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FLASH GENE

Symbol

RFC2

contributors: mct - updated : 30-11-2010

HGNC name	replication factor C (activator 1) 2, 40kDa
HGNC id	9970

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	WBS Williams Beuren syndrome
Location	7q11.23      Physical location : 73.645.833 - 73.668.738
Synonym name	activator 1
	RF-C 40 kDa subunit
	A1 40 kDa subunit
Synonym symbol(s)	A1, RFC40, MGC3665

DNA

TYPE	functioning gene
STRUCTURE	22.91 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002914 10 - 1613 NP_002905 - 320 - 1996 8651315 NM_181471 11 - 1715 NP_852136 - 354 - 1996 8651315

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 Cardiovascular heart         Endocrine pancreas       highly Nervous brain       highly Reproductive male system prostate     highly Respiratory lung         Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a PCNA binding region,an ATP binding domain
	a DEAD/H box (Asp-Glu-Ala-Asp/His)

mono polymer

heteromer , pentamer

HOMOLOGY

interspecies	homolog to murine Rfc2
	homolog to Drosophila rfc40
	homolog to C.elegans rfc-2

intraspecies

Homologene

FAMILY	activator 1 small subunits family
	AAA+ family of ATPase and ATPase-like proteins

CATEGORY

regulatory , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION

activator of DNA polymerases

CELLULAR PROCESS

nucleotide, replication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of complex A-1,DNA polymerase accessory protein "clamp loader", ATP dependent, required to assemble PCNA and polymerase delta on the DNA template
	complex ATAD5-RFC2-RFC5 functions in a fundamental DNA metabolism to suppress genomic instability
	heteropentamer of subunit of 140/145, 40,38, 37 and 36.5 kDa (RFC is a pentamer comprising a large subunit, RFC1, and four small subunits, RFC2-RFC5)

INTERACTION

DNA

binding

RNA

small molecule	nucleotide,
	ATP

protein

binding to PCNA

cell & other

REGULATION

activated by

BCR/ABL

Other

regulated by RPA1 (plays a regulatory role in DNA damage responses via repression of RFC2 ubiquitylation in cells)

ASSOCIATED DISORDERS

corresponding disease(s)

WBS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS