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Gene

HAX1

HCLS1 associated protein X-1

Summary

Cytogenetic location
1q21.3
Coordinates
Chromosome 1: 154,272,629–154,275,875 (GRCh38)
Exons
7 exons across 3.2 kb
Protein
279 amino acids
Also known as
HS1BP1, HCLSBP1, HAX-1
MANE Select transcript
ENST00000328703.12NM_006118.4
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

How HAX1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where HAX1 sits. HAX1 and 26 genes near it on chromosome 1, from 153,774,252 to 154,774,251.Chromosome 11q21.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44153.8 Mb154 Mb154.2 Mb154.4 Mb154.6 MbINTS3: 153,728,050–153,774,808, forward strandINTS3SLC27A3: 153,774,208–153,780,180, forward strandSLC27A3GATAD2B: 153,789,030–153,923,360, reverse strandGATAD2BDENND4B: 153,928,862–153,946,749, reverse strandCRTC2: 153,947,669–153,958,642, reverse strandSLC39A1: 153,959,099–153,968,667, reverse strand: 153,959,151–153,975,887, reverse strandCREB3L4: 153,963,719–153,974,366, forward strandJTB: 153,974,269–153,978,011, reverse strand: 153,975,850–153,986,246, reverse strandRAB13: 153,981,617–153,986,382, reverse strandRAB13RPS27: 153,990,749–153,992,344, forward strandRPS27NUP210L: 153,992,690–154,155,116, reverse strandNUP210LTPM3: 154,155,308–154,194,648, reverse strandTPM3CFAP141: 154,199,085–154,206,352, reverse strandCFAP141LTAP1: 154,206,666–154,220,686, reverse strandLTAP1UBAP2L: 154,220,172–154,271,510, forward strandUBAP2LHAX1: 154,272,629–154,275,875, forward strandHAX1AQP10: 154,321,090–154,325,329, forward strandAQP10ATP8B2: 154,325,511–154,351,307, forward strandATP8B2IL6R: 154,405,141–154,469,450, forward strandIL6RSHE: 154,469,637–154,502,866, reverse strandSHETDRD10: 154,501,508–154,548,147, forward strandTDRD10UBE2Q1: 154,548,550–154,559,028, reverse strandUBE2Q1CHRNB2: 154,567,771–154,580,013, forward strandCHRNB2ADAR: 154,581,695–154,628,013, reverse strandADARKCNN3: 154,697,455–154,870,340, reverse strandKCNN3Diagram of HAX1: 7 exons on the forward strand of chromosome 1Exon 1: 3 known disease-causing sitesExon 2: 19 known disease-causing sitesExon 3: 15 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 1: 154,272,629–154,272,776, 148 basesExon 2: 154,273,336–154,273,598, 263 basesExon 3: 154,273,774–154,273,961, 188 basesExon 4: 154,274,950–154,275,001, 52 basesExon 5: 154,275,154–154,275,260, 107 basesExon 6: 154,275,393–154,275,483, 91 basesExon 7: 154,275,616–154,275,875, 260 bases12345675′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 1.1 kb of the gene's 3.2 kb; 840 of those bases code for the protein.

How a genome test reads HAX1

53

positions in HAX1 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 3.2 kb of HAX1, introns included, not only the 1.1 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.). HAX1 gene: HCLS1 associated protein X-1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hax1

Vancouver

Dante Labs. HAX1 gene: HCLS1 associated protein X-1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hax1

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