Gene
MBTPS1
membrane bound transcription factor peptidase, site 1
- HGNC 15456(opens in a new tab)
- Ensembl gene ENSG00000140943(opens in a new tab)
- NCBI Gene 8720(opens in a new tab)
Summary
- Cytogenetic location
- 16q23.3-q24.1
- Coordinates
- Chromosome 16: 84,053,763–84,116,942 (GRCh38)
- Exons
- 23 exons across 63.2 kb
- Protein
- 1,052 amino acids
- Also known as
- S1P, KIAA0091, SKI-1, PCSK8
- MANE Select transcript
- ENST00000343411.8NM_003791.4
- 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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No Genome Test report reads MBTPS1 yet. The test sequences your whole genome, so your data includes it all the same.
How MBTPS1 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 4.4 kb of the gene's 63.2 kb; 3,159 of those bases code for the protein.
How a genome test reads MBTPS1
6
positions in MBTPS1 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 63.2 kb of MBTPS1, introns included, not only the 4.4 kb of exons.
Traits linked to MBTPS1
The Human Phenotype Ontology lists these as features of the rare conditions MBTPS1 can cause. Each trait's page lists the other genes linked to it.
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.). MBTPS1 gene: membrane bound transcription factor peptidase, site 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mbtps1
Dante Labs. MBTPS1 gene: membrane bound transcription factor peptidase, site 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mbtps1
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