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FLASH GENE

Symbol

CALN1

contributors: mct/npt - updated : 11-03-2019

HGNC name	calneuron 1
HGNC id	13248

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q11.22      Physical location : 71.244.476 - 71.877.360
Synonym name	calcium-binding protein CABP8
Synonym symbol(s)	CABP8

DNA

TYPE	functioning gene
STRUCTURE	724.78 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031468 7 - 9500 NP_113656 29.2 261 - 2018 29109191 NM_001017440 6 - 9510 NP_001017440 24.7 219 - 2018 29109191 NM_001363460 6 - 9053 NP_001350389 - 219 - 2018 29109191

EXPRESSION

Type

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 Nervous brain hindbrain cerebellum   highly Homo sapiens   brain diencephalon hypothalamus     Homo sapiens   brain limbic system       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	late in development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four EF-hand domains and potential calcium binding sites
	three functional calcium-binding sites
	C-terminal TMD in residues 193–209, necessary and sufficient for targeting to specific sub-cellular membrane domains (Mc Cue 2009)

HOMOLOGY

interspecies

ortholog to murine Caln1

Homologene

FAMILY	calcium binding protein, calcimodulin superfamily
	CaBP family

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nuclear envelope
text	exhibit a membrane distribution distinct from the other CaBPs and consistent with localisation to the trans-Golgi network (TGN) (Mc Cue 2009)
	exhibiting localisation predominantly to a peri-nuclear compartment, intracellular vesicles and in some instances the plasma membrane (Mc Cue 2009)

basic FUNCTION	calcium regulation or signaling
	potentially involved in memory and learning
	possess a targeting mechanism that is unique amongst the CaBPs that may contribute to differential functional Ca2+-sensing by these family members (Mc Cue 2009)
	important regulator of a variety of plasma membrane and intracellular cation channels in neuronal cell types principally modulating cytosolic Ca2+ concentrations through control of influx from the extracellular fluid or efflux from intracellular stores (Mc Cue 2009)
	unique role for CABP7 and CALN1 in the regulation of PI4KB
	CABP7 and CALN1 are transmembrane Calmodulin-like EF-hand Ca(2+)-sensors, and a function in the control of Golgi-to-plasma membrane vesicle trafficking has been assigned to both proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	CALN1 and CABP7 physically associate with PI4KB, inhibit the enzyme profoundly at resting and low calcium levels, and negatively interfere with Golgi-to-plasma membrane trafficking
	CALN1 and CABP7 are nonclassical type II tail-anchored proteins that are post-translationally inserted into the endoplasmic reticulum membrane via an association of a 23AA-long transmembrane domain (TMD) with the ASNA1 chaperone complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   increased CALN1 expression in aldosterone-producing adenoma (APA)was associated with elevated Ca2+ storage in ER and aldosterone overproduction

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous hypertension   is a potential therapeutic target for excess aldosterone production

ANIMAL & CELL MODELS