SCFD1 (sec1 family domain containing 1)

2014-11-01 Affiliation

Identity

HGNC

SCFD1

LOCATION

14q12

LOCUSID

23256

ALIAS

C14orf163,RA410,SLY1,SLY1P,STXBP1L2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000092108	ENST00000311943	J3KNG4
ENSG00000092108	ENST00000396629	Q8WVM8
ENSG00000092108	ENST00000458591	Q8WVM8
ENSG00000092108	ENST00000463622	G3V3K9
ENSG00000092108	ENST00000469043	H0YJY1
ENSG00000092108	ENST00000484733	G3V551
ENSG00000092108	ENST00000544052	Q8WVM8
ENSG00000092108	ENST00000553693	G3V5E2
ENSG00000092108	ENST00000554437	H0YIZ7
ENSG00000092108	ENST00000554776	H0YJS6
ENSG00000092108	ENST00000555259	G3V5F3
ENSG00000092108	ENST00000556768	G3V4I1
ENSG00000092108	ENST00000557076	G3V2M8
ENSG00000092108	ENST00000557713	G3V363

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle Transport	REACTOME	R-HSA-204005
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35234271	2022	Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis.	2
35234271	2022	Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis.	2
34785650	2021	mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation.	22
34785650	2021	mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation.	22
31267315	2019	Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?	7
31267315	2019	Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?	7
29260601	2018	An association study between SCFD1 rs10139154 variant and amyotrophic lateral sclerosis in a Chinese cohort.	2
29260601	2018	An association study between SCFD1 rs10139154 variant and amyotrophic lateral sclerosis in a Chinese cohort.	2
27455348	2016	Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.	274
27455348	2016	Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.	274
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
19536132	2009	Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.	54
19536132	2009	Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.	54

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-(sec1-family-domain-containing-1)