CALB1 (calbindin 1)

2021-06-01  

Identity

HGNC
CALB1
LOCATION
8q21.3
LOCUSID
793
ALIAS
CALB,D-28K

Other Information

Locus ID:

NCBI: 793
MIM: 114050
HGNC: 1434
Ensembl: ENSG00000104327

Variants:

dbSNP: 793
ClinVar: 793
TCGA: ENSG00000104327
COSMIC: CALB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104327ENST00000265431P05937
ENSG00000104327ENST00000518457P05937
ENSG00000104327ENST00000520613E5RG14
ENSG00000104327ENST00000523716E5RIZ8

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
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

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
185876252008Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28k.86
121769792002Myo-inositol monophosphatase is an activated target of calbindin D28k.22
185684482008Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease.22
185684482008Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease.22
222723582012Distribution of GABAergic interneurons and dopaminergic cells in the functional territories of the human striatum.22
202149882010Effects of calcitriol on calbindins gene expression and lipid peroxidation in human placenta.10
157413352005Deamidation and disulfide bridge formation in human calbindin D28k with effects on calcium binding.9
264176812015Loss of calbindin-D28K is associated with the full range of tangle pathology within basal forebrain cholinergic neurons in Alzheimer's disease.9
156417942005Redox sensitive cysteine residues in calbindin D28k are structurally and functionally important.8
224838532012Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS.8

Citation

Dessen P

CALB1 (calbindin 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58305/calb1-(calbindin-1)