Gene
SERAC1
serine active site containing 1
- HGNC 21061↗(opens in a new tab)
- Ensembl gene ENSG00000122335↗(opens in a new tab)
- NCBI Gene 84947↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q25.3
- Coordinates
- Chromosome 6: 158,109,519–158,168,262 (GRCh38)
- Exons
- 17 exons across 58.7 kb
- Protein
- 654 amino acids
- Also known as
- FLJ14917
- MANE Select transcript
- ENST00000647468.2NM_032861.4
- 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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Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How SERAC1 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 3.9 kb of the gene's 58.7 kb; 1,965 of those bases code for the protein.
How a genome test reads SERAC1
49
positions in SERAC1 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 58.7 kb of SERAC1, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP5MKATP synthase membrane subunit kShares 1 condition
- BTDbiotinidaseShares 1 condition
- COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10Shares 1 condition
- DLATdihydrolipoamide S-acetyltransferaseShares 1 condition
- DLDdihydrolipoamide dehydrogenaseShares 1 condition
- EARS2glutamyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ECHS1enoyl-CoA hydratase, short chain 1Shares 1 condition
- ETHE1ETHE1 persulfide dioxygenaseShares 1 condition
- FARS2phenylalanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- FBXL4F-box and leucine rich repeat protein 4Shares 1 condition
- FOXRED1FAD dependent oxidoreductase domain containing 1Shares 1 condition
Traits linked to SERAC1
The Human Phenotype Ontology lists these as features of the rare conditions SERAC1 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- 3-Methylglutaconic aciduria
- Higher than normal levels of lactate in blood
- Increased lactate in body
- 3-Methylglutaric aciduria
- Increased blood alanine
- Low blood sugar in newborn
- Neonatal hyperbilirubinemia
- Decreased circulating cholesterol level
Show 3 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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). SERAC1 gene: serine active site containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/serac1
Dante Labs. SERAC1 gene: serine active site containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/serac1
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