HPCAL1 (hippocalcin like 1)

2016-08-01  

Identity

HGNC
HPCAL1
LOCATION
2p25.1
LOCUSID
3241
ALIAS
BDR1,HLP2,VILIP-3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3241
MIM: 600207
HGNC: 5145
Ensembl: ENSG00000115756

Variants:

dbSNP: 3241
ClinVar: 3241
TCGA: ENSG00000115756
COSMIC: HPCAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115756ENST00000307845P37235
ENSG00000115756ENST00000307845Q6FGY1
ENSG00000115756ENST00000381765P37235
ENSG00000115756ENST00000381765Q6FGY1
ENSG00000115756ENST00000419810E9PC71
ENSG00000115756ENST00000422133H7BZC1
ENSG00000115756ENST00000423674C9JW46
ENSG00000115756ENST00000613496P37235
ENSG00000115756ENST00000613496Q6FGY1
ENSG00000115756ENST00000620771P37235
ENSG00000115756ENST00000620771Q6FGY1
ENSG00000115756ENST00000622018P37235
ENSG00000115756ENST00000622018Q6FGY1

Expression (GTEx)

0
50
100
150
200
250
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
210599892011Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals.70
111738832001Abnormal localization of two neuronal calcium sensor proteins, visinin-like proteins (vilips)-1 and -3, in neocortical brain areas of Alzheimer disease patients.20
266596542016Hippocalcin-like 1 suppresses hepatocellular carcinoma progression by promoting p21(Waf/Cip1) stabilization by activating the ERK1/2-MAPK pathway.16
238730302014Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.8
158342802005Hypertension susceptibility genes on chromosome 2p24-p25 in a general Japanese population.7
167034692006Functional contribution of Ca2+ and Mg2+ to the intermolecular interaction of visinin-like proteins.7
147392752004Neuronal calcium sensor protein visinin-like protein-3 interacts with microsomal cytochrome b5 in a Ca2+-dependent manner.5
278208602016Structure and Calcium Binding Properties of a Neuronal Calcium-Myristoyl Switch Protein, Visinin-Like Protein 3.3
250196842014Specific interaction to PIP2 increases the kinetic rate of membrane binding of VILIPs, a subfamily of Neuronal Calcium Sensors (NCS) proteins.2

Citation

Dessen P

HPCAL1 (hippocalcin like 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55870/hpcal1