Nuclear Receptor-Binding Set Domain Protein1

Alternative Names

  • NSD1
  • Nuclear Receptor-Binding Su-var, Enhancer of ZESTE , and Thrithorax Domain Protein 1
  • SET Domain Protein 1
  • Androgen Receptor-Associated Coregulator 267
  • ARA267
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OMIM Number

606681

NCBI Gene ID

64324

Uniprot ID

Q96L73

Length

168,381 bases

No. of Exons

31

No. of isoforms

3

Protein Name

Histone-lysine N-methyltransferase, H3 lysine-36 specific

Molecular Mass

296652 Da

Amino Acid Count

2696

Genomic Location

chr5:177,131,835-177,300,215

Gene Map Locus
5q35.3

Description

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022455.4:c.3549dupUnited Arab EmiratesNC_000005.10:g.177211948dupPathogenicPathogenicSotos Syndrome 1NG_009821.1:g.83870dup; NM_022455.4:c.3549dup; NP_071900.2:p.Glu1184Ter797045813211726
NM_022455.5:c.1893delSaudi ArabiaNC_000005.10:g.177210292delLikely PathogenicSotos Syndrome 1NG_009821.1:g.82214del; NM_022455.5:c.1893del; NP_071900.2:p.Lys631AsnfsTer22
NM_022455.5:c.2058T>ASaudi ArabiaNC_000005.10:g.177210457T>ALikely PathogenicPathogenicSotos Syndrome 1NG_009821.1:g.82379T>A; NM_022455.5:c.2058T>A; NP_071900.2:p.Tyr686Ter786205576191203
NM_022455.5:c.2224_2243delLebanonchr5:177210623-177210642Uncertain SignificanceBreast CancerNG_009821.1:g.82545_82564del; NM_022455.5:c.2224_2243del; NP_071900.2:p.Pro742Ter
NM_022455.5:c.2339C>TLebanonchr5:177210738BenignLikely PathogenicSotos Syndrome 1NG_009821.1:g.82660C>T; NM_022455.5:c.2339C>T; NP_071900.2:p.Ser780Leu201327209241432
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