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Gene

EFL1

elongation factor like GTPase 1

Summary

Cytogenetic location
15q25.2
Coordinates
Chromosome 15: 82,130,233–82,262,734 (GRCh38)
Exons
20 exons across 132.5 kb
Protein
1,120 amino acids
Also known as
FLJ13119, FAM42A, HsT19294, RIA1
Previous symbols
EFTUD1
MANE Select transcript
ENST00000268206.12NM_024580.6
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

  • Shwachman-Diamond Syndrome

    • A condition mainly caused by recessive changes in SBDS, and less often in EFL1 or other genes, featuring neutropenia, exocrine pancreatic insufficiency and skeletal changes, with an increased risk of bone marrow failure, myelodysplastic syndrome and acute myeloid leukaemia.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis allows pancreatic enzyme replacement and regular blood and bone marrow monitoring, and guides donor choice if stem cell transplantation is needed.

How EFL1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where EFL1 sits. EFL1 and 8 genes near it on chromosome 15, from 81,696,484 to 82,696,483.Chromosome 1515q25.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.381.8 Mb82 Mb82.2 Mb82.4 Mb82.6 MbMEX3B: 82,041,778–82,046,172, reverse strandMEX3BEFL1: 82,130,233–82,262,734, reverse strandEFL1SAXO2: 82,262,745–82,284,930, forward strandSAXO2GOLGA6L10: 82,339,993–82,349,475, reverse strandGOLGA6L10GOLGA6L9: 82,429,816–82,439,153, forward strandGOLGA6L9RPS17: 82,536,592–82,540,622, reverse strandRPS17: 82,536,788–82,573,194, reverse strandCPEB1: 82,543,201–82,648,861, reverse strandCPEB1AP3B2: 82,659,281–82,710,112, reverse strandAP3B2Diagram of EFL1: 20 exons on the reverse strand of chromosome 15Exon 20: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 20: 82,130,233–82,130,561, 329 basesExon 19: 82,138,658–82,138,842, 185 basesExon 18: 82,151,465–82,152,423, 959 basesExon 17: 82,157,713–82,157,860, 148 basesExon 16: 82,163,853–82,163,984, 132 basesExon 15: 82,214,717–82,214,855, 139 basesExon 14: 82,219,652–82,219,818, 167 basesExon 13: 82,220,078–82,220,229, 152 basesExon 12: 82,225,165–82,225,264, 100 basesExon 11: 82,227,450–82,227,572, 123 basesExon 10: 82,228,191–82,228,327, 137 basesExon 9: 82,229,034–82,229,110, 77 basesExon 8: 82,230,848–82,230,971, 124 basesExon 7: 82,238,307–82,238,521, 215 basesExon 6: 82,240,418–82,240,555, 138 basesExon 5: 82,241,270–82,241,403, 134 basesExon 4: 82,252,691–82,252,775, 85 basesExon 3: 82,259,088–82,259,155, 68 basesExon 2: 82,261,688–82,261,797, 110 basesExon 1: 82,262,614–82,262,734, 121 bases201510515′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 132.5 kb; 3,363 of those bases code for the protein.

How a genome test reads EFL1

6

positions in EFL1 where ClinVar classes a change as pathogenic or likely pathogenic

4 of them (67%) fall in regions short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (4 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 132.5 kb of EFL1, 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.). EFL1 gene: elongation factor like GTPase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/efl1

Vancouver

Dante Labs. EFL1 gene: elongation factor like GTPase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/efl1

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