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FLASH GENE

Symbol

CCHCR1

contributors: - updated : 16-02-2006

HGNC name	coiled-coil alpha-helical rod protein 1
HGNC id	13930

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.3      Physical location : 2.406.050 - 31.126.015
Synonym name	trichohyalin homolog
	alpha helix coiled coil rod homolog
	chromosome 6 open reading frame 18
Synonym symbol(s)	PG8, HCR, SBP, C6orf18

DNA

TYPE	functioning gene
STRUCTURE	15.00 kb     18 Exon(s)

regulatory sequence	Promoter
motif	repetitive sequence   other
text structure	two SNP in exon 2

MAPPING

cloned

Y

linked

N

status

provisional

Map	see POU5F1

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	ubiquitous

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 Digestive intestine small intestine     highly   liver       highly   stomach       moderately Lymphoid/Immune spleen       moderately   thymus       highly Nervous brain       moderately Reproductive female system ovary     moderately   female system uterus cervix   predominantly   male system testis     highly Respiratory lung       lowly Skin/Tegument skin       moderately Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Epithelial barrier/lining       Lymphoid         Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage
cell lines	pituitary tumor cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

alpha helical coils

HOMOLOGY

interspecies	homolog to Drosophila CG6197
	homolog to C.elegans C50F2.3
	ortholog to chimpazee hcr
	ortholog to murine Cchcr1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION

may be a regulator of keratinocyte proliferation or differentiation

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

interferon-gamma in keratinocytes

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

psoriasis (PSORS1)

Variant & Polymorphism SNP	associated with PSORS1

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS