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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046571
Ensembl Protein ID ENSP00000455983.1
UniProt Accession Q9Y2M0; A8K4M2; Q86WU8; FAN1_HUMAN
Genbank Protein ID BAA76862.3; BAF83676.1; AAH47882.1
Protein Name Fanconi-associated nuclease 1; FANCD2/FANCI-associated nuclease 1; Myotubularin-related protein 15
Genbank Nucleotide ID AB023235; AK290987; AC087481
Gene Name FAN1; KIAA1018; MTMR15
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000198690.9 ENST00000561594.5 ENSP00000455983.1
ENSG00000198690.9 ENST00000565280.5 ENSP00000455573.1
ENSG00000198690.9 ENST00000562892.1 ENSP00000457680.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
HPM
DNA & RNA Element
UTRdbAREsitecircRNADbCircNet
miRTarBasemicroRNATRANSFACTargetScan
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusUniProt
BioGRID
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
UBD/ZnF/UBZ 3.50e-09 38.4 41 64
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/ZnF/UBZ

   S: 1    llvCPvCqkmvdqtdfeeHlDe.C 23
    +l CPvC+kmv+++d+++HlDe C
   Q: 41 KLACPVCSKMVPRYDLNRHLDEmC 64
    689******************988 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).
Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).
Protein Sequence
(Fasta)
MMSEGKPPDK KRPRRSLSIS KNKKKASNSI ISCFNNAPPA KLACPVCSKM VPRYDLNRHL 60
DEMCANNDFV QVDPGQVGLI NSNVSMVDLT SVTLEDVTPK KSPPPKTNLT PGQSDSAKRE 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046571|UBD,UBZ|Homo sapiens
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Nucleotide Sequence
(Fasta)
CTGGGAATGC CTGGAAGCGC CGGCGCGCGG AGCCAGGTGG GAGGTGCGAG GTGGCCGCGC 60
GGGGATCTTG GGTGACAGGG CACCGAGGGA AGGAGGACGC GAGGGCAGCC AGGCCCTAGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046571|UBD,UBZ|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-0227--DNA damage
KW-0234--DNA repair
KW-0255--Endonuclease
KW-0269--Exonuclease
KW-0378--Hydrolase
KW-0460--Magnesium
KW-0464--Manganese
KW-0479--Metal-binding
KW-0540--Nuclease
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0832--Ubl conjugation
KW-0862--Zinc
KW-0863--Zinc-finger

Interpro

IPR033315--Fan1-like
IPR011990--TPR-like_helical_dom
IPR014883--VRR_NUC
IPR006642--Znf_Rad18_put

Pfam

PF08774--VRR_NUC

SMART

SM00990--VRR_NUC
SM00734--ZnF_Rad18

Gene Ontology

GO:0005829--C:cytosol
GO:0045171--C:intercellular bridge
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0008409--F:5'-3' exonuclease activity
GO:0017108--F:5'-flap endonuclease activity
GO:0070336--F:flap-structured DNA binding
GO:0000287--F:magnesium ion binding
GO:0004528--F:phosphodiesterase I activity
GO:0043130--F:ubiquitin binding
GO:0006281--P:DNA repair
GO:0000724--P:double-strand break repair via homologous recombination
GO:0036297--P:interstrand cross-link repair
GO:0006289--P:nucleotide-excision repair
GO:0033683--P:nucleotide-excision repair, DNA incision

KEGG hsa:22909
Orthology
iUUCD ID Species Identity E-value Score
Created Date 25-Jun-2017

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