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Gene

MAP3K1

mitogen-activated protein kinase kinase kinase 1

Summary

Cytogenetic location
5q11.2
Coordinates
Chromosome 5: 56,815,549–56,896,152 (GRCh38)
Exons
20 exons across 80.6 kb
Protein
1,512 amino acids
Also known as
MEKK, MAPKKK1
Previous symbols
MEKK1
MANE Select transcript
ENST00000399503.4NM_005921.2
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY complete gonadal dysgenesis (Swyer syndrome)

      A condition in which people with XY chromosomes have undeveloped streak gonads and a female appearance, caused by variants in SRY, NR5A1, MAP3K1, DHH and other genes.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Streak gonads carry a high risk of gonadoblastoma, so removal is usually recommended, and hormone replacement is needed for puberty.

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

How MAP3K1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
Chromosome 5, with a bracket where MAP3K1 sits. MAP3K1 and 3 genes near it on chromosome 5, from 56,355,851 to 57,355,850.Chromosome 55q11.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.356.4 Mb56.6 Mb56.8 Mb57 Mb57.2 MbMAP3K1: 56,815,549–56,896,152, forward strandMAP3K1SETD9: 56,909,260–56,926,521, forward strandSETD9MIER3: 56,919,602–56,971,675, reverse strandMIER3GPBP1: 57,173,821–57,265,668, forward strandGPBP1Diagram of MAP3K1: 20 exons on the forward strand of chromosome 5Exon 1: 56,815,549–56,816,055, 507 basesExon 2: 56,856,600–56,856,750, 151 basesExon 3: 56,859,715–56,859,915, 201 basesExon 4: 56,864,734–56,864,934, 201 basesExon 5: 56,865,340–56,865,456, 117 basesExon 6: 56,865,829–56,865,977, 149 basesExon 7: 56,871,910–56,872,031, 122 basesExon 8: 56,872,641–56,872,722, 82 basesExon 9: 56,872,825–56,873,005, 181 basesExon 10: 56,875,032–56,875,310, 279 basesExon 11: 56,878,980–56,879,101, 122 basesExon 12: 56,880,711–56,880,802, 92 basesExon 13: 56,881,083–56,881,272, 190 basesExon 14: 56,881,570–56,882,866, 1,297 basesExon 15: 56,883,527–56,883,679, 153 basesExon 16: 56,884,664–56,884,826, 163 basesExon 17: 56,885,932–56,886,063, 132 basesExon 18: 56,887,378–56,887,520, 143 basesExon 19: 56,888,226–56,888,357, 132 basesExon 20: 56,893,531–56,896,152, 2,622 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 7 kb of the gene's 80.6 kb; 4,539 of those bases code for the protein.

Genes linked to the same conditions

Traits linked to MAP3K1

The Human Phenotype Ontology lists these as features of the rare conditions MAP3K1 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-e609d43e.

Cite this page

APA

Dante Labs. (n.d.). MAP3K1 gene: mitogen-activated protein kinase kinase kinase 1. Retrieved 18 October 2026, from https://dantelabs.com/genes/map3k1

Vancouver

Dante Labs. MAP3K1 gene: mitogen-activated protein kinase kinase kinase 1 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/map3k1

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