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FLASH GENE

Symbol

POLR1A

contributors: SGE/npt - updated : 21-06-2023

HGNC name	polymerase (RNA) 1 polypeptide A, 194kDa
HGNC id	17264

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACCAL ataxia, cerebellar and cerebral atrophy, and leukodystrophy AFD3 acrofacial dysostosis 3, Cincinnati Type NDCFL neurodevelopmental abnormalities and structural cardiac defects, with craniofacial anomalies and variable limb defects
Location	2p11.2      Physical location : 86.253.452 - 86.333.278
Synonym name	DNA-directed RNA polymerase I largest subunit
	RNA polymerase I 194 kDa subunit
Synonym symbol(s)	FLJ10750, FLJ21915, RPO1-4, DKFZP586M0122, RPA1, RPA194, A190, MGC87965, RPO14
EC.number	2.7.7.6

DNA

TYPE	functioning gene
STRUCTURE	79.83 kb     34 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015425 34 - 6637 NP_056240 - 1720 - 1997 9236775

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Polr1a (87.1pc)
	homolog to rattus Polr1a (88.4pc)

Homologene

FAMILY

RNA polymerase beta chain family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus

basic FUNCTION	catalytic subunit with transferase activity
	largest subunit of RNA polymerase I, which plays a key role in transcribing ribosomal RNA during the process of ribosome biogenesis
	role of PILR1A in craniofacial development, and requirements for POLR1A in cardiac and neural development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

a component

component of the multisubunit complex of eukaryotic nuclear DNA directed RNA polymerase, producing rRNA, brought to ribosomal genes as a distinct subunit

INTERACTION

DNA	DNA binding

RNA

small molecule	metal binding,
	Zn2+
	Mg2+

protein

interacting with MYO1C

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AFD3 , NDCFL , ACCAL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function compromises rDNA transcription, one of the rate-limiting steps in the process of ribosome biogenesis constitutional germinal mutation       causes leukodystrophy, affecting protein homeostasis 4)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS