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Gene

MASP1

MBL associated serine protease 1

Summary

Cytogenetic location
3q27.3
Coordinates
Chromosome 3: 187,234,082–187,291,737 (GRCh38)
Exons
11 exons across 57.7 kb
Protein
728 amino acids
Also known as
MASP, Map44, MASP-3, MAP-1
Previous symbols
CRARF, PRSS5
MANE Select transcript
ENST00000296280.11NM_139125.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads MASP1 yet. The test sequences your whole genome, so your data includes it all the same.

How MASP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where MASP1 sits. MASP1 and 10 genes near it on chromosome 3, from 186,762,910 to 187,762,909.Chromosome 33q27.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29186.8 Mb187 Mb187.2 Mb187.4 Mb187.6 MbEIF4A2: 186,783,205–186,789,901, forward strandEIF4A2RFC4: 186,789,866–186,807,058, reverse strandRFC4ADIPOQ: 186,842,674–186,858,463, forward strandADIPOQST6GAL1: 186,930,325–187,078,932, forward strandST6GAL1RPL39L: 187,120,927–187,180,972, reverse strandRPL39LRTP1: 187,197,486–187,202,504, forward strandRTP1MASP1: 187,234,082–187,291,737, reverse strandMASP1RTP4: 187,368,368–187,372,076, forward strandRTP4SST: 187,668,856–187,670,401, reverse strandSSTRTP2: 187,698,259–187,702,656, reverse strandRTP2BCL6: 187,721,377–187,745,725, reverse strandBCL6Diagram of MASP1: 11 exons on the reverse strand of chromosome 3Exon 11: 5 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 11: 187,234,082–187,236,567, 2,486 basesExon 10: 187,241,481–187,241,555, 75 basesExon 9: 187,243,484–187,243,621, 138 basesExon 8: 187,250,251–187,250,329, 79 basesExon 7: 187,251,634–187,251,752, 119 basesExon 6: 187,253,168–187,253,315, 148 basesExon 5: 187,256,664–187,256,860, 197 basesExon 4: 187,260,741–187,260,872, 132 basesExon 3: 187,262,543–187,262,720, 178 basesExon 2: 187,285,825–187,286,056, 232 basesExon 1: 187,291,628–187,291,737, 110 bases11109876543215′3′

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 57.7 kb; 2,187 of those bases code for the protein.

How a genome test reads MASP1

13

positions in MASP1 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 57.7 kb of MASP1, introns included, not only the 3.9 kb of exons.

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

APA

Dante Labs. (n.d.). MASP1 gene: MBL associated serine protease 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/masp1

Vancouver

Dante Labs. MASP1 gene: MBL associated serine protease 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/masp1

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