Gene
GUF1
GTP binding elongation factor GUF1
- HGNC 25799↗(opens in a new tab)
- Ensembl gene ENSG00000151806↗(opens in a new tab)
- NCBI Gene 60558↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p12
- Coordinates
- Chromosome 4: 44,678,420–44,700,928 (GRCh38)
- Exons
- 17 exons across 22.5 kb
- Protein
- 669 amino acids
- Also known as
- FLJ13220
- MANE Select transcript
- ENST00000281543.6NM_021927.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads GUF1 yet. The test sequences your whole genome, so your data includes it all the same.
How GUF1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 22.5 kb; 2,010 of those bases code for the protein.
How a genome test reads GUF1
2
positions in GUF1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 22.5 kb of GUF1, introns included, not only the 4.5 kb of exons.
Traits linked to GUF1
The Human Phenotype Ontology lists these as features of the rare conditions GUF1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Profound global developmental delay
- Hypsarrhythmia
- Infantile spasms
- Jerking
- Loss of developmental milestones
- Abnormality of the nervous system
- Choreoathetosis
- Decrease in size of the outer layer of the brain due to loss of brain cells
Show 5 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GUF1 gene: GTP binding elongation factor GUF1. Retrieved 17 October 2026, from https://dantelabs.com/genes/guf1
Dante Labs. GUF1 gene: GTP binding elongation factor GUF1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/guf1
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