SCFD1 (sec1 family domain containing 1)

2014-11-01  

Identity

HGNC
SCFD1
LOCATION
14q12
LOCUSID
23256
ALIAS
C14orf163,RA410,SLY1,SLY1P,STXBP1L2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23256
MIM: 618207
HGNC: 20726
Ensembl: ENSG00000092108

Variants:

dbSNP: 23256
ClinVar: 23256
TCGA: ENSG00000092108
COSMIC: SCFD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092108ENST00000311943J3KNG4
ENSG00000092108ENST00000396629Q8WVM8
ENSG00000092108ENST00000458591Q8WVM8
ENSG00000092108ENST00000463622G3V3K9
ENSG00000092108ENST00000469043H0YJY1
ENSG00000092108ENST00000484733G3V551
ENSG00000092108ENST00000544052Q8WVM8
ENSG00000092108ENST00000553693G3V5E2
ENSG00000092108ENST00000554437H0YIZ7
ENSG00000092108ENST00000554776H0YJS6
ENSG00000092108ENST00000555259G3V5F3
ENSG00000092108ENST00000556768G3V4I1
ENSG00000092108ENST00000557076G3V2M8
ENSG00000092108ENST00000557713G3V363

Expression (GTEx)

0
10
20
30
40
50
60
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
274553482016Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.96
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195361322009Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.43
292606012018An association study between SCFD1 rs10139154 variant and amyotrophic lateral sclerosis in a Chinese cohort.0
312673152019Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?0

Citation

Dessen P

SCFD1 (sec1 family domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73032/scfd1