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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GOLGB1
golgin B1
Chromosome 3 · 3q13.33
NCBI Gene: 2804Ensembl: ENSG00000173230.17HGNC: HGNC:4429UniProt: A0A8J9C4H3
137PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-Golgi intermediate compartmentprotein bindingmembraneGolgi apparatuscancerocular hypotensioncleft palate-lateral synechia syndromeatrial fibrillation
✦AI Summary

GOLGB1 (golgin B1) encodes a large coiled-coil protein called giantin that localizes to the Golgi membrane and plays crucial roles in Golgi organization and protein glycosylation 1. The protein functions in forming intercisternal cross-bridges of the Golgi complex and is essential for proper protein glycosylation processes 1. Mechanistically, GOLGB1 regulates hyaluronan accumulation and protein glycosylation in tissue development, particularly during palatal shelf elevation 1. Disease relevance of GOLGB1 is significant, as loss-of-function mutations cause cleft palate in mice through impaired protein glycosylation and reduced hyaluronan accumulation in palatal mesenchyme 1. The gene has been associated with multiple human conditions including bipolar disorder, where deficiency results in altered locomotor activity and mood-related behaviors through effects on PSD93 and PI3K/Akt signaling 2. Additionally, GOLGB1 variants are associated with dilated cardiomyopathy risk 3, hemorrhagic stroke susceptibility 4, and pulmonary arterial hypertension 5. Clinical significance extends to potential therapeutic applications, as GOLGB1 represents a candidate drug target for dilated cardiomyopathy treatment 3 and serves as a molecular marker in agricultural breeding programs 6.

Sources cited
1
GOLGB1 encodes giantin protein, localizes to Golgi membrane, essential for protein glycosylation and palate development
PMID: 27226319
2
GOLGB1 mutations associated with bipolar disorder, affects PSD93 and PI3K/Akt signaling
PMID: 36115840
3
GOLGB1 associated with dilated cardiomyopathy risk and potential therapeutic target
PMID: 41467369
4
GOLGB1 polymorphisms associated with hemorrhagic stroke susceptibility
PMID: 26664786
5
GOLGB1 identified as hub gene associated with pulmonary arterial hypertension
PMID: 40346622
6
GOLGB1 serves as molecular marker in chicken breeding programs
PMID: 32178328
Disease Associationsⓘ20
cancerOpen Targets
0.58Moderate
ocular hypotensionOpen Targets
0.21Weak
cleft palate-lateral synechia syndromeOpen Targets
0.10Weak
atrial fibrillationOpen Targets
0.09Suggestive
orofacial cleft 11Open Targets
0.09Suggestive
orofacial cleft 10Open Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
orofacial cleft 1Open Targets
0.08Suggestive
orofacial cleft 5Open Targets
0.08Suggestive
bifid uvulaOpen Targets
0.08Suggestive
cleft palateOpen Targets
0.08Suggestive
Ankyloblepharon filiforme adnatum - cleft palateOpen Targets
0.08Suggestive
ankyloblepharon filiforme adnatum-cleft palate syndromeOpen Targets
0.08Suggestive
cleft palate with or without ankyloglossia, X-linkedOpen Targets
0.08Suggestive
van der Woude syndrome 1Open Targets
0.07Suggestive
van der Woude syndromeOpen Targets
0.07Suggestive
congenital laryngomalaciaOpen Targets
0.07Suggestive
Robin sequence - oligodactylyOpen Targets
0.07Suggestive
Robin sequence-oligodactyly syndromeOpen Targets
0.07Suggestive
Ankyloblepharon filiforme - imperforate anusOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GOLGA8RShared pathway100%GOLGA8HShared pathway100%GOLGA8OShared pathway100%GOLGA8QShared pathway100%GOLGA8MShared pathway100%GOLGA6DShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
91%
Heart
69%
Liver
67%
Lung
64%
Brain
58%
Gene Interaction Network
Click a node to explore
GOLGB1GOLGA8RGOLGA8HGOLGA8OGOLGA8QGOLGA8MGOLGA6D
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14789
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.42 [0.36–0.50]
RankingsWhere GOLGB1 stands among ~20K protein-coding genes
  • #3,374of 20,598
    Most Researched137 · top quartile
  • #2,950of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedGOLGB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Novel 65-bp Indel in the
PMID: 32178328
Animals (Basel) · 2020
1.00
2
Knockdown of eIF3a alleviates pulmonary arterial hypertension by inhibiting endothelial-to-mesenchymal transition via TGFβ1/SMAD pathway.
PMID: 40346622
J Transl Med · 2025
0.90
3
Pedigree-based study to identify GOLGB1 as a risk gene for bipolar disorder.
PMID: 36115840
Transl Psychiatry · 2022
0.80
4
Potential Risk Factors and Therapeutic Targets for Dilated Cardiomyopathy Identified Through Mendelian Randomization Analysis.
PMID: 41467369
J Am Heart Assoc · 2026
0.70
5
Golgb1 regulates protein glycosylation and is crucial for mammalian palate development.
PMID: 27226319
Development · 2016
0.60