• Gene id: 8607

Gene Summary

• Gene Symbol: RUVBL1   Gene   UCSC   Ensembl
• Aliases: ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
• Gene name: RuvB like AAA ATPase 1
• Alternate names: ruvB-like 1, 49 kDa TATA box-binding protein-interacting protein, 49 kDa TBP-interacting protein, 54 kDa erythrocyte cytosolic protein, INO80 complex subunit H, RuvB (E coli homolog)-like 1, RuvB-like AAA ATPase, TAP54-alpha, TATA binding protein interacting prot,
• Gene location: 3q21.3 (128153913: 128064610)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcription
• OMIM: 603449

Protein Summary

• Protein general information: Q9Y265  
  • Name: RuvB like 1 (EC 3.6.4.12) (49 kDa TATA box binding protein interacting protein) (49 kDa TBP interacting protein) (54 kDa erythrocyte cytosolic protein) (ECP 54) (INO80 complex subunit H) (Nuclear matrix protein 238) (NMP 238) (Pontin 52) (TIP49a) (TIP60 a
  • Length: 456  
  • Mass: 50228
  • Tissue specificity: Ubiquitously expressed with high expression in heart, skeletal muscle and testis.
• Sequence:

  MKIEEVKSTTKTQRIASHSHVKGLGLDESGLAKQAASGLVGQENAREACGVIVELIKSKKMAGRAVLLAGPPGTG
  KTALALAIAQELGSKVPFCPMVGSEVYSTEIKKTEVLMENFRRAIGLRIKETKEVYEGEVTELTPCETENPMGGY
  GKTISHVIIGLKTAKGTKQLKLDPSIFESLQKERVEAGDVIYIEANSGAVKRQGRCDTYATEFDLEAEEYVPLPK
  GDVHKKKEIIQDVTLHDLDVANARPQGGQDILSMMGQLMKPKKTEITDKLRGEINKVVNKYIDQGIAELVPGVLF
  VDEVHMLDIECFTYLHRALESSIAPIVIFASNRGNCVIRGTEDITSPHGIPLDLLDRVMIIRTMLYTPQEMKQII
  KIRAQTEGINISEEALNHLGEIGTKTTLRYSVQLLTPANLLAKINGKDSIEKEHVEEISELFYDAKSSAKILADQ
  QDKYMK

• Structural information:
  • Interpro: IPR003593  IPR027417  IPR027238  IPR041048  IPR037938   IPR010339  
  • PDB: 2C9O 2XSZ 5OAF 6FO1 6HTS 6IGM 6QI8 6QI9
  • PDBsum: 2C9O 2XSZ 5OAF 6FO1 6HTS 6IGM 6QI8 6QI9
  • DIP: 29937
  • STRING: ENSP00000318297
• Other Databases: GeneCards:  RUVBL1  Malacards:  RUVBL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0000812	Swr1 complex	IBA	cellular component
GO:0000492	box C/D snoRNP assembly	IBA	biological process
GO:0097255	R2TP complex	IBA	cellular component
GO:0031011	Ino80 complex	IBA	cellular component
GO:0016573	histone acetylation	IBA	biological process
GO:0006338	chromatin remodeling	IBA	biological process
GO:0071339	MLL1 complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000812	Swr1 complex	IDA	cellular component
GO:0097255	R2TP complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0035267	NuA4 histone acetyltransferase complex	IEA	cellular component
GO:0043139	5'-3' DNA helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0031011	Ino80 complex	IEA	cellular component
GO:0097255	R2TP complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0040008	regulation of growth	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0034080	CENP-A containing nucleosome assembly	TAS	biological process
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: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: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:0051117	ATPase binding	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0001094	TFIID-class transcription factor complex binding	IEA	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0043968	histone H2A acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0017025	TBP-class protein binding	IDA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray