• Gene id: 5991

Gene Summary

• Gene Symbol: RFX3   Gene   UCSC   Ensembl
• Gene name: regulatory factor X3
• Alternate names: transcription factor RFX3, DNA binding protein RFX3, regulatory factor X, 3 (influences HLA class II expression),
• Gene location: 9p24.2 (3526528: 3218296)     Exons: 27     NC_000009.12
• Gene summary(Entrez): This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, a
• OMIM: 601337

Protein Summary

• Protein general information: P48380  
  • Name: Transcription factor RFX3 (Regulatory factor X 3)
  • Length: 749  
  • Mass: 83530
• Sequence:

  MQTSETGSDTGSTVTLQTSVASQAAVPTQVVQQVPVQQQVQQVQTVQQVQHVYPAQVQYVEGSDTVYTNGAIRTT
  TYPYTETQMYSQNTGGNYFDTQGSSAQVTTVVSSHSMVGTGGIQMGVTGGQLISSSGGTYLIGNSMENSGHSVTH
  TTRASPATIEMAIETLQKSDGLSTHRSSLLNSHLQWLLDNYETAEGVSLPRSTLYNHYLRHCQEHKLDPVNAASF
  GKLIRSIFMGLRTRRLGTRGNSKYHYYGIRVKPDSPLNRLQEDMQYMAMRQQPMQQKQRYKPMQKVDGVADGFTG
  SGQQTGTSVEQTVIAQSQHHQQFLDASRALPEFGEVEISSLPDGTTFEDIKSLQSLYREHCEAILDVVVNLQFSL
  IEKLWQTFWRYSPSTPTDGTTITESSNLSEIESRLPKAKLITLCKHESILKWMCNCDHGMYQALVEILIPDVLRP
  IPSALTQAIRNFAKSLEGWLSNAMNNIPQRMIQTKVAAVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSD
  LNRVDFANVQEQASWVCQCDDNMVQRLETDFKMTLQQQSTLEQWAAWLDNVMMQALKPYEGRPSFPKAARQFLLK
  WSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAQATGETPIAVMGEFGDLNAVSPGNLDKDEGSE
  VESEMDEELDDSSEPQAKREKTELSQAFPVGCMQPVLETGVQPSLLNPIHSEHIVTSTQTIRQCSATGNTYTAV

• Structural information:
  • Interpro: IPR003150  IPR039779  IPR007668  IPR036388  IPR036390  
  • Prosite: PS51526
  • STRING: ENSP00000371434
• Other Databases: GeneCards:  RFX3  Malacards:  RFX3

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:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060285	cilium-dependent cell motility	ISS	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	ISS	biological process
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0031018	endocrine pancreas development	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0005634	nucleus	TAS	cellular component
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: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: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:2000078	positive regulation of type B pancreatic cell development	IEA	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IEA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0072560	type B pancreatic cell maturation	IEA	biological process
GO:0060285	cilium-dependent cell motility	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0060271	cilium assembly	ISS	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005667	transcription regulator complex	IC	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048469	cell maturation	ISS	biological process
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:2000078	positive regulation of type B pancreatic cell development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R