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Gene

TAF1

TATA-box binding protein associated factor 1

Summary

Cytogenetic location
Xq13.1
Coordinates
Chromosome X: 71,366,357–71,466,005 (GRCh38)
Exons
38 exons across 99.6 kb
Protein
1,873 amino acids
Also known as
NSCL2, TAFII250, KAT4, DYT3/TAF1
Previous symbols
TAF2A, BA2R, CCG1, CCGS, DYT3
MANE Select transcript
ENST00000423759.6NM_004606.5
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 reports relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

How TAF1 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 TAF1 sits. TAF1 and 19 genes near it on chromosome X, from 70,916,181 to 71,916,180.Chromosome XXq13.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2871 Mb71.2 Mb71.4 Mb71.6 Mb71.8 MbSLC7A3: 70,925,556–70,931,149, reverse strandSLC7A3SNX12: 70,963,111–71,073,426, reverse strandSNX12FOXO4: 71,095,839–71,103,535, forward strandCXorf65: 71,103,889–71,106,788, reverse strandCXorf65: 71,103,987–71,111,575, reverse strandIL2RG: 71,107,404–71,112,108, reverse strandIL2RGMED12: 71,118,543–71,144,103, forward strandMED12NLGN3: 71,143,286–71,175,306, forward strandNLGN3GJB1: 71,212,811–71,225,519, forward strandGJB1ZMYM3: 71,239,617–71,255,269, reverse strandZMYM3NONO: 71,254,270–71,301,522, forward strandNONOITGB1BP2: 71,301,717–71,305,371, forward strandITGB1BP2TAF1: 71,366,357–71,466,005, forward strandTAF1OGT: 71,533,068–71,575,892, forward strandOGTGCNA: 71,578,436–71,613,590, forward strandGCNACXCR3: 71,615,912–71,618,545, reverse strandCXCR3CXorf49C: 71,667,542–71,671,527, forward strandCXorf49CCXorf49: 71,714,369–71,718,307, reverse strandCXorf49CXorf49B: 71,763,321–71,767,204, forward strandCXorf49BNHSL2: 71,910,834–72,161,750, forward strandNHSL2Diagram of TAF1: 38 exons on the forward strand of chromosome XExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 15: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 24: 3 known disease-causing sitesExon 25: 1 known disease-causing siteExon 28: 3 known disease-causing sitesExon 30: 1 known disease-causing siteExon 1: 71,366,357–71,366,494, 138 basesExon 2: 71,367,499–71,367,613, 115 basesExon 3: 71,368,054–71,368,170, 117 basesExon 4: 71,375,167–71,375,286, 120 basesExon 5: 71,376,950–71,377,191, 242 basesExon 6: 71,377,603–71,377,821, 219 basesExon 7: 71,378,235–71,378,453, 219 basesExon 8: 71,378,824–71,379,031, 208 basesExon 9: 71,381,743–71,381,919, 177 basesExon 10: 71,382,536–71,382,663, 128 basesExon 11: 71,382,761–71,382,868, 108 basesExon 12: 71,382,991–71,383,164, 174 basesExon 13: 71,383,962–71,384,135, 174 basesExon 14: 71,384,945–71,385,049, 105 basesExon 15: 71,387,261–71,387,461, 201 basesExon 16: 71,388,237–71,388,378, 142 basesExon 17: 71,388,738–71,388,868, 131 basesExon 18: 71,389,585–71,389,665, 81 basesExon 19: 71,392,569–71,392,718, 150 basesExon 20: 71,392,875–71,392,994, 120 basesExon 21: 71,393,301–71,393,476, 176 basesExon 22: 71,394,067–71,394,245, 179 basesExon 23: 71,397,253–71,397,466, 214 basesExon 24: 71,398,572–71,398,737, 166 basesExon 25: 71,401,528–71,401,739, 212 basesExon 26: 71,406,638–71,406,746, 109 basesExon 27: 71,407,574–71,407,672, 99 basesExon 28: 71,407,974–71,408,151, 178 basesExon 29: 71,421,309–71,421,376, 68 basesExon 30: 71,423,117–71,423,239, 123 basesExon 31: 71,423,974–71,424,066, 93 basesExon 32: 71,424,154–71,424,238, 85 basesExon 33: 71,454,170–71,454,237, 68 basesExon 34: 71,454,741–71,454,857, 117 basesExon 35: 71,458,241–71,458,366, 126 basesExon 36: 71,459,552–71,459,708, 157 basesExon 37: 71,460,626–71,460,803, 178 basesExon 38: 71,463,824–71,466,005, 2,182 bases15101520253035385′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 7.6 kb of the gene's 99.6 kb; 5,622 of those bases code for the protein.

How a genome test reads TAF1

22

positions in TAF1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (4.5%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 99.6 kb of TAF1, introns included, not only the 7.6 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.). TAF1 gene: TATA-box binding protein associated factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/taf1

Vancouver

Dante Labs. TAF1 gene: TATA-box binding protein associated factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/taf1

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