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FLASH GENE

Symbol

EFHD1

contributors: mct - updated : 30-05-2016

HGNC name	EF hand domain containing 1
HGNC id	29556

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	76.72 kb     4 Exon(s)

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_001243252 7 - 1607 NP_001230181 - 143 - 2002 12270117 NM_025202 4 - 2000 NP_079478 - 239 - 2002 12270117 NM_001308395 - - 2081 NP_001295324 - 127 - 2002 12270117

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         Reproductive female system breast mammary gland       female system ovary       Respiratory lung         Skin/Tegument skin         Urinary kidney         Visual eye

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, developing brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a disordered region at the N-terminus, followed by
	two EF-hand calcium-binding domains
	one VWFC domain.
	coiled-coil region at C terminal

HOMOLOGY

interspecies

homolog to murine Efhd1

intraspecies

homolog to EFHD2

Homologene

FAMILY

fibrillar collagen family

CATEGORY

adaptor , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	playing a role in the neuronal differentiation and function
	modulates apoptosis and differentiation of neuronal and muscle precursor cells, probably through an association with mitochondria
	is part of a cellular response to oxidative stress, which could explain its pro-survival activity in neuronal, muscle and perhaps some malignant tissues
	EFHD1 and EFHD2 are conserved and very homologous Ca(2+) binding adaptor proteins of the EF hand family, with possibly redundant functions
	EFHD1 functions as a novel mitochondrial Ca(2+) sensor underlying Ca(2+)-dependent activation of mitoflashes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	PPP1R3C methylation or its combined use of EFHD1 methylation was highly positive in colorectal cancer (CRC) plasma samples, and they might be useful in detection of CRC, especially for early-stage CRCs
Therapy target

ANIMAL & CELL MODELS