• Gene id: 7404

Gene Summary

• Gene Symbol: UTY   Gene   UCSC   Ensembl
• Aliases: KDM6AL, KDM6C, UTY1
• Gene name: ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
• Alternate names: histone demethylase UTY, ubiquitous TPR motif protein UTY, ubiquitously transcribed TPR gene on Y chromosome, ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome, ubiquitously transcribed tetratricopeptide repeat gene, Y-linked, ubiquitously-t,
• Gene location: Yq11.221 (13480669: 13231826)     Exons: 5     NC_000024.10
• Gene summary(Entrez): This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A
• OMIM: 400009

SNPs

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: O14607  
  • Name: Histone demethylase UTY (EC 1.14.11. ) (Ubiquitously transcribed TPR protein on the Y chromosome) (Ubiquitously transcribed Y chromosome tetratricopeptide repeat protein)
  • Length: 1347  
  • Mass: 149548
• Sequence:

  MKSCAVSLTTAAVAFGDEAKKMAEGKASRESEEESVSLTVEEREALGGMDSRLFGFVRLHEDGARTKTLLGKAVR
  CYESLILKAEGKVESDFFCQLGHFNLLLEDYSKALSAYQRYYSLQADYWKNAAFLYGLGLVYFYYNAFHWAIKAF
  QDVLYVDPSFCRAKEIHLRLGLMFKVNTDYKSSLKHFQLALIDCNPCTLSNAEIQFHIAHLYETQRKYHSAKEAY
  EQLLQTENLPAQVKATVLQQLGWMHHNMDLVGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKVQDA
  FISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGTLYESCNQPQDAIKCYLNA
  ARSKRCSNTSTLAARIKFLQNGSDNWNGGQSLSHHPVQQVYSLCLTPQKLQHLEQLRANRDNLNPAQKHQLEQLE
  SQFVLMQQMRHKEVAQVRTTGIHNGAITDSSLPTNSVSNRQPHGALTRVSSVSQPGVRPACVEKLLSSGAFSAGC
  IPCGTSKILGSTDTILLGSNCIAGSESNGNVPYLQQNTHTLPHNHTDLNSSTEEPWRKQLSNSAQGLHKSQSSCL
  SGPNEEQPLFSTGSAQYHQATSTGIKKANEHLTLPSNSVPQGDADSHLSCHTATSGGQQGIMFTKESKPSKNRSL
  VPETSRHTGDTSNGCADVKGLSNHVHQLIADAVSSPNHGDSPNLLIADNPQLSALLIGKANGNVGTGTCDKVNNI
  HPAVHTKTDHSVASSPSSAISTATPSPKSTEQRSINSVTSLNSPHSGLHTVNGEGLGKSQSSTKVDLPLASHRST
  SQILPSMSVSICPSSTEVLKACRNPGKNGLSNSCILLDKCPPPRPPTSPYPPLPKDKLNPPTPSIYLENKRDAFF
  PPLHQFCTNPKNPVTVIRGLAGALKLDLGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKIWRCESNRS
  HTTIAKYAQYQASSFQESLREENEKRTQHKDHSDNESTSSENSGRRRKGPFKTIKFGTNIDLSDNKKWKLQLHEL
  TKLPAFARVVSAGNLLTHVGHTILGMNTVQLYMKVPGSRTPGHQENNNFCSVNINIGPGDCEWFVVPEDYWGVLN
  DFCEKNNLNFLMSSWWPNLEDLYEANVPVYRFIQRPGDLVWINAGTVHWVQAVGWCNNIAWNVGPLTACQYKLAV
  ERYEWNKLKSVKSPVPMVHLSWNMARNIKVSDPKLFEMIKYCLLKILKQYQTLREALVAAGKEVIWHGRTNDEPA
  HYCSICEVEVFNLLFVTNESNTQKTYIVHCHDCARKTSKSLENFVVLEQYKMEDLIQVYDQFTLALSLSSSS

• Structural information:
  • Protein Domains: (1042..120-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR003347  IPR029516  IPR013026  IPR011990  IPR019734  
  • Prosite: PS51184 PS50005 PS50293
  • PDB: 3ZLI 3ZPO 4UF0 5A1L 5FXV 5FXW 5FXX 5FXZ 5FY0 5FY1 5FY7 5FYM
  • PDBsum: 3ZLI 3ZPO 4UF0 5A1L 5FXV 5FXW 5FXX 5FXZ 5FY0 5FY1 5FY7 5FYM
  • DIP: 48650
• Other Databases: GeneCards:  UTY  Malacards:  UTY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031490	chromatin DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0071558	histone demethylase activity (H3-K27 specific)	IBA	molecular function
GO:0044666	MLL3/4 complex	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0071557	histone H3-K27 demethylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)