SGIP1 (SH3GL interacting endocytic adaptor 1)

2014-11-01  

Identity

HGNC
SGIP1
LOCATION
1p31.3
LOCUSID
84251
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84251
MIM: 611540
HGNC: 25412
Ensembl: ENSG00000118473

Variants:

dbSNP: 84251
ClinVar: 84251
TCGA: ENSG00000118473
COSMIC: SGIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118473ENST00000237247Q9BQI5
ENSG00000118473ENST00000371037Q9BQI5
ENSG00000118473ENST00000371039Q9BQI5
ENSG00000118473ENST00000424320F6R8P8
ENSG00000118473ENST00000435165Q6ZV33

Expression (GTEx)

0
5
10
15
20
25
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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

References

Pubmed IDYearTitleCitations
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
204214872010Genome-wide association identifies candidate genes that influence the human electroencephalogram.37
176260152007SGIP1alpha is an endocytic protein that directly interacts with phospholipids and Eps15.18
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
209468752010Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.11
214071712012Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass.9
268225362016Structural basis for the recognition of two consecutive mutually interacting DPF motifs by the SGIP1 μ homology domain.8
213176822011Nonreplication of an association of SGIP1 SNPs with alcohol dependence and resting theta EEG power.4
280309332016Event-related potentials (ERP) and SGIP1 gene polymorphisms in alcoholics: relation to family history of alcoholism and drug usage.3

Citation

Dessen P

SGIP1 (SH3GL interacting endocytic adaptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73182/sgip1