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Gene

GNAT1

G protein subunit alpha transducin 1

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 50,191,610–50,197,696 (GRCh38)
Exons
9 exons across 6.1 kb
Protein
350 amino acids
Also known as
CSNBAD3
MANE Select transcript
ENST00000232461.8NM_144499.3
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

  • Congenital Stationary Night Blindness

    • A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.

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

      A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.

How GNAT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where GNAT1 sits. GNAT1 and 36 genes near it on chromosome 3, from 49,694,653 to 50,694,652.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2949.8 Mb50 Mb50.2 Mb50.4 Mb50.6 MbRNF123: 49,688,740–49,723,389, forward strandRNF123AMIGO3: 49,716,829–49,719,684, reverse strandAMIGO3GMPPB: 49,716,844–49,723,988, reverse strandGMPPBIP6K1: 49,724,294–49,786,557, reverse strandIP6K1CDHR4: 49,790,732–49,799,879, reverse strandCDHR4INKA1: 49,803,228–49,805,237, forward strandINKA1UBA7: 49,805,205–49,814,151, reverse strandUBA7TRAIP: 49,828,595–49,856,597, reverse strandTRAIPCAMKV: 49,857,214–49,870,064, reverse strandCAMKVMST1R: 49,886,902–49,906,130, reverse strandMST1RMON1A: 49,907,160–49,930,173, reverse strandMON1ARBM6: 49,940,007–50,100,045, forward strandRBM6RBM5: 50,088,898–50,119,021, forward strandRBM5SEMA3F: 50,155,012–50,189,075, forward strandSEMA3FGNAT1: 50,191,610–50,197,696, forward strandGNAT1SLC38A3: 50,202,871–50,221,504, forward strandSLC38A3GNAI2: 50,226,292–50,259,362, forward strandGNAI2SEMA3B: 50,267,507–50,277,573, forward strandSEMA3BLSMEM2: 50,279,030–50,288,116, forward strandLSMEM2IFRD2: 50,286,003–50,292,918, reverse strandIFRD2HYAL3: 50,292,830–50,299,437, reverse strandHYAL3NAA80: 50,296,402–50,299,437, reverse strandHYAL1: 50,299,883–50,312,890, reverse strandHYAL2: 50,313,396–50,324,687, reverse strandTUSC2: 50,320,027–50,328,251, reverse strandRASSF1: 50,329,782–50,340,980, reverse strandZMYND10: 50,341,110–50,345,746, reverse strandNPRL2: 50,347,330–50,350,826, reverse strandNPRL2CYB561D2: 50,350,834–50,358,460, forward strandCYB561D2: 50,350,892–50,367,923, forward strandTMEM115: 50,352,820–50,359,566, reverse strandCACNA2D2: 50,362,613–50,504,244, reverse strandC3orf18: 50,556,409–50,573,568, reverse strandC3orf18HEMK1: 50,567,895–50,596,168, forward strandHEMK1CISH: 50,606,456–50,611,984, reverse strandCISHMAPKAPK3: 50,611,487–50,651,017, forward strandMAPKAPK3DOCK3: 50,674,875–51,384,198, forward strandDOCK3Diagram of GNAT1: 9 exons on the forward strand of chromosome 3Exon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 1: 50,191,610–50,191,831, 222 basesExon 2: 50,193,133–50,193,175, 43 basesExon 3: 50,193,265–50,193,406, 142 basesExon 4: 50,193,506–50,193,663, 158 basesExon 5: 50,193,753–50,193,881, 129 basesExon 6: 50,194,092–50,194,221, 130 basesExon 7: 50,194,501–50,194,654, 154 basesExon 8: 50,194,765–50,194,956, 192 basesExon 9: 50,195,268–50,197,696, 2,429 bases1234567895′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 3.6 kb of the gene's 6.1 kb; 1,053 of those bases code for the protein.

How a genome test reads GNAT1

3

positions in GNAT1 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 6.1 kb of GNAT1, introns included, not only the 3.6 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.). GNAT1 gene: G protein subunit alpha transducin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gnat1

Vancouver

Dante Labs. GNAT1 gene: G protein subunit alpha transducin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gnat1

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