GOLGB1

protein-coding

golgin B1, the group of Golgins

Gene summary

Enables RNA binding activity. Involved in protein localization to pericentriolar material. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001366282.2

Inheritance

—

ClinVar variants

U:401B:29

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr3:121,663,199-121,749,966

External References & Databases

Ensembl (ENSG00000173230)

Transcript & Mutation Effects

hg38 • Region Span ~86.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GOLGB1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 407

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001366282.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	6 clinvar		10
missense			393 clinvar	21 clinvar	2 clinvar	416
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	401	27	2	430

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 81 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001366282.2	RefSeq	NP_001353211.1	21	MANE Select
ENST00000614479.5	Ensembl	ENSP00000484083.2	21	MANE Select
NM_001256486.2	RefSeq	NP_001243415.1	21	Standard
NM_001256487.2	RefSeq	NP_001243416.1	20	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
golgb1	Danio rerio	Structure: ciliated olfactory receptor neuron Quality: malformed abnormal

Gene / Model

Organism

Observed Phenotype

golgb1

Danio rerio

Structure: ciliated olfactory receptor neuron

Quality: malformed

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Golgi Associated Vesicle Biogenesis
Clathrin derived vesicle budding
trans-Golgi Network Vesicle Budding
Vesicle-mediated transport
Membrane Trafficking

Biological Process

regulation of transcription, DNA-templated
endoplasmic reticulum to Golgi vesicle-mediated transport
Golgi organization
protein localization to pericentriolar material

Molecular Function

DNA-binding transcription factor activity
RNA binding
protein binding
sequence-specific DNA binding

Cellular Component

Golgi membrane
endoplasmic reticulum-Golgi intermediate compartment
Golgi apparatus
Golgi stack
cis-Golgi network

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000393667
Coding exons: 21
Length: 86557
Individuals with no LoFs: 125615
Homozygous LoFs: 0
Heterozygous LoFs: 133
Defined: 125748
p: 0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.29	1397	1.54e+3	0.907	0.0000748	21823
Missense (PolyPhen)		383	469.53	0.8157		7256
Synonymous	0.551	554	571	0.971	0.0000278	5782
Loss of Function	7.48	48	145	0.330	0.00000734	1875

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00048	0.00046	rare
Ashkenazi Jewish	0.00042	0.00040	rare
East Asian	0.00099	0.00092	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00047	0.00047	rare
South Asian	0.00063	0.00052	rare
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May participate in forming intercisternal cross-bridges of the Golgi complex.;

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.841
RVIS EVS: -0.21
RVIS percentile EVS: 37.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.263

Gene Damage Prediction

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