• Gene id: 29128

Gene Summary

• Gene Symbol: UHRF1   Gene   UCSC   Ensembl
• Aliases: ICBP90, Np95, RNF106, TDRD22, hNP95, hUHRF1, huNp95
• Gene name: ubiquitin like with PHD and ring finger domains 1
• Alternate names: E3 ubiquitin-protein ligase UHRF1, RING finger protein 106, RING-type E3 ubiquitin transferase UHRF1, inverted CCAAT box-binding protein of 90 kDa, nuclear phosphoprotein 95, nuclear protein 95, nuclear zinc finger protein Np95, transcription factor ICBP90, ubiqu,
• Gene location: 19p13.3 (4903079: 4962153)     Exons: 20     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2
• OMIM: 607990

SNPs

rs2656927

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

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

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

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

Protein Summary

• Protein general information: Q96T88  
  • Name: E3 ubiquitin protein ligase UHRF1 (EC 2.3.2.27) (Inverted CCAAT box binding protein of 90 kDa) (Nuclear protein 95) (Nuclear zinc finger protein Np95) (HuNp95) (hNp95) (RING finger protein 106) (RING type E3 ubiquitin transferase UHRF1) (Transcription fac
  • Length: 793  
  • Mass: 89814
  • Tissue specificity: Expressed in thymus, bone marrow, testis, lung and heart. Overexpressed in breast cancer. {ECO
• Sequence:

  MWIQVRTMDGRQTHTVDSLSRLTKVEELRRKIQELFHVEPGLQRLFYRGKQMEDGHTLFDYEVRLNDTIQLLVRQ
  SLVLPHSTKERDSELSDTDSGCCLGQSESDKSSTHGEAAAETDSRPADEDMWDETELGLYKVNEYVDARDTNMGA
  WFEAQVVRVTRKAPSRDEPCSSTSRPALEEDVIYHVKYDDYPENGVVQMNSRDVRARARTIIKWQDLEVGQVVML
  NYNPDNPKERGFWYDAEISRKRETRTARELYANVVLGDDSLNDCRIIFVDEVFKIERPGEGSPMVDNPMRRKSGP
  SCKHCKDDVNRLCRVCACHLCGGRQDPDKQLMCDECDMAFHIYCLDPPLSSVPSEDEWYCPECRNDASEVVLAGE
  RLRESKKKAKMASATSSSQRDWGKGMACVGRTKECTIVPSNHYGPIPGIPVGTMWRFRVQVSESGVHRPHVAGIH
  GRSNDGAYSLVLAGGYEDDVDHGNFFTYTGSGGRDLSGNKRTAEQSCDQKLTNTNRALALNCFAPINDQEGAEAK
  DWRSGKPVRVVRNVKGGKNSKYAPAEGNRYDGIYKVVKYWPEKGKSGFLVWRYLLRRDDDEPGPWTKEGKDRIKK
  LGLTMQYPEGYLEALANREREKENSKREEEEQQEGGFASPRTGKGKWKRKSAGGGPSRAGSPRRTSKKTKVEPYS
  LTAQQSSLIREDKSNAKLWNEVLASLKDRPASGSPFQLFLSKVEETFQCICCQELVFRPITTVCQHNVCKDCLDR
  SFRAQVFSCPACRYDLGRSYAMQVNQPLQTVLNQLFPGYGNGR

• Structural information:
  • Protein Domains: (1..7-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214-)
    (419..58-)
    (/note="YDG-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00358"-)
  • Interpro: IPR015947  IPR036987  IPR003105  IPR021991  IPR000626   IPR029071  IPR011011  IPR001965  IPR019787  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50053 PS51015 PS01359 PS50016 PS00518 PS50089
  • PDB: 2FAZ 2L3R 2LGG 2LGK 2LGL 2PB7 3ASK 3ASL 3BI7 3CLZ 3DB3 3DB4 3DWH 3FL2 3SHB 3SOU 3SOW 3SOX 3T6R 3ZVY 3ZVZ 4GY5 4QQD 5C6D 5IAY 5XPI 5YY9 5YYA 6B9M 6IIW
  • PDBsum: 2FAZ 2L3R 2LGG 2LGK 2LGL 2PB7 3ASK 3ASL 3BI7 3CLZ 3DB3 3DB4 3DWH 3FL2 3SHB 3SOU 3SOW 3SOX 3T6R 3ZVY 3ZVZ 4GY5 4QQD 5C6D 5IAY 5XPI 5YY9 5YYA 6B9M 6IIW
  • STRING: ENSP00000479617
• Other Databases: GeneCards:  UHRF1  Malacards:  UHRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0010216	maintenance of DNA methylation	IBA	biological process
GO:0005720	nuclear heterochromatin	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0010390	histone monoubiquitination	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0016574	histone ubiquitination	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0000792	heterochromatin	IDA	cellular component
GO:0000792	heterochromatin	IDA	cellular component
GO:0000792	heterochromatin	IDA	cellular component
GO:0000791	euchromatin	IDA	cellular component
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0044729	hemi-methylated DNA-binding	IDA	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0005657	replication fork	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010216	maintenance of DNA methylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	ISS	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031493	nucleosomal histone binding	ISS	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0032270	positive regulation of cellular protein metabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IC	biological process
GO:2000373	positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IC	biological process
GO:0050678	regulation of epithelial cell proliferation	IMP	biological process
GO:0016363	nuclear matrix	ISS	cellular component
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0010390	histone monoubiquitination	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq