Gene
SREBF1
sterol regulatory element binding transcription factor 1
- HGNC 11289↗(opens in a new tab)
- Ensembl gene ENSG00000072310↗(opens in a new tab)
- NCBI Gene 6720↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p11.2
- Coordinates
- Chromosome 17: 17,811,334–17,836,986 (GRCh38)
- Exons
- 19 exons across 25.7 kb
- Protein
- 1,147 amino acids
- Also known as
- SREBP1, bHLHd1, SREBP-1c, SREBP1a
- MANE Select transcript
- ENST00000261646.11NM_004176.5
- 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 SREBF1 yet. The test sequences your whole genome, so your data includes it all the same.
How SREBF1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.9 kb of the gene's 25.7 kb; 3,444 of those bases code for the protein.
How a genome test reads SREBF1
3
positions in SREBF1 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 25.7 kb of SREBF1, introns included, not only the 4.9 kb of exons.
Traits linked to SREBF1
The Human Phenotype Ontology lists these as features of the rare conditions SREBF1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Extreme sensitivity of the eyes to light
- Clouding of the lens of the eye
- Corneal inflammation
- Cross-eyed
- Blindness
- Increased tears
- Involuntary, rapid, rhythmic eye movements
- Inward turning cross eyed
Show 2 more traits
Abnormality of the integument
- Chicken skin
- Coarse hair
- Follicular hyperkeratosis
- Hair loss
- Sparse hair
- Ichthyosis follicularis
- Atrichia
- Atypical nail growth
Show 2 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.). SREBF1 gene: sterol regulatory element binding transcription factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/srebf1
Dante Labs. SREBF1 gene: sterol regulatory element binding transcription factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/srebf1
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