• Gene id: 63925

Gene Summary

• Gene Symbol: ZNF335   Gene   UCSC   Ensembl
• Aliases: MCPH10, NIF-1, NIF1, NIF2
• Gene name: zinc finger protein 335
• Alternate names: zinc finger protein 335, NRC-interacting factor 1, zinc-finger/leucine-zipper co-transducer NIF1,
• Gene location: 20q13.12 (45972909: 45948652)     Exons: 27     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional
• OMIM: 610827

Protein Summary

• Protein general information: Q9H4Z2  
  • Name: Zinc finger protein 335 (NRC interacting factor 1) (NIF 1)
  • Length: 1342  
  • Mass: 144893
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MEENEVESSSDAAPGPGRPEEPSESGLGVGTSEAVSADSSDAAAAPGQAEADDSGVGQSSDRGSRSQEEVSESSS
  SADPLPNSYLPDSSSVSHGPVAGVTGGPPALVHSSALPDPNMLVSDCTASSSDLGSAIDKIIESTIGPDLIQNCI
  TVTSAEDGGAETTRYLILQGPDDGAPMTSPMSSSTLAHSLAAIEALADGPTSTSTCLEAQGGPSSPVQLPPASGA
  EEPDLQSLEAMMEVVVVQQFKCKMCQYRSSTKATLLRHMRERHFRPVAAAAAAAGKKGRLRKWSTSTKSQEEEGP
  EEEDDDDIVDAGAIDDLEEDSDYNPAEDEPRGRQLRLQRPTPSTPRPRRRPGRPRKLPRLEISDLPDGVEGEPLV
  SSQSGQSPPEPQDPEAPSSSGPGHLVAMGKVSRTPVEAGVSQSDAENAAPSCPDEHDTLPRRRGRPSRRFLGKKY
  RKYYYKSPKPLLRPFLCRICGSRFLSHEDLRFHVNSHEAGDPQLFKCLQCSYRSRRWSSLKEHMFNHVGSKPYKC
  DECSYTSVYRKDVIRHAAVHSRDRKKRPDPTPKLSSFPCPVCGRVYPMQKRLTQHMKTHSTEKPHMCDKCGKSFK
  KRYTFKMHLLTHIQAVANRRFKCEFCEFVCEDKKALLNHQLSHVSDKPFKCSFCPYRTFREDFLLSHVAVKHTGA
  KPFACEYCHFSTRHKKNLRLHVRCRHASSFEEWGRRHPEEPPSRRRPFFSLQQIEELKQQHSAAPGPPPSSPGPP
  EIPPEATTFQSSEAPSLLCSDTLGGATIIYQQGAEESTAMATQTALDLLLNMSAQRELGGTALQVAVVKSEDVEA
  GLASPGGQPSPEGATPQVVTLHVAEPGGGAAAESQLGPPDLPQITLAPGPFGGTGYSVITAPPMEEGTSAPGTPY
  SEEPAGEAAQAVVVSDTLKEAGTHYIMATDGTQLHHIELTADGSISFPSPDALASGAKWPLLQCGGLPRDGPEPP
  SPAKTHCVGDSQSSASSPPATSKALGLAVPPSPPSAATAASKKFSCKICAEAFPGRAEMESHKRAHAGPGAFKCP
  DCPFSARQWPEVRAHMAQHSSLRPHQCSQCSFASKNKKDLRRHMLTHTKEKPFACHLCGQRFNRNGHLKFHIQRL
  HSPDGRKSGTPTARAPTQTPTQTIILNSDDETLATLHTALQSSHGVLGPERLQQALSQEHIIVAQEQTVTNQEEA
  AYIQEITTADGQTVQHLVTSDNQVQYIISQDGVQHLLPQEYVVVPEGHHIQVQEGQITHIQYEQGAPFLQESQIQ
  YVPVSPGQQLVTQAQLEAAAHSAVTAVADAAMAQAQGLFGTDETVPEHIQQLQHQGIEYDVITLADD

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000325326
• Other Databases: GeneCards:  ZNF335  Malacards:  ZNF335

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0035097	histone methyltransferase complex	IBA	colocalizes with
GO:0050769	positive regulation of neurogenesis	IBA	biological process
GO:0080182	histone H3-K4 trimethylation	IBA	biological process
GO:0035097	histone methyltransferase complex	IDA	colocalizes with
GO:0080182	histone H3-K4 trimethylation	IMP	biological process
GO:0050769	positive regulation of neurogenesis	IMP	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0040029	regulation of gene expression, epigenetic	IMP	biological process
GO:0002052	positive regulation of neuroblast proliferation	ISS	biological process
GO:0050671	positive regulation of lymphocyte proliferation	IMP	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0048854	brain morphogenesis	IEA	biological process
GO:0035097	histone methyltransferase complex	IEA	cellular component
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0021895	cerebral cortex neuron differentiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq