NECAP1 (NECAP endocytosis associated 1)

2014-11-01  

Identity

HGNC
NECAP1
LOCATION
12p13.31
LOCUSID
25977
ALIAS
DEE21,EIEE21
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25977
MIM: 611623
HGNC: 24539
Ensembl: ENSG00000089818

Variants:

dbSNP: 25977
ClinVar: 25977
TCGA: ENSG00000089818
COSMIC: NECAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089818ENST00000339754Q8NC96
ENSG00000089818ENST00000450991Q8NC96
ENSG00000089818ENST00000540083F5H2U7
ENSG00000089818ENST00000541948F5GYH1
ENSG00000089818ENST00000638237A0A1W2PR09
ENSG00000089818ENST00000638334A0A1W2PRW5
ENSG00000089818ENST00000638787A0A1W2PPF5
ENSG00000089818ENST00000639038A0A1W2PR27
ENSG00000089818ENST00000639167A0A1W2PNT6
ENSG00000089818ENST00000639595A0A1W2PRM0
ENSG00000089818ENST00000639811A0A1W2PRL5
ENSG00000089818ENST00000639841A0A1W2PQK9
ENSG00000089818ENST00000639955Q8NC96
ENSG00000089818ENST00000640209A0A1W2PRQ7

Expression (GTEx)

0
50
100
150
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
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
243998462014NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.12
314304512019Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation via AP2 Phosphorylation.4

Citation

Dessen P

NECAP1 (NECAP endocytosis associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70795/necap1