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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POC1A
POC1 centriolar protein A
Chromosome 3 Β· 3p21.2
NCBI Gene: 25886Ensembl: ENSG00000164087.9HGNC: HGNC:24488UniProt: Q8NBT0
34PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingciliary basal bodyspindle polecentrosomeshort stature-onychodysplasia-facial dysmorphism-hypotrichosis syndromeisolated growth hormone deficiency type IAPrimary microcephalyautosomal recessive primary microcephaly
✦AI Summary

POC1A (POC1 centriolar protein A) is a WD-repeat centriolar protein essential for centriole assembly, stability, and ciliogenesis 1. It functions as part of an inner scaffold complex within the centriole lumen, where POC1A-POC1B heterodimers organize an interaction network involving POC5 and FAM161A proteins that maintains centriolar integrity 2. POC1A plays redundant but essential roles with POC1B in generating stable centrioles and ensuring proper mitotic spindle formation; depletion of both proteins leads to defects in spindle organization and prevents nascent centriole maturation 1. Pathogenic biallelic POC1A variants cause SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, hypoTrichosis), a primordial dwarfism characterized by severe prenatal growth failure 3. Disease mechanisms include impaired ciliogenesis, adipocyte dysfunction, cellular senescence, and insulin/IGF-1 resistance leading to metabolic abnormalities including hyperinsulinemia, diabetes, and hepatic steatosis 4. Clinically, POC1A is upregulated in multiple cancers including lung adenocarcinoma and hepatocellular carcinoma, where high expression correlates with poor prognosis, late-stage disease, and altered immune cell infiltration 56. Pan-cancer analysis shows POC1A involvement in cell-cycle and immune-related pathways, making it a potential prognostic biomarker and therapeutic target 7.

Sources cited
1
POC1A (POC1 centriolar protein A) is a WD-repeat centriolar protein essential for centriole assembly, stability, and ciliogenesis .
PMID: 23015594
2
It functions as part of an inner scaffold complex within the centriole lumen, where POC1A-POC1B heterodimers organize an interaction network involving POC5 and FAM161A proteins that maintains centriolar integrity .
PMID: 39543170
3
Pathogenic biallelic POC1A variants cause SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, hypoTrichosis), a primordial dwarfism characterized by severe prenatal growth failure .
PMID: 39662966
4
Disease mechanisms include impaired ciliogenesis, adipocyte dysfunction, cellular senescence, and insulin/IGF-1 resistance leading to metabolic abnormalities including hyperinsulinemia, diabetes, and hepatic steatosis .
PMID: 38245004
5
Pan-cancer analysis shows POC1A involvement in cell-cycle and immune-related pathways, making it a potential prognostic biomarker and therapeutic target .
PMID: 35748773
Disease Associationsβ“˜21
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndromeOpen Targets
0.78Strong
isolated growth hormone deficiency type IAOpen Targets
0.51Moderate
autosomal recessive primary microcephalyOpen Targets
0.37Weak
Fanconi anemia complementation group QOpen Targets
0.37Weak
Primary microcephalyOpen Targets
0.37Weak
Non-acquired isolated growth hormone deficiencyOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Insulin resistanceOpen Targets
0.19Weak
microcephalyOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
focal segmental glomerulosclerosisOpen Targets
0.06Suggestive
Hydatidiform MoleOpen Targets
0.06Suggestive
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisUniProt
Pathogenic Variants27
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)Pathogenic
not provided|Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 217
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)Pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome|not provided|Ateleiotic dwarfism
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_015426.5(POC1A):c.689_696del (p.Ala230fs)Pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 230
NM_015426.5(POC1A):c.1A>G (p.Met1Val)Pathogenic
not provided|Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_015426.5(POC1A):c.893G>A (p.Trp298Ter)Likely pathogenic
See cases|POC1A-related disorder|Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 298
NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)Pathogenic
not provided|Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 243
NM_015426.5(POC1A):c.53del (p.His18fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 18
NM_015426.5(POC1A):c.814-4_814-2delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_015426.5(POC1A):c.104-2delLikely pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†2024
NM_015426.5(POC1A):c.483_484del (p.Ser162fs)Likely pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 162
NM_015426.5(POC1A):c.2T>C (p.Met1Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_015426.5(POC1A):c.104-2A>CLikely pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†2023
NM_015426.5(POC1A):c.276-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_015426.5(POC1A):c.882+1G>ALikely pathogenic
not provided|Cervical cancer
β˜…β˜†β˜†β˜†2022
NM_015426.5(POC1A):c.667_668dup (p.Gln223fs)Pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 223
NM_015426.5(POC1A):c.707_708del (p.Ser236fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 236
NM_015426.5(POC1A):c.64G>T (p.Val22Phe)Likely pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†2017β†’ Residue 22
NM_015426.5(POC1A):c.370G>A (p.Asp124Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 124
NM_015426.5(POC1A):c.80_81insA (p.Phe27fs)Pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†β†’ Residue 27
NM_015426.5(POC1A):c.55C>T (p.Arg19Ter)Likely pathogenic
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
β˜…β˜†β˜†β˜†β†’ Residue 19
View on ClinVar β†—
Related Genes
CIBAR2Shared pathway100%CFAP184Shared pathway100%HYLS1Shared pathway100%LRRC45Shared pathway100%WDR90Shared pathway100%PTPDC1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
44%
Liver
41%
Lung
18%
Heart
10%
Ovary
6%
Gene Interaction Network
Click a node to explore
POC1ACIBAR2CFAP184HYLS1LRRC45WDR90PTPDC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NBT0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.99LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.52–0.99]
RankingsWhere POC1A stands among ~20K protein-coding genes
  • #11,212of 20,598
    Most Researched34
  • #1,918of 5,498
    Most Pathogenic Variants27
  • #9,473of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedPOC1A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Poc1A and Poc1B act together in human cells to ensure centriole integrity.
PMID: 23015594
J Cell Sci Β· 2013
1.00
2
An interaction network of inner centriole proteins organised by POC1A-POC1B heterodimer crosslinks ensures centriolar integrity.
PMID: 39543170
Nat Commun Β· 2024
0.90
3
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
PMID: 26162852
Hum Mol Genet Β· 2015
0.80
4
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
PMID: 39662966
Clin Genet Β· 2025
0.70
5
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
PMID: 38245004
Eur J Endocrinol Β· 2024
0.60