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Gene

BMP1

bone morphogenetic protein 1

Summary

Cytogenetic location
8p21.3
Coordinates
Chromosome 8: 22,165,372–22,212,326 (GRCh38)
Exons
20 exons across 47 kb
Protein
986 amino acids
Also known as
BMP-1
Previous symbols
PCOLC
MANE Select transcript
ENST00000306385.10NM_006129.5
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 report relevant to this gene

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How BMP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where BMP1 sits. BMP1 and 25 genes near it on chromosome 8, from 21,688,849 to 22,688,848.Chromosome 88p21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.321.8 Mb22 Mb22.2 Mb22.4 Mb22.6 MbGFRA2: 21,690,398–21,812,370, reverse strandGFRA2DOK2: 21,907,461–21,913,960, reverse strandDOK2XPO7: 21,919,545–22,006,585, forward strandXPO7NPM2: 22,024,081–22,036,897, forward strandNPM2FGF17: 22,042,388–22,048,809, forward strandFGF17DMTN: 22,048,995–22,082,527, forward strandDMTNFHIP2B: 22,089,139–22,104,911, forward strandFHIP2BNUDT18: 22,101,008–22,109,444, reverse strandHR: 22,114,042–22,133,393, reverse strandHRURF: 22,130,458–22,131,010, reverse strandHRURFREEP4: 22,138,007–22,141,951, reverse strandREEP4LGI3: 22,146,824–22,157,084, reverse strandLGI3SFTPC: 22,156,913–22,164,479, forward strandSFTPCBMP1: 22,165,372–22,212,326, forward strandBMP1PHYHIP: 22,219,703–22,232,376, reverse strandPHYHIPPOLR3D: 22,245,078–22,254,601, forward strandPOLR3DPIWIL2: 22,275,310–22,358,580, forward strandPIWIL2SLC39A14: 22,366,727–22,434,129, forward strandSLC39A14PPP3CC: 22,440,746–22,544,727, forward strandPPP3CCSORBS3: 22,544,986–22,575,788, forward strandSORBS3PDLIM2: 22,578,058–22,598,025, forward strandPDLIM2: 22,589,274–22,602,084, forward strandC8orf58: 22,599,588–22,604,271, forward strandC8orf58CCAR2: 22,604,629–22,620,964, forward strandBIN3: 22,610,290–22,669,148, reverse strandEGR3: 22,687,659–22,693,480, reverse strandEGR3Diagram of BMP1: 20 exons on the forward strand of chromosome 8Exon 1: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 1: 22,165,372–22,165,553, 182 basesExon 2: 22,173,602–22,173,715, 114 basesExon 3: 22,176,143–22,176,313, 171 basesExon 4: 22,176,533–22,176,650, 118 basesExon 5: 22,176,961–22,177,139, 179 basesExon 6: 22,177,852–22,177,957, 106 basesExon 7: 22,179,705–22,179,829, 125 basesExon 8: 22,180,368–22,180,483, 116 basesExon 9: 22,192,049–22,192,151, 103 basesExon 10: 22,194,058–22,194,174, 117 basesExon 11: 22,194,445–22,194,590, 146 basesExon 12: 22,194,724–22,194,919, 196 basesExon 13: 22,195,462–22,195,587, 126 basesExon 14: 22,196,680–22,196,840, 161 basesExon 15: 22,197,240–22,197,420, 181 basesExon 16: 22,201,803–22,201,928, 126 basesExon 17: 22,206,854–22,206,981, 128 basesExon 18: 22,207,303–22,207,516, 214 basesExon 19: 22,209,445–22,209,695, 251 basesExon 20: 22,211,594–22,212,326, 733 bases151015205′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 3.6 kb of the gene's 47 kb; 2,961 of those bases code for the protein.

How a genome test reads BMP1

14

positions in BMP1 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 47 kb of BMP1, introns included, not only the 3.6 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.
  • 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

APA

Dante Labs. (n.d.). BMP1 gene: bone morphogenetic protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/bmp1

Vancouver

Dante Labs. BMP1 gene: bone morphogenetic protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bmp1

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