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Gene

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

Summary

Cytogenetic location
12q13.13
Coordinates
Chromosome 12: 54,280,726–54,287,087 (GRCh38)
Exons
11 exons across 6.4 kb
Protein
372 amino acids
Inheritance
Autosomal dominant
Also known as
hnRNP-A1, ALS20
Previous symbols
HNRPA1
MANE Select transcript
ENST00000340913.11NM_031157.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Distal Myopathies

    • VCP multisystem proteinopathy (inclusion body myopathy with Paget disease of bone and frontotemporal dementia)Autosomal dominant

      A condition caused by VCP variants that can combine adult-onset muscle weakness with Paget disease of bone and frontotemporal dementia.

      • 3 GenCC submitters rate it definitive or strong

  • Frontotemporal Dementia

    • Autosomal dominant

      Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How HNRNPA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where HNRNPA1 sits. HNRNPA1 and 23 genes near it on chromosome 12, from 53,783,907 to 54,783,906.Chromosome 1212q13.13p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3353.8 Mb54 Mb54.2 Mb54.4 Mb54.6 MbHOXC13: 53,938,718–53,946,544, forward strandHOXC13HOXC12: 53,954,903–53,958,956, forward strandHOXC11: 53,973,126–53,977,643, forward strandHOXC10: 53,985,065–53,990,279, forward strand: 53,985,845–54,034,888, forward strandHOXC6: 53,990,624–54,030,823, forward strandHOXC6HOXC9: 53,994,895–54,003,337, forward strandHOXC8: 54,008,911–54,012,769, forward strandHOXC8HOXC4: 54,015,897–54,056,030, forward strandHOXC4HOXC5: 54,033,048–54,035,361, forward strandHOXC5SMUG1: 54,121,277–54,189,008, reverse strandSMUG1CBX5: 54,230,942–54,280,141, reverse strandCBX5HNRNPA1: 54,280,726–54,287,087, forward strandHNRNPA1NFE2: 54,292,107–54,301,259, reverse strandNFE2COPZ1: 54,301,202–54,351,848, forward strandCOPZ1GPR84: 54,362,445–54,364,493, reverse strandGPR84ZNF385A: 54,369,129–54,391,338, reverse strandZNF385AITGA5: 54,395,261–54,419,515, reverse strandITGA5GTSF1: 54,455,950–54,473,602, reverse strandGTSF1NCKAP1L: 54,497,713–54,548,243, forward strandNCKAP1LPDE1B: 54,549,551–54,579,241, forward strandPDE1BPPP1R1A: 54,575,387–54,588,844, reverse strandPPP1R1ALACRT: 54,630,811–54,634,895, reverse strandLACRTDCD: 54,644,589–54,648,493, reverse strandDCDDiagram of HNRNPA1: 11 exons on the forward strand of chromosome 12Exon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 1: 54,280,726–54,280,822, 97 basesExon 2: 54,281,386–54,281,502, 117 basesExon 3: 54,281,795–54,281,941, 147 basesExon 4: 54,282,090–54,282,300, 211 basesExon 5: 54,282,394–54,282,486, 93 basesExon 6: 54,282,573–54,282,665, 93 basesExon 7: 54,282,800–54,282,874, 75 basesExon 8: 54,283,079–54,283,234, 156 basesExon 9: 54,283,812–54,283,967, 156 basesExon 10: 54,284,258–54,284,317, 60 basesExon 11: 54,284,549–54,287,087, 2,539 bases12345678910115′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 3.7 kb of the gene's 6.4 kb; 1,119 of those bases code for the protein.

How a genome test reads HNRNPA1

2

positions in HNRNPA1 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (100%) fall in regions short reads find hard.

  • Segmental duplications (2 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 6.4 kb of HNRNPA1, introns included, not only the 3.7 kb of exons.

Genes linked to the same conditions

Traits linked to HNRNPA1

The Human Phenotype Ontology lists these as features of the rare conditions HNRNPA1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the musculoskeletal system

Show 26 more traits

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 2026-10-16: 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.). HNRNPA1 gene: heterogeneous nuclear ribonucleoprotein A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hnrnpa1

Vancouver

Dante Labs. HNRNPA1 gene: heterogeneous nuclear ribonucleoprotein A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hnrnpa1

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