84947
TCGA: ENSG00000122335
COSMIC: SERAC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122335ENST00000367101Q96JX3
ENSG00000122335ENST00000435180Q5JVM6
ENSG00000122335ENST00000606965U3KQE4
ENSG00000122335ENST00000607071U3KQG3
ENSG00000122335ENST00000607742U3KQG3
ENSG00000122335ENST00000642244A0A2R8Y3S0
ENSG00000122335ENST00000642903A0A2R8YD19
ENSG00000122335ENST00000644972A0A2R8YFH3
ENSG00000122335ENST00000645077U3KQG3
ENSG00000122335ENST00000645172U3KQG3
ENSG00000122335ENST00000646208A0A2R8YCL0
ENSG00000122335ENST00000646410A0A2R8Y511
ENSG00000122335ENST00000646562U3KQG3
ENSG00000122335ENST00000647468Q96JX3
ENSG00000122335ENST00000648111A0A3B3ISE8

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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

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
226837132012Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.51
239187622013Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.11
237077112013Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.10
289166462018SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.7
292054722017Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.4
271867032015Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.1
287787882018Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.1
309091202019Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.0

Citation

Dessen P

SERAC1 (serine active site containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73130/serac1