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FLASH GENE

Symbol

POLD1

contributors: mct - updated : 23-11-2013

HGNC name	polymerase (DNA directed), delta 1, catalytic subunit 125kDa
HGNC id	9175

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDPL mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Location	19q13.33      Physical location : 50.887.592 - 50.921.270
Synonym symbol(s)	POLD, CDC2, CRCS10, MDPL
EC.number	2.7.7.7

DNA

TYPE	functioning gene
STRUCTURE	33.74 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site
text structure	Y-box sequence 5' - CTGATTGG - 3' in its cis-regulatory elements
	a GC-rich promoter region
	multiple transcription start sites
	two 11 bp direct repeat
	Sp1 binding sites
	a novel element in the POLD1 promoter known as a CDE(cell cycle-dependent element)/CHR(cell cycle gene homology region) element, an active functional element in the POLD1 promoter, which is important for the cell cycle regulation of the POLD1 gene

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001256849 27 - 3467 NP_001243778 - 1107 - 2001 11375983 NM_002691 27 - 3464 NP_002682 - 1107 - 2001 11375983

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 Digestive liver         Endocrine pancreas       highly Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

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 nuclear localization signal (NLS) in the N terminus
	two zinc fingers in the C terminus

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine Pold1
	homolog to C.elegans F10C2.4

Homologene

FAMILY

DNA polymerase type B family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	also possessing an intrinsic proofreading function that reduces the levels of errors during replication
	plays a central role in chromosomal DNA replication, repair, and recombination
	WRN and POLD1, are involved in maintaining cellular genomic stability
	plays an essential role in genome stability by virtue of its crucial DNA replication and repair capacity
	important role for POLD1 function in adipose tissue homeostasis

CELLULAR PROCESS	nucleotide, replication
	nucleotide, repair

PHYSIOLOGICAL PROCESS

text	nuclear genome

PATHWAY

metabolism

signaling

a component	catalytic subunit of DNA polymerase delta 1
	heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	zinc Zn2+

protein

WRN and POLD1 co-operate to maintain the fidelity of DNA transactions and, thus, genomic stability

cell & other

REGULATION

repressed by

TP53

ASSOCIATED DISORDERS

corresponding disease(s)

MDPL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in sporadic colorectal cancer constitutional     --low   mRNA expression of DNA POLD1 decreased substantially with age

Susceptibility

to colorectal adenomas and carcinomas

Variant & Polymorphism other	POLD1 p.Ser478Asn, have high penetrance, and is associated with colorectal adenomas and carcinomas and endometrial cancer predisposition

Candidate gene
Marker	DNA POLD1 has great potential for a new biomarker of aging
Therapy target

ANIMAL & CELL MODELS