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FLASH GENE

Symbol

CC2D1A

contributors: mct/npt - updated : 24-10-2009

HGNC name	coiled-coil and C2 domain containing 1A
HGNC id	30237

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRAR3 mental retardation, non-syndromic, 3
Location	19p13.12      Physical location : 14.016.955 - 14.041.693
Synonym name	putative NFkB activating protein
	FRE under dual repression-binding protein 1
	five repressor element under dual repression-binding protein 1
Synonym symbol(s)	FREUD-1, FLJ20241, FLJ41160, MRT3, FREUD1/AKI1

DNA

TYPE	functioning gene
STRUCTURE	24.74 kb     29 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_017721 29 - 3644 NP_060191 104 951 more abundant in human cells, especially in the nuclear fraction Basel-Vanagaite, Nakamura (2008) also called Freud-1l major isoform that regulates the HTR1A gene (Rogaeva 2007) variant 2 - - - isoform 2 - 388 - Basel-Vanagaite, Rogaeva (2007) also called Freud-1s lack exons 14 and 16

EXPRESSION

Type

widely

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 esophagus       highly Lymphoid/Immune thymus       highly Reproductive male system prostate     highly Skin/Tegument skin       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a VWFC domain
	a C2 domain required for the repression

HOMOLOGY

interspecies

ortholog to murine Cc2d1a

Homologene

FAMILY

fibrillar collagen family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	nuclear localization enriched upon inhibition of chromosome region maintenance 1/exportin 1-dependent nuclear export, indicating a dynamic regulation of its nuclear localization (Rogaeva 2007)

basic FUNCTION	putative signal transducer, involved in positive regulation of I-kappaB kinase/NF-kappaB cascade
	playing an important role in cognitive development
	induced formation of a PDK1/Akt complex and regulated Akt activation in a concentration-dependent biphasic manner (Nakamura 2008)
	novel receptor-selective scaffold protein for the PDK1/Akt pathway and present a new activation mechanism of Akt (Nakamura 2008)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRAR3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS