PRC1

protein regulator of cytokinesis 1

Basic information

Region (hg38): 15:90966039-90995629

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.

• Inborn genetic diseases (26 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	26	0	0

Variants in PRC1

This is a list of pathogenic ClinVar variants found in the PRC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-90966212-C-A		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90966362-T-C		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90966398-C-T		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90966504-A-G		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90966690-G-T		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90966789-T-C		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90967192-G-A		not specified	Uncertain significance (Feb 28, 2023)
15-90968030-A-G		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90969115-A-C		not specified	Uncertain significance (Sep 12, 2023)
15-90969457-G-A		not specified	Uncertain significance (Jan 03, 2022)
15-90969493-C-T		not specified	Uncertain significance (Sep 14, 2022)
15-90969524-C-A		not specified	Uncertain significance (Feb 10, 2022)
15-90969539-C-T		not specified	Uncertain significance (Aug 22, 2023)
15-90969561-G-C		not specified	Uncertain significance (Oct 17, 2023)
15-90969577-C-T		not specified	Uncertain significance (Oct 05, 2023)
15-90970417-G-A		not specified	Uncertain significance (Nov 29, 2023)
15-90970423-A-C		not specified	Uncertain significance (Jan 08, 2024)
15-90970426-C-T		not specified	Uncertain significance (May 26, 2023)
15-90970433-C-T		not specified	Uncertain significance (Apr 26, 2023)
15-90970444-T-C		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
15-90970469-G-A		not specified	Uncertain significance (Feb 17, 2022)
15-90970480-T-C		not specified	Uncertain significance (Feb 27, 2024)
15-90971530-C-T		Breast carcinoma	association (Feb 01, 2014)
15-90974174-G-C		not specified	Uncertain significance (Feb 07, 2023)
15-90974191-C-T		not specified	Uncertain significance (Jun 17, 2022)

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