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Gene

RAI1

retinoic acid induced 1

Summary

Cytogenetic location
17p11.2
Coordinates
Chromosome 17: 17,681,458–17,811,453 (GRCh38)
Exons
6 exons across 130 kb
Protein
1,906 amino acids
Also known as
DKFZP434A139, SMS, KIAA1820, MGC12824
Previous symbols
SMCR
MANE Select transcript
ENST00000353383.6NM_030665.4
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

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How RAI1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where RAI1 sits. RAI1 and 15 genes near it on chromosome 17, from 17,246,456 to 18,246,455.Chromosome 1717p11.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.317.4 Mb17.6 Mb17.8 Mb18 Mb18.2 MbCOPS3: 17,244,686–17,281,311, reverse strandCOPS3NT5M: 17,303,316–17,347,663, forward strandNT5MMED9: 17,476,981–17,494,484, forward strandMED9RASD1: 17,494,193–17,496,402, reverse strandRASD1PEMT: 17,505,559–17,592,105, reverse strandPEMTRAI1: 17,681,458–17,811,453, forward strandRAI1SREBF1: 17,810,399–17,837,035, reverse strandSREBF1TOM1L2: 17,843,507–17,972,470, reverse strandTOM1L2DRC3: 17,972,813–18,016,889, forward strandDRC3ATPAF2: 17,977,409–18,040,833, reverse strandATPAF2GID4: 18,039,371–18,068,405, forward strandGID4DRG2: 18,087,876–18,107,979, forward strandDRG2MYO15A: 18,108,756–18,179,802, forward strandMYO15AALKBH5: 18,183,034–18,209,954, forward strandALKBH5LLGL1: 18,225,542–18,244,876, forward strandLLGL1FLII: 18,244,782–18,260,420, reverse strandFLIIDiagram of RAI1: 6 exons on the forward strand of chromosome 17Exon 3: 64 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 1: 17,681,458–17,681,793, 336 basesExon 2: 17,724,028–17,724,159, 132 basesExon 3: 17,792,933–17,798,513, 5,581 basesExon 4: 17,803,756–17,803,849, 94 basesExon 5: 17,809,390–17,809,439, 50 basesExon 6: 17,809,970–17,811,453, 1,484 bases12465′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 7.7 kb of the gene's 130 kb; 5,721 of those bases code for the protein.

    How a genome test reads RAI1

    68

    positions in RAI1 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 130 kb of RAI1, introns included, not only the 7.7 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.). RAI1 gene: retinoic acid induced 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/rai1

    Vancouver

    Dante Labs. RAI1 gene: retinoic acid induced 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rai1

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