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Gene

PMFBP1

polyamine modulated factor 1 binding protein 1

Summary

Cytogenetic location
16q22.2
Coordinates
Chromosome 16: 72,119,097–72,172,155 (GRCh38)
Exons
21 exons across 53.1 kb
Protein
1,007 amino acids
MANE Select transcript
ENST00000237353.15NM_031293.3
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

  • Male Infertility

    • The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

      • 2 GenCC submitters rate it definitive or strong

How PMFBP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PMFBP1 sits. PMFBP1 and 12 genes near it on chromosome 16, from 71,645,626 to 72,645,625.Chromosome 1616q22.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.371.8 Mb72 Mb72.2 Mb72.4 Mb72.6 MbPHLPP2: 71,637,834–71,724,701, reverse strandPHLPP2AP1G1: 71,729,000–71,809,201, reverse strandAP1G1ATXN1L: 71,808,439–71,885,268, forward strandATXN1LIST1: 71,845,970–71,931,199, forward strandIST1ZNF821: 71,859,676–71,895,336, reverse strandZNF821PKD1L3: 71,929,538–72,000,402, reverse strandPKD1L3DHODH: 72,008,588–72,027,664, forward strandDHODH: 72,038,099–72,093,557, reverse strandHP: 72,054,478–72,061,071, forward strandHPHPR: 72,063,148–72,077,246, forward strandHPRTXNL4B: 72,084,853–72,094,431, reverse strandTXNL4BDHX38: 72,093,613–72,112,912, forward strandDHX38PMFBP1: 72,119,097–72,172,155, reverse strandPMFBP1Diagram of PMFBP1: 21 exons on the reverse strand of chromosome 16Exon 19: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 21: 72,119,097–72,119,354, 258 basesExon 20: 72,119,851–72,120,089, 239 basesExon 19: 72,122,914–72,122,988, 75 basesExon 18: 72,123,546–72,123,649, 104 basesExon 17: 72,124,767–72,124,934, 168 basesExon 16: 72,125,238–72,125,405, 168 basesExon 15: 72,125,968–72,126,132, 165 basesExon 14: 72,128,657–72,128,794, 138 basesExon 13: 72,129,066–72,129,233, 168 basesExon 12: 72,130,213–72,130,357, 145 basesExon 11: 72,130,533–72,130,722, 190 basesExon 10: 72,132,748–72,132,991, 244 basesExon 9: 72,136,448–72,136,605, 158 basesExon 8: 72,136,693–72,136,819, 127 basesExon 7: 72,139,289–72,139,399, 111 basesExon 6: 72,140,412–72,140,582, 171 basesExon 5: 72,150,608–72,150,829, 222 basesExon 4: 72,154,211–72,154,459, 249 basesExon 3: 72,164,764–72,164,916, 153 basesExon 2: 72,171,197–72,171,268, 72 basesExon 1: 72,172,054–72,172,155, 102 bases2115′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 3.4 kb of the gene's 53.1 kb; 3,024 of those bases code for the protein.

How a genome test reads PMFBP1

10

positions in PMFBP1 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 53.1 kb of PMFBP1, introns included, not only the 3.4 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.). PMFBP1 gene: polyamine modulated factor 1 binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pmfbp1

Vancouver

Dante Labs. PMFBP1 gene: polyamine modulated factor 1 binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pmfbp1

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