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Gene

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Summary

Cytogenetic location
Xp11.22
Coordinates
Chromosome X: 53,532,096–53,686,719 (GRCh38)
Exons
84 exons across 154.6 kb
Protein
4,374 amino acids
Also known as
Ib772, KIAA0312, UREB1
MANE Select transcript
ENST00000262854.11NM_031407.7
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 6 GenCC submitters rate it definitive or strong

    How HUWE1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome X, with a bracket where HUWE1 sits. HUWE1 and 8 genes near it on chromosome X, from 53,109,408 to 54,109,407.Chromosome XXp11.22p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2853.2 Mb53.4 Mb53.6 Mb53.8 Mb54 MbKANTR: 53,094,092–53,170,914, forward strandKANTRKDM5C: 53,176,277–53,225,422, reverse strandKDM5CIQSEC2: 53,225,828–53,321,396, reverse strandIQSEC2SMC1A: 53,361,522–53,422,750, reverse strandSMC1ARIBC1: 53,421,951–53,431,624, forward strandRIBC1HSD17B10: 53,431,258–53,434,403, reverse strandHSD17B10HUWE1: 53,532,096–53,686,719, reverse strandHUWE1PHF8: 53,934,245–54,048,958, reverse strandPHF8FAM120C: 54,068,324–54,183,581, reverse strandFAM120CDiagram of HUWE1: 84 exons on the reverse strand of chromosome XExon 83: 2 known disease-causing sitesExon 82: 5 known disease-causing sitesExon 81: 3 known disease-causing sitesExon 80: 1 known disease-causing siteExon 79: 8 known disease-causing sitesExon 78: 3 known disease-causing sitesExon 67: 3 known disease-causing sitesExon 65: 1 known disease-causing siteExon 64: 2 known disease-causing sitesExon 49: 2 known disease-causing sitesExon 47: 3 known disease-causing sitesExon 34: 2 known disease-causing sitesExon 28: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 84: 53,532,096–53,533,411, 1,316 basesExon 83: 53,534,007–53,534,197, 191 basesExon 82: 53,534,516–53,534,697, 182 basesExon 81: 53,535,384–53,535,501, 118 basesExon 80: 53,536,147–53,536,252, 106 basesExon 79: 53,536,380–53,536,667, 288 basesExon 78: 53,537,556–53,537,696, 141 basesExon 77: 53,538,337–53,538,454, 118 basesExon 76: 53,538,835–53,539,080, 246 basesExon 75: 53,539,657–53,539,812, 156 basesExon 74: 53,542,443–53,542,539, 97 basesExon 73: 53,543,841–53,543,968, 128 basesExon 72: 53,544,560–53,544,762, 203 basesExon 71: 53,545,029–53,545,161, 133 basesExon 70: 53,546,436–53,546,592, 157 basesExon 69: 53,546,704–53,546,825, 122 basesExon 68: 53,547,673–53,548,273, 601 basesExon 67: 53,548,959–53,549,505, 547 basesExon 66: 53,550,666–53,550,768, 103 basesExon 65: 53,550,901–53,551,189, 289 basesExon 64: 53,551,266–53,551,480, 215 basesExon 63: 53,552,311–53,552,441, 131 basesExon 62: 53,552,638–53,552,893, 256 basesExon 61: 53,554,633–53,554,920, 288 basesExon 60: 53,557,382–53,557,427, 46 basesExon 59: 53,558,655–53,558,809, 155 basesExon 58: 53,558,971–53,559,060, 90 basesExon 57: 53,559,354–53,559,532, 179 basesExon 56: 53,560,188–53,560,416, 229 basesExon 55: 53,561,756–53,561,924, 169 basesExon 54: 53,562,111–53,562,244, 134 basesExon 53: 53,562,831–53,562,929, 99 basesExon 52: 53,563,746–53,563,821, 76 basesExon 51: 53,564,574–53,564,722, 149 basesExon 50: 53,565,067–53,565,239, 173 basesExon 49: 53,568,692–53,568,874, 183 basesExon 48: 53,569,616–53,569,827, 212 basesExon 47: 53,573,750–53,573,964, 215 basesExon 46: 53,575,155–53,575,221, 67 basesExon 45: 53,575,643–53,575,788, 146 basesExon 44: 53,576,900–53,577,067, 168 basesExon 43: 53,580,831–53,581,026, 196 basesExon 42: 53,583,558–53,583,916, 359 basesExon 41: 53,584,186–53,584,345, 160 basesExon 40: 53,585,012–53,585,188, 177 basesExon 39: 53,586,490–53,586,571, 82 basesExon 38: 53,586,782–53,586,909, 128 basesExon 37: 53,588,382–53,588,534, 153 basesExon 36: 53,589,547–53,589,816, 270 basesExon 35: 53,590,404–53,590,499, 96 basesExon 34: 53,591,000–53,591,122, 123 basesExon 33: 53,592,398–53,592,628, 231 basesExon 32: 53,593,364–53,593,601, 238 basesExon 31: 53,594,499–53,594,621, 123 basesExon 30: 53,595,187–53,595,403, 217 basesExon 29: 53,600,118–53,600,309, 192 basesExon 28: 53,602,564–53,602,658, 95 basesExon 27: 53,603,368–53,603,501, 134 basesExon 26: 53,604,589–53,604,834, 246 basesExon 25: 53,607,523–53,607,699, 177 basesExon 24: 53,608,852–53,608,909, 58 basesExon 23: 53,614,534–53,614,745, 212 basesExon 22: 53,615,744–53,615,835, 92 basesExon 21: 53,616,970–53,617,147, 178 basesExon 20: 53,617,340–53,617,446, 107 basesExon 19: 53,624,595–53,624,675, 81 basesExon 18: 53,625,157–53,625,258, 102 basesExon 17: 53,627,410–53,627,515, 106 basesExon 16: 53,627,739–53,627,879, 141 basesExon 15: 53,628,493–53,628,620, 128 basesExon 14: 53,628,752–53,628,902, 151 basesExon 13: 53,629,516–53,629,616, 101 basesExon 12: 53,630,935–53,631,034, 100 basesExon 11: 53,631,414–53,631,482, 69 basesExon 10: 53,631,567–53,631,614, 48 basesExon 9: 53,632,487–53,632,564, 78 basesExon 8: 53,634,236–53,634,298, 63 basesExon 7: 53,645,311–53,645,463, 153 basesExon 6: 53,647,368–53,647,574, 207 basesExon 5: 53,648,212–53,648,310, 99 basesExon 4: 53,654,063–53,654,131, 69 basesExon 3: 53,680,049–53,680,186, 138 basesExon 2: 53,686,270–53,686,368, 99 basesExon 1: 53,686,588–53,686,719, 132 bases8475502515′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 14.7 kb of the gene's 154.6 kb; 13,125 of those bases code for the protein.

    How a genome test reads HUWE1

    48

    positions in HUWE1 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 154.6 kb of HUWE1, introns included, not only the 14.7 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.). HUWE1 gene: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/huwe1

    Vancouver

    Dante Labs. HUWE1 gene: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/huwe1

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