FBH1
F-box DNA helicase 1
Also known as: FBH1_HUMAN, Fbx18, FBXO18, FLJ14590
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFZ0
- Gene
- FBH1
- Ensembl
- ENSG00000134452
- Chromosome
- 10
- Canonical length
- 1043 aa
- Protein class
- Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
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-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1043 residues, UniProt reviewed canonical sequence.
>Q8NFZ0|FBH1
1 MRRFKRKHLT AIDCQHLARS HLAVTQPFGQ RWTNRDPNHG LYPKPRTKRG SRGQGSQRCI
61 PEFFLAGKQP CTNDMAKSNS VGQDSCQDSE GDMIFPAESS CALPQEGSAG PGSPGSAPPS
121 RKRSWSSEEE SNQATGTSRW DGVSKKAPRH HLSVPCTRPR EARQEAEDST SRLSAESGET
181 DQDAGDVGPD PIPDSYYGLL GTLPCQEALS HICSLPSEVL RHVFAFLPVE DLYWNLSLVC
241 HLWREIISDP LFIPWKKLYH RYLMNEEQAV SKVDGILSNC GIEKESDLCV LNLIRYTATT
301 KCSPSVDPER VLWSLRDHPL LPEAEACVRQ HLPDLYAAAG GVNIWALVAA VVLLSSSVND
361 IQRLLFCLRR PSSTVTMPDV TETLYCIAVL LYAMREKGIN ISNRIHYNIF YCLYLQENSC
421 TQATKVKEEP SVWPGKKTIQ LTHEQQLILN HKMEPLQVVK IMAFAGTGKT STLVKYAEKW
481 SQSRFLYVTF NKSIAKQAER VFPSNVICKT FHSMAYGHIG RKYQSKKKLN LFKLTPFMVN
541 SVLAEGKGGF IRAKLVCKTL ENFFASADEE LTIDHVPIWC KNSQGQRVMV EQSEKLNGVL
601 EASRLWDNMR KLGECTEEAH QMTHDGYLKL WQLSKPSLAS FDAIFVDEAQ DCTPAIMNIV
661 LSQPCGKIFV GDPHQQIYTF RGAVNALFTV PHTHVFYLTQ SFRFGVEIAY VGATILDVCK
721 RVRKKTLVGG NHQSGIRGDA KGQVALLSRT NANVFDEAVR VTEGEFPSRI HLIGGIKSFG
781 LDRIIDIWIL LQPEEERRKQ NLVIKDKFIR RWVHKEGFSG FKRYVTAAED KELEAKIAVV
841 EKYNIRIPEL VQRIEKCHIE DLDFAEYILG TVHKAKGLEF DTVHVLDDFV KVPCARHNLP
901 QLPHFRVESF SEDEWNLLYV AVTRAKKRLI MTKSLENILT LAGEYFLQAE LTSNVLKTGV
961 VRCCVGQCNN AIPVDTVLTM KKLPITYSNR KENKGGYLCH SCAEQRIGPL AFLTASPEQV
1021 RAMERTVENI VLPRHEALLF LVFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FBH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 42 nTPM
- adrenal gland: 38 nTPM
- thymus: 38 nTPM
- fallopian tube: 37 nTPM
- blood vessel: 36 nTPM
- spleen: 34 nTPM
Single-cell type
- sertoli cells: 129 nCPM
- erythrocyte progenitors: 122 nCPM
- choroid plexus epithelial cells: 120 nCPM
- plasma cells: 113 nCPM
- adrenal cortex cells: 111 nCPM
- renal collecting duct intercalated cells: 75 nCPM
Immune cell
- T-reg: 6.2 nTPM
- NK-cell: 4.7 nTPM
- naive B-cell: 4.1 nTPM
- plasmacytoid DC: 4 nTPM
- eosinophil: 3.3 nTPM
- memory B-cell: 3.1 nTPM
Brain region
- choroid plexus: 39 nTPM
- basal ganglia: 27 nTPM
- thalamus: 25 nTPM
- cerebral cortex: 25 nTPM
- white matter: 24 nTPM
- midbrain: 23 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.48
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA catabolic process
- DNA damage response
- DNA repair
- double-strand break repair via homologous recombination
- negative regulation of double-strand break repair via homologous recombination
- positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage
- positive regulation of protein phosphorylation
- protein ubiquitination
- replication fork processing
- response to intra-S DNA damage checkpoint signaling
Molecular functions
- 3'-5' DNA helicase activity
- ATP binding
- ATP hydrolysis activity
- DNA helicase activity
- DNA translocase activity
- double-stranded DNA binding
- single-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- F-box domain
- UvrD-like helicase, ATP-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- F-box-like domain superfamily
- UvrD/REP helicase N-terminal domain
- F-box-like
- UvrD-like helicase
- UvrD-like helicase, C-terminal
- UvrD-like helicase C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FBH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FBH1 as an antibody target. Whether an autoantibody or antibody against FBH1 could matter depends on whether native FBH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FBH1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FBH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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