Gene
HTRA1
HtrA serine peptidase 1
- HGNC 9476(opens in a new tab)
- Ensembl gene ENSG00000166033(opens in a new tab)
- NCBI Gene 5654(opens in a new tab)
Summary
- Cytogenetic location
- 10q26.13
- Coordinates
- Chromosome 10: 122,461,553–122,514,907 (GRCh38)
- Exons
- 9 exons across 53.4 kb
- Protein
- 480 amino acids
- Also known as
- HtrA, IGFBP5-protease, ARMD7
- Previous symbols
- PRSS11
- MANE Select transcript
- ENST00000368984.8NM_002775.5
- 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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Get my Genome TestCurated report relevant to this gene
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- 4 GenCC submitters rate it definitive or strong
What knowing changes
CADASIL: aggressive BP control, avoid anticoagulation/thrombolysis, migraine prophylaxis (avoid triptans), cognitive rehabilitation; Fabry: ERT (agalsidase), migalastat; COL4A1: BP control, avoid contact sports; genetic counseling
How HTRA1 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 2.1 kb of the gene's 53.4 kb; 1,443 of those bases code for the protein.
How a genome test reads HTRA1
29
positions in HTRA1 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 53.4 kb of HTRA1, introns included, not only the 2.1 kb of exons.
Traits linked to HTRA1
The Human Phenotype Ontology lists these as features of the rare conditions HTRA1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Abnormal pyramidal sign
- Anxiety
- Brain degeneration
- Delusions
- Difficulty finding words
- Diffuse white matter abnormalities
- Gait apraxia
Show 32 more traits
- Hallucinations
- Hyperintensity of cerebral white matter on MRI
- Lack of coordination of movement
- Leukoencephalopathy
- Pseudobulbar signs
- Dementia
- Status cribrosum
- Behavioral abnormality
- Cognitive impairment
- Deep cerebral white matter hyperintensities
- Spastic ataxia
- Abulia
- Aggressive behavior
- Akinetic mutism
- Can't control feelings
- Diffuse cerebral atrophy
- Epilepsy
- Headache
- Irritability
- Lack of feeling, emotion, interest
- Mental deterioration
- Somatic sensory dysfunction
- Weakness of one side of body
- Grand mal seizures
- Abnormality of extrapyramidal motor function
- Ataxia
- Babinski sign
- Difficulty articulating speech
- Diffuse demyelination of the cerebral white matter
- Increased reflexes
- Progressive brain disease
- Recurrent subcortical infarcts
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.). HTRA1 gene: HtrA serine peptidase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/htra1
Dante Labs. HTRA1 gene: HtrA serine peptidase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/htra1
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