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FLASH GENE

Symbol

NCALD

contributors: mct - updated : 13-03-2017

HGNC name	neurocalcin delta
HGNC id	7655

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Digestive intestine small intestine     moderately Nervous brain hindbrain cerebellum       spinal cord anterior horn       Homo sapiens Reproductive female system ovary     lowly   male system testis     lowly Visual eye       highly   eye uvea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial         Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Visual cone photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two pairs of EF-hand domains and an N-terminal myristoyl anchor, which enables switching from cytosolic to membrane-bound forms in a Ca2+-dependent manner

HOMOLOGY

Homologene

FAMILY

EF-hand calcium-binding protein superfamily ,recoverin subfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	clathrin coat of trans-Golgi network vesicle
	localizes at the presynaptic terminals of NMJs, suggesting a potential role at the NMJ

basic FUNCTION	may be involved in the calcium-dependent regulation of rhodopsin phosphorylation
	GLS, NCALD and INSR are involved in nutrient signaling pathways and energy homeostasis suggesting a role in celiac disease pathogenesis
	involved in the control of clathrin- coated vesicle traffic
	is a Ca2+-dependent negative regulator of endocytosis
	neuronal Ca2+ sensor protein, that is an SMA-protective modifier
	has a Ca2+-dependent interaction with clathrin and is thereby able to modulate endocytosis and likely vesicle recycling at the motor endplate
	is a brain-enriched neuronal calcium sensor and its reduction acts protective against spinal muscular atrophy (SMA)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	at the membrane, the myristoylated form of NCALD senses submicromolar increments in free Ca(2+), binds to its specific GUCY2D domain, and stimulates the cyclase
	union between the catalytic domain of GUCY2D and NCALD, and NCALD-binding transduction motif of the catalytic domain consists of a helix–loop–helix structure
	NRF1 could be a regulatory factor for VSNL1 gene expression and for other visinin-like subfamily members including HPCAL4, HPCAL1, HPCA, and NCALD
	interacts with clathrin and actin, both of which are involved in endocytosis and synaptic vesicle recycling
	acts as a negative regulator of endocytosis, which is in contrast to PLS3 acting as its positive regulator
	MAP3K10 is a novel NCALD interacting partner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   counteract the impaired axonal development of SMN-deficient MNs tumoral     --over   of PDIA3, LYAR, NOP14, NCALD and MTSS1 genes in the ovarian cancer with poor prognosis

Susceptibility

to diabetic nephropathy

Variant & Polymorphism other	polymorphisms in the 3prime UTR in NCALD affect mRNA stability, and confer susceptibility to diabetic nephropathy

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular spinal muscular atrophy   combinatorial therapy that both elevates SMN and decreases NCALD (by ASO treatment) may provide a full protection, resulting in asymptomatic individuals neurology neurodegenerative Parkinson/dementia Parkinsonism NCALD downregulation might become an efficient strategy against SMA and other neurodegenerative diseases neuromuscular spinal muscular atrophy   NCALD reduction as a therapeutic option for SMA

ANIMAL & CELL MODELS

Ncald downregulation in the nervous system of SMA mice ameliorates also muscle pathology