• Gene id: 84893

Gene Summary

• Gene Symbol: FBH1   Gene   UCSC   Ensembl
• Aliases: FBXO18, Fbx18, hFBH1
• Gene name: F-box DNA helicase 1
• Alternate names: F-box DNA helicase 1, F-box only protein, helicase, 18, F-box protein, helicase, 18,
• Gene location: 10p15.1 (5889571: 5937594)     Exons: 26     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cul
• OMIM: 607222

Protein Summary

• Protein general information: Q8NFZ0  
  • Name: F box DNA helicase 1 (hFBH1) (EC 3.6.4.12) (F box only protein 18)
  • Length: 1043  
  • Mass: 117686
• Sequence:

  MRRFKRKHLTAIDCQHLARSHLAVTQPFGQRWTNRDPNHGLYPKPRTKRGSRGQGSQRCIPEFFLAGKQPCTNDM
  AKSNSVGQDSCQDSEGDMIFPAESSCALPQEGSAGPGSPGSAPPSRKRSWSSEEESNQATGTSRWDGVSKKAPRH
  HLSVPCTRPREARQEAEDSTSRLSAESGETDQDAGDVGPDPIPDSYYGLLGTLPCQEALSHICSLPSEVLRHVFA
  FLPVEDLYWNLSLVCHLWREIISDPLFIPWKKLYHRYLMNEEQAVSKVDGILSNCGIEKESDLCVLNLIRYTATT
  KCSPSVDPERVLWSLRDHPLLPEAEACVRQHLPDLYAAAGGVNIWALVAAVVLLSSSVNDIQRLLFCLRRPSSTV
  TMPDVTETLYCIAVLLYAMREKGINISNRIHYNIFYCLYLQENSCTQATKVKEEPSVWPGKKTIQLTHEQQLILN
  HKMEPLQVVKIMAFAGTGKTSTLVKYAEKWSQSRFLYVTFNKSIAKQAERVFPSNVICKTFHSMAYGHIGRKYQS
  KKKLNLFKLTPFMVNSVLAEGKGGFIRAKLVCKTLENFFASADEELTIDHVPIWCKNSQGQRVMVEQSEKLNGVL
  EASRLWDNMRKLGECTEEAHQMTHDGYLKLWQLSKPSLASFDAIFVDEAQDCTPAIMNIVLSQPCGKIFVGDPHQ
  QIYTFRGAVNALFTVPHTHVFYLTQSFRFGVEIAYVGATILDVCKRVRKKTLVGGNHQSGIRGDAKGQVALLSRT
  NANVFDEAVRVTEGEFPSRIHLIGGIKSFGLDRIIDIWILLQPEEERRKQNLVIKDKFIRRWVHKEGFSGFKRYV
  TAAEDKELEAKIAVVEKYNIRIPELVQRIEKCHIEDLDFAEYILGTVHKAKGLEFDTVHVLDDFVKVPCARHNLP
  QLPHFRVESFSEDEWNLLYVAVTRAKKRLIMTKSLENILTLAGEYFLQAELTSNVLKTGVVRCCVGQCNNAIPVD
  TVLTMKKLPITYSNRKENKGGYLCHSCAEQRIGPLAFLTASPEQVRAMERTVENIVLPRHEALLFLVF

• Structural information:
  • Protein Domains: (138..18-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080-)
    (442..70-)
    ATP-binding (/note="UvrD-like-helicase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00560"-)
  • Interpro: IPR014017  IPR000212  IPR036047  IPR001810  IPR027417  
  • Prosite: PS50181
  • STRING: ENSP00000369335
• Other Databases: GeneCards:  FBH1  Malacards:  FBH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006281	DNA repair	IBA	biological process
GO:0031297	replication fork processing	IBA	biological process
GO:0043138	3'-5' DNA helicase activity	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0000725	recombinational repair	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0043138	3'-5' DNA helicase activity	IDA	molecular function
GO:0031297	replication fork processing	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0043138	3'-5' DNA helicase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0008219	cell death	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0048478	replication fork protection	ISS	biological process
GO:0003678	DNA helicase activity	IMP	molecular function
GO:0000724	double-strand break repair via homologous recombination	ISS	biological process
GO:0008219	cell death	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0015616	DNA translocase activity	IDA	molecular function
GO:1902231	positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0072429	response to intra-S DNA damage checkpoint signaling	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0000737	DNA catabolic process, endonucleolytic	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048478	replication fork protection	IEA	biological process
GO:0031297	replication fork processing	IEA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0072429	response to intra-S DNA damage checkpoint signaling	IEA	biological process
GO:0035562	negative regulation of chromatin binding	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
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:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process

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)