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FLASH GENE

Symbol

TTC3

contributors: mct/npt - updated : 20-05-2009

HGNC name	tetratricopeptide repeat domain 3
HGNC id	12393

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.13      Physical location : 38.445.570 - 38.575.406
Synonym name	tetratricopeptide-repeat containing gene isoform 3
	RING finger protein 105
	TPR repeat protein D
	protein DCRR1
Synonym symbol(s)	TPRD3, DCRR1, TPRD, TPRDI, TPRDII, TPRDIII, RNF105, DKFZp686M0150

DNA

TYPE	functioning gene
STRUCTURE	129.84 kb     46 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	gene isoform 3, on the Down syndrome critical region

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed TPRD1 or variant 1 45 - 9021 229.9 2025 - Tsukahara (1998), Berto (2007) TPRD2 - initiation site 8992 - 1792 - Tsukahara (1998) TPRD3 - initiation site 7416 - 1715 - Tsukahara (1998) two third of the TPR motif DCRR1 - - 7360 220.2 1945 testis only Eki (1997) variant 2 45 - 7730 - 2025 - Berto(2007)

EXPRESSION

Type	ubiquitous

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 stomach       highly Hearing/Equilibrium ear       highly Reproductive female system uterus     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	ubiquitous

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal protein phosphatase domain
	a coiled coil region within the TPR made of three tetratricopeptide repeats near in the C terminal region

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

basic FUNCTION	inhibits neuronal differentiation via RhoA and Citron kinase (Berto 2007)
	polyubiquitin binding protein involved in NF-kappaB signaling (Fenner 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

TTC3-RhoA-CIT-K pathway that could be a crucial determinant of neuronal development, whose hyperactivity may result in detrimental effects on the normal differentiation program (Berto 2007)

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with Citron kinase (CIT-K) and Citron N (CIT-N), two effectors of the RhoA small GTPase that have previously been involved in neuronal proliferation and differentiation (Berto 2007)

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS