Polr1a MGI Mouse Gene Detail - MGI:1096397 - polymerase (RNA) I polypeptide A

Symbol

Polr1a
Name

polymerase (RNA) I polypeptide A
Synonyms

194kDa, 2900087K15Rik, 3010014K16Rik, mRPA1, RPA194, Rpo1-4

Feature Type

protein coding gene
IDs

MGI:1096397
NCBI Gene: 20019
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr6:71886037-71956419 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 32.21 cM
Mapping Data

4 experiments

SNPs within 2kb

1209 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1096397	protein coding gene	Chr6:71886037-71961919 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030866	protein coding gene	Chr6:72417552-72491837 (+)
A/J	MGP_AJ_G0030836	protein coding gene	Chr6:69634832-69708160 (+)
AKR/J	MGP_AKRJ_G0030765	protein coding gene	Chr6:71651102-71723096 (+)
BALB/cJ	MGP_BALBcJ_G0030847	protein coding gene	Chr6:69658958-69730298 (+)
C3H/HeJ	MGP_C3HHeJ_G0030865	protein coding gene	Chr6:112525644-112599655 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031305	protein coding gene	Chr6:74320929-74397193 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028494	protein coding gene	Chr6:68796888-68865711 (+)
CAST/EiJ	MGP_CASTEiJ_G0029955	protein coding gene	Chr6:71523883-71596370 (+)
CBA/J	MGP_CBAJ_G0030534	protein coding gene	Chr6:77302728-77379389 (+)
DBA/2J	MGP_DBA2J_G0030686	protein coding gene	Chr6:69011006-69081151 (+)
FVB/NJ	MGP_FVBNJ_G0030639	protein coding gene	Chr6:68395442-68466278 (+)
LP/J	MGP_LPJ_G0030765	protein coding gene	Chr6:72336857-72414972 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030674	protein coding gene	Chr6:80764950-80838015 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031331	protein coding gene	Chr6:71473711-71551107 (+)
PWK/PhJ	MGP_PWKPhJ_G0029671	protein coding gene	Chr6:67912068-67983058 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029499	protein coding gene	Chr6:70196928-70269354 (+)
WSB/EiJ	MGP_WSBEiJ_G0030037	protein coding gene	Chr6:71833269-71904961 (+)

Human Ortholog

POLR1A, RNA polymerase I subunit A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

POLR1A, RNA polymerase I subunit A
Synonyms

A190, AFDCIN, HLD27, RPA1, RPA190, RPA194, RPO14, RPO1-4
Links

HGNC:17264

NCBI Gene ID: 25885

neXtProt AC: NX_O95602

UniProt: O95602
Chr Location

2p11.2; chr2:86020216-86106155 (-) GRCh38

MGI Vertebrate Homology

Polr1a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: POLR1A
Gene Tree

Polr1a

Diseases

1 with human POLR1A associations

				Human Disease	Mouse Models
				acrofacial dysostosis Cincinnati type IDs acrofacial dysostosis Cincinnati type DOID:0060353 OMIM:616462

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

12 phenotypes from 6 alleles in 7 genetic backgrounds
22 phenotypes from multigenic genotypes
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

32
Endonuclease-mediated

5
Gene trapped

21
Spontaneous

1
Targeted

5
Genomic Mutations

1 involving Polr1a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

93 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit failure of zygotic cell division, increased cell death, and complete embryonic lethality before implantation. Conditional KO in pre-migratory neural crest cells (NCCs) leads to craniofacial and cardiovascular abnormalities and is embryonic lethal. Conditional KO in migratory NCCs leads to craniofacial defects and is embryonic lethal. Conditional forebrain KO leads to telencephalon hypoplasia. Conditional cardiac KO leads to cardiovascular abnormalities.

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All GO Annotations

28
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

870
Tissues

144
cDNA Data

165
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA POLR1A

Xenbase polr1a

ZFIN polr1a

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All Sequences

73
RefSeq

4
UniProt

13
CCDS

CCDS20236.1

Ensembl

ENSMUSG00000049553 (Evidence)
NCBI Gene

20019

			Length	Strain/Species	Flank
genomic	20019	NCBI Gene Model \| MGI Sequence Detail	70383	C57BL/6J	± kb
transcript	NM_009088	RefSeq \| MGI Sequence Detail	6145	ZRU/MplStud
polypeptide	O35134	UniProt \| EBI \| MGI Sequence Detail	1717	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000012982 DNA-directed RNA polymerase I subunit RPA1

(term hierarchy)
EC

2.7.7.6
InterPro Domains

IPR047107 DNA-directed RNA pol I, largest subunit, C-terminal domain

IPR015699 DNA-directed RNA pol I, largest subunit, N-terminal domain

IPR045867 DNA-directed RNA polymerase, subunit beta-prime

IPR000722 RNA polymerase, alpha subunit

IPR006592 RNA polymerase, N-terminal

IPR044893 RNA polymerase Rpb1, clamp domain superfamily

IPR007080 RNA polymerase Rpb1, domain 1

IPR007066 RNA polymerase Rpb1, domain 3

IPR042102 RNA polymerase Rpb1, domain 3 superfamily

IPR007083 RNA polymerase Rpb1, domain 4

IPR007081 RNA polymerase Rpb1, domain 5

IPR038120 RNA polymerase Rpb1, funnel domain superfamily

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All nucleic 169

cDNA 168

Primer pair 1

Microarray probesets 7

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MGI:1920338, MGI:2441664

Summaries

All 55

Developmental Gene Expression 6

Gene Ontology 12

Phenotypes 17
Earliest

J:41855 Seither P, et al., Molecular cloning and characterization of the cDNA encoding the largest subunit of mouse RNA polymerase I. Mol Gen Genet. 1997 Jun;255(2):180-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Polr1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57047	Chr6:71886020-71886027 (+)	-13 bp
Tssr57048	Chr6:71886030-71886060 (+)	8 bp
Tssr57049	Chr6:71889218-71889236 (+)	3,190 bp
Tssr57050	Chr6:71903063-71903094 (+)	17,042 bp
Tssr57051	Chr6:71912992-71913024 (+)	26,971 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23