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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRRC1
proline rich coiled-coil 1
Chromosome 5 · 5q23.2
NCBI Gene: 133619Ensembl: ENSG00000164244.22HGNC: HGNC:28164UniProt: Q96M27
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein kinase A regulatory subunit bindingepithelial structure maintenancecytoplasmesophageal ulcerspermatoceleDermatochalasisplacenta praevia
✦AI Summary

PRRC1 (proline rich coiled-coil 1) is a cytosolic regulator of vesicular trafficking in the secretory pathway. Primary function: PRRC1 functions as an accessory factor essential for AP-4-mediated transport at the trans-Golgi network (TGN), operating independently of clathrin-dependent mechanisms 1. Mechanism: PRRC1 contains proline-rich domains and is recruited to endoplasmic reticulum (ER) exit sites where it interacts with the inner COPII coat to regulate anterograde trafficking 2. PRRC1 also interacts and colocalizes with MUC5AC in the Golgi, suggesting involvement in glycoprotein processing 3. Disease relevance: PRRC1 has been identified as a partner gene in MLL rearrangements associated with secondary acute lymphoblastic leukemia (sALL) following topoisomerase II inhibitor therapy 4. Additionally, PRRC1 shows significant association with fluid intelligence through genetic variation and gene methylation analysis 5. Clinical significance: Understanding PRRC1's role in vesicular trafficking and glycosylation may inform strategies targeting tumor progression pathways, particularly in lung adenocarcinoma where PRRC1-mediated MUC5AC modifications contribute to angiogenesis and metastasis 3.

Sources cited
1
PRRC1 is a cytosolic regulator essential for AP-4-mediated TGN export
PMID: 41032520
2
PRRC1 contains proline-rich domains, is recruited to ER exit sites, interacts with COPII coat, and regulates anterograde trafficking
PMID: 34433667
3
PRRC1 interacts and colocalizes with MUC5AC in the Golgi, with potential role in MUC5AC glycosylation related to tumor angiogenesis and metastasis
PMID: 40371640
4
PRRC1 identified as MLL partner gene in secondary acute lymphoblastic leukemia following topoisomerase II inhibitor therapy
PMID: 25205603
5
PRRC1 region on chromosome 5 shows significant association with fluid intelligence and gene methylation support
PMID: 24349040
Disease Associationsⓘ20
esophageal ulcerOpen Targets
0.29Weak
spermatoceleOpen Targets
0.13Weak
DermatochalasisOpen Targets
0.09Suggestive
placenta praeviaOpen Targets
0.05Suggestive
cellulitisOpen Targets
0.03Suggestive
abscessOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
retinopathyOpen Targets
0.03Suggestive
retinoschisisOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
PhlebitisOpen Targets
0.02Suggestive
ThrombophlebitisOpen Targets
0.02Suggestive
thyroid diseaseOpen Targets
0.02Suggestive
lymphatic system diseaseOpen Targets
0.02Suggestive
Abnormality of the integumentOpen Targets
0.02Suggestive
skin and soft tissue Staphylococcus aureus infectionOpen Targets
0.02Suggestive
response to antipsychotic drugOpen Targets
0.02Suggestive
chronic venous insufficiencyOpen Targets
0.02Suggestive
Varicose veinsOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEC24CProtein interaction80%SEC23AProtein interaction80%CRACDShared pathway33%LSRShared pathway25%FREM1Shared pathway25%FREM3Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
78%
Ovary
65%
Heart
58%
Brain
55%
Lung
55%
Gene Interaction Network
Click a node to explore
PRRC1SEC24CSEC23ACRACDLSRFREM1FREM3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96M27
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.14]
RankingsWhere PRRC1 stands among ~20K protein-coding genes
  • #10,059of 20,598
    Most Researched41
  • #11,816of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedPRRC1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
ST6GalNAc-I regulates tumor cell sialylation via NECTIN2/MUC5AC-mediated immunosuppression and angiogenesis in non-small cell lung cancer.
PMID: 40371640
J Clin Invest · 2025
1.00
2
Uncovering cargo clients and accessory factors of AP-1 and AP-4 through vesicle proteomics.
PMID: 41032520
Proc Natl Acad Sci U S A · 2025
0.80
3
MLL partner genes in secondary acute lymphoblastic leukemia: report of a new partner PRRC1 and review of the literature.
PMID: 25205603
Leuk Res · 2014
0.60
4
Complex variation in measures of general intelligence and cognitive change.
PMID: 24349040
PLoS One · 2013
0.40
5
An in vitro vesicle formation assay reveals cargo clients and factors that mediate vesicular trafficking.
PMID: 34433667
Proc Natl Acad Sci U S A · 2021
0.20