PRC1

protein regulator of cytokinesis 1

Basic information

Region (hg38): 15:90966040-90995629

Links

ENSG00000198901

∙ NCBI:9055 ∙ OMIM:603484 ∙ HGNC:9341 ∙ Uniprot:O43663 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRC1 gene.

not_specified (81 variants)
Familial_cancer_of_breast (3 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003981.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			79 clinvar	1 clinvar		80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRC1	protein_coding	protein_coding	ENST00000394249	15	29590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.68e-7	1.00	125684	0	64	125748	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.283	332	347	0.957	0.0000193	4066
Missense in Polyphen		72	90.638	0.79437		1163
Synonymous	-0.688	133	123	1.08	0.00000649	1149
Loss of Function	3.58	19	44.9	0.424	0.00000287	453

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000412	0.000412
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000273	0.000273
Middle Eastern	0.000163	0.000163
South Asian	0.000392	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). {ECO:0000269|PubMed:12082078, ECO:0000269|PubMed:15297875, ECO:0000269|PubMed:15625105, ECO:0000269|PubMed:16431929, ECO:0000269|PubMed:17409436, ECO:0000269|PubMed:19468300, ECO:0000269|PubMed:20691902, ECO:0000269|PubMed:9885575}.;
Pathway: Signal Transduction;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;TNFalpha;PLK1 signaling events (Consensus)

Recessive Scores

pRec: 0.155

Intolerance Scores

loftool: 0.934
rvis_EVS: -0.2
rvis_percentile_EVS: 39.11

Haploinsufficiency Scores

pHI: 0.681
hipred: Y
hipred_score: 0.715
ghis: 0.658

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.900

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Prc1
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: mitotic spindle elongation;microtubule bundle formation;positive regulation of cell population proliferation;regulation of cytokinesis;cell division
Cellular component: spindle pole;nucleus;spindle;cytosol;spindle microtubule;midbody;contractile ring
Molecular function: protein binding;microtubule binding;kinesin binding;protein kinase binding