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FLASH GENE

Symbol

CALB1

contributors: mct/npt - updated : 03-06-2015

HGNC name	calbindin 1, 28kDa
HGNC id	1434

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q21.3-q22.1      Physical location : 91.070.837 - 91.095.107
Synonym name	RTVL-H protein
	vitamin d-dependent calcium-binding protein avian type
Synonym symbol(s)	CALB, CAB27, CABV, D-28K

DNA

TYPE	functioning gene
STRUCTURE	24.27 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	calcium binding sites

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 11 - 2531 - 231 - Mizuta (2008)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine           stomach         Nervous brain         Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six EF-hand Ca2+ binding motifs
	four calcium binding sites

HOMOLOGY

interspecies

homolog to murine Calb1

Homologene

FAMILY

calbindin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	vitamin D dependent calcium binding protein 1
	acting not only as a potent calcium buffer but also as a calcium sensor
	calcium-binding protein that widely is expressed in neurons
	CALB1, CALB2, PVALB, regulate presynaptic inner hair cells (IHCs) function for metabolically efficient sound coding

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

targeting IMPA1 in spines and dendrites of cerebellar Purkinje neurons

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Parkinson disease (associated with PD independently of SNCA)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS