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FLASH GENE

Symbol

CITED1

contributors: mct/npt - updated : 08-07-2008

HGNC name	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
HGNC id	1986

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq13.1      Physical location : 71.521.489 - 71.527.037
Synonym name	melanocyte-specific gene 1
Synonym symbol(s)	MSG1

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	5.00 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - ED1 - IL2RG ,TAF1 - DXS131 - RPS4X ,PHKA1 ,DXS227 ,CITED1 - XIST ,DXS128 - PGK1 - qter
Authors	Fenner (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 1203 - 193 - Lovvorn (2007)

EXPRESSION

Type	restricted

constitutive of

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 Endocrine neuroendocrine pituitary       Reproductive male system testis       Skin/Tegument skin         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage
cell lines	pigmented melanoma cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nuclear protein with a serine /threonine-rich region
	a glutamic-aspartic (ED) rich C terminal domain with transactivating activity

HOMOLOGY

interspecies

homolog to murine Cited1

Homologene

FAMILY

CITED family of cofactors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional activator dependent on transforming growth factor beta signaling pathway and interaction with SMAD4
	functioning as a cell cycle-dependent transcriptional cofactor whose activity is regulated by phosphorylation
	involved in regulating a wide variety of CBP/p300-dependent transcriptional responses

CELLULAR PROCESS	cell life
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	epidermal development and maintenance

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with MADH4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the condensed metanephric mesenchyme could play a role in Wilms tumor initiation and pathogenesis tumoral     --over   in papillary thyroid carcinoma (PTC), pigmented melanoma

Susceptibility

Variant & Polymorphism

Candidate gene	marker of primitive blastema in Wilms tumors
Marker
Therapy target

ANIMAL & CELL MODELS