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UniProtKB - Q9Y2M0 (FAN1_HUMAN)

Entry version 130 (31 Jul 2019)
Sequence version 4 (13 Nov 2007)
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Protein

Fanconi-associated nuclease 1

Gene

FAN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 Publication, Mg2+1 PublicationNote: Binds 2 magnesium or manganese ions per subunit.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi834Magnesium or manganese 2By similarity1
Metal bindingi960Magnesium or manganese 11 Publication1
Metal bindingi960Magnesium or manganese 21 Publication1
Metal bindingi975Magnesium or manganese 11 Publication1
Metal bindingi976Magnesium or manganese 1; via carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri41 – 67UBZ-typeAdd BLAST27

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Exonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair
LigandMagnesium, Manganese, Metal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6783310 Fanconi Anemia Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fanconi-associated nuclease 13 Publications (EC:3.1.21.-3 Publications, EC:3.1.4.12 Publications)
Alternative name(s):
FANCD2/FANCI-associated nuclease 13 Publications
Short name:
hFAN11 Publication
Myotubularin-related protein 15
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAN11 Publication
Synonyms:KIAA10181 Publication, MTMR15
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29170 FAN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613534 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y2M0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Interstitial nephritis, karyomegalic (KMIN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068958871C → R in KMIN; partially complement cell survival upon exposure to mitomycin C. 1 Publication1
Natural variantiVAR_068959929Q → P in KMIN. 1 Publication1
Natural variantiVAR_068960937G → D in KMIN. 1 PublicationCorresponds to variant dbSNP:rs1270571213Ensembl.1
Natural variantiVAR_068961960D → N in KMIN. 1 PublicationCorresponds to variant dbSNP:rs751703979Ensembl.1
Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.Disease susceptibility may be associated with variations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi44C → A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-47. 3 Publications1
Mutagenesisi47C → A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44. 2 Publications1
Mutagenesisi477L → P: Still localized to sites of DNA damage but the strength of the signal is diminished. 1 Publication1
Mutagenesisi706R → A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-952. 1 Publication1
Mutagenesisi864Q → A: Loss of nuclease activity; when associated with A-960; A-975 and A-977. 1 Publication1
Mutagenesisi952R → A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-706. 1 Publication1
Mutagenesisi960D → A: Loss of nuclease activity. Loss of nuclease activity; when associated with A-864; A-975 and A-977. 3 Publications1
Mutagenesisi975E → A: Loss of nuclease activity; when associated with A-864; A-960 and A-977. 1 Publication1
Mutagenesisi977K → A: Loss of nuclease activity; when associated with A-864; A-960 and A-975. 2 Publications1
Mutagenesisi981 – 982DR → AA: Loss of nuclease activity. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		22909

MalaCards human disease database

More...MalaCardsi		FAN1
MIMi614817 phenotype

Open Targets

More...OpenTargetsi		ENSG00000198690

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		401996 Karyomegalic interstitial nephritis
144 Lynch syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165478601

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FAN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		160410012

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003112241 – 1017Fanconi-associated nuclease 1Add BLAST1017

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei180PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y2M0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y2M0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y2M0

PeptideAtlas

More...PeptideAtlasi		Q9Y2M0

PRoteomics IDEntifications database

More...PRIDEi		Q9Y2M0

ProteomicsDB human proteome resource

More...ProteomicsDBi		85841 [Q9Y2M0-1]
85842 [Q9Y2M0-2]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		Q9Y2M0

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y2M0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y2M0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198690 Expressed in 217 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y2M0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y2M0 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048198

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FANCD2 (when monoubiquitinated).

Interacts with FANCI, MLH1, MLH3 and PMS2.

4 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116573, 48 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y2M0, 24 interactors

Molecular INTeraction database

More...MINTi		Q9Y2M0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354497

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11017
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y2M0

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini895 – 1007VRR-NUCAdd BLAST113

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili671 – 696Sequence analysisAdd BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi14 – 22D-boxCurated9
Motifi212 – 214KEN boxCurated3

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The UBZ-type zinc finger specifically binds monoubiquitinated FANCD2.4 Publications
The KEN box and D-box are required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAN1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri41 – 67UBZ-typeAdd BLAST27

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2143 Eukaryota
ENOG410XRN3 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018637

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000113686

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y2M0

KEGG Orthology (KO)

More...KOi		K15363

Identification of Orthologs from Complete Genome Data

More...OMAi		FSPAWVY

Database of Orthologous Groups

More...OrthoDBi		1003565at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y2M0

TreeFam database of animal gene trees

More...TreeFami		TF312870

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.1350.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033315 Fan1-like
IPR011856 tRNA_endonuc-like_dom_sf
IPR014883 VRR_NUC
IPR006642 Znf_Rad18_put

The PANTHER Classification System

More...PANTHERi		PTHR15749 PTHR15749, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08774 VRR_NUC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00990 VRR_NUC, 1 hit
SM00734 ZnF_Rad18, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2M0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMSEGKPPDK KRPRRSLSIS KNKKKASNSI ISCFNNAPPA KLACPVCSKM 
        60         70         80         90        100
VPRYDLNRHL DEMCANNDFV QVDPGQVGLI NSNVSMVDLT SVTLEDVTPK 
       110        120        130        140        150
KSPPPKTNLT PGQSDSAKRE VKQKISPYFK SNDVVCKNQD ELRNRSVKVI 
       160        170        180        190        200
CLGSLASKLS RKYVKAKKSI DKDEEFAGSS PQSSKSTVVK SLIDNSSEIE 
       210        220        230        240        250
DEDQILENSS QKENVFKCDS LKEECIPEHM VRGSKIMEAE SQKATRECEK 
       260        270        280        290        300
SALTPGFSDN AIMLFSPDFT LRNTLKSTSE DSLVKQECIK EVVEKREACH 
       310        320        330        340        350
CEEVKMTVAS EAKIQLSDSE AKSHSSADDA SAWSNIQEAP LQDDSCLNND 
       360        370        380        390        400
IPHSIPLEQG SSCNGPGQTT GHPYYLRSFL VVLKTVLENE DDMLLFDEQE 
       410        420        430        440        450
KGIVTKFYQL SATGQKLYVR LFQRKLSWIK MTKLEYEEIA LDLTPVIEEL 
       460        470        480        490        500
TNAGFLQTES ELQELSEVLE LLSAPELKSL AKTFHLVNPN GQKQQLVDAF 
       510        520        530        540        550
LKLAKQRSVC TWGKNKPGIG AVILKRAKAL AGQSVRICKG PRAVFSRILL 
       560        570        580        590        600
LFSLTDSMED EDAACGGQGQ LSTVLLVNLG RMEFPSYTIN RKTHIFQDRD 
       610        620        630        640        650
DLIRYAAATH MLSDISSAMA NGNWEEAKEL AQCAKRDWNR LKNHPSLRCH 
       660        670        680        690        700
EDLPLFLRCF TVGWIYTRIL SRFVEILQRL HMYEEAVREL ESLLSQRIYC 
       710        720        730        740        750
PDSRGRWWDR LALNLHQHLK RLEPTIKCIT EGLADPEVRT GHRLSLYQRA 
       760        770        780        790        800
VRLRESPSCK KFKHLFQQLP EMAVQDVKHV TITGRLCPQR GMCKSVFVME 
       810        820        830        840        850
AGEAADPTTV LCSVEELALA HYRRSGFDQG IHGEGSTFST LYGLLLWDII 
       860        870        880        890        900
FMDGIPDVFR NACQAFPLDL CTDSFFTSRR PALEARLQLI HDAPEESLRA 
       910        920        930        940        950
WVAATWHEQE GRVASLVSWD RFTSLQQAQD LVSCLGGPVL SGVCRHLAAD 
       960        970        980        990       1000
FRHCRGGLPD LVVWNSQSRH FKLVEVKGPN DRLSHKQMIW LAELQKLGAE 
      1010 
VEVCHVVAVG AKSQSLS
Length:1,017
Mass (Da):114,225
Last modified:November 13, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5E4E0A8A1A158F50
GO
Isoform 2 (identifier: Q9Y2M0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     527-533: AKALAGQ → FCWLLLQ
     534-1017: Missing.

Show »
Length:533
Mass (Da):59,498
Checksum:i016E3FDB6C031F95
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQ24H3BQ24_HUMAN
Fanconi-associated nuclease
FAN1
430Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BUK3H3BUK3_HUMAN
Fanconi-associated nuclease
FAN1
105Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH47882 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA76862 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti9D → DK in AAH47882 (PubMed:15489334).Curated1
Sequence conflicti319S → P in BAF83676 (PubMed:14702039).Curated1
Sequence conflicti487V → A in BAA76862 (PubMed:10231032).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037167233G → E1 PublicationCorresponds to variant dbSNP:rs4779794EnsemblClinVar.1
Natural variantiVAR_068958871C → R in KMIN; partially complement cell survival upon exposure to mitomycin C. 1 Publication1
Natural variantiVAR_068959929Q → P in KMIN. 1 Publication1
Natural variantiVAR_068960937G → D in KMIN. 1 PublicationCorresponds to variant dbSNP:rs1270571213Ensembl.1
Natural variantiVAR_068961960D → N in KMIN. 1 PublicationCorresponds to variant dbSNP:rs751703979Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_029429527 – 533AKALAGQ → FCWLLLQ in isoform 2. 2 Publications7
Alternative sequenceiVSP_029430534 – 1017Missing in isoform 2. 2 PublicationsAdd BLAST484

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB023235 mRNA Translation: BAA76862.3 Different initiation.
AK290987 mRNA Translation: BAF83676.1
AC087481 Genomic DNA No translation available.
BC047882 mRNA Translation: AAH47882.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32186.1 [Q9Y2M0-1]
CCDS58344.1 [Q9Y2M0-2]

NCBI Reference Sequences

More...RefSeqi		NP_001139566.1, NM_001146094.1 [Q9Y2M0-2]
NP_001139567.1, NM_001146095.1 [Q9Y2M0-2]
NP_001139568.1, NM_001146096.1 [Q9Y2M0-2]
NP_055782.3, NM_014967.4 [Q9Y2M0-1]
XP_005254289.1, XM_005254232.4 [Q9Y2M0-1]
XP_005254291.1, XM_005254234.4 [Q9Y2M0-1]
XP_005254292.1, XM_005254235.3 [Q9Y2M0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000362065; ENSP00000354497; ENSG00000198690 [Q9Y2M0-1]
ENST00000561594; ENSP00000455983; ENSG00000198690 [Q9Y2M0-2]
ENST00000561607; ENSP00000454223; ENSG00000198690 [Q9Y2M0-2]
ENST00000565466; ENSP00000454544; ENSG00000198690 [Q9Y2M0-2]
ENST00000621063; ENSP00000484956; ENSG00000276787 [Q9Y2M0-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		22909

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:22909

UCSC genome browser

More...UCSCi		uc001zfc.3 human [Q9Y2M0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023235 mRNA Translation: BAA76862.3 Different initiation.
AK290987 mRNA Translation: BAF83676.1
AC087481 Genomic DNA No translation available.
BC047882 mRNA Translation: AAH47882.1 Different initiation.
CCDSiCCDS32186.1 [Q9Y2M0-1]
CCDS58344.1 [Q9Y2M0-2]
RefSeqiNP_001139566.1, NM_001146094.1 [Q9Y2M0-2]
NP_001139567.1, NM_001146095.1 [Q9Y2M0-2]
NP_001139568.1, NM_001146096.1 [Q9Y2M0-2]
NP_055782.3, NM_014967.4 [Q9Y2M0-1]
XP_005254289.1, XM_005254232.4 [Q9Y2M0-1]
XP_005254291.1, XM_005254234.4 [Q9Y2M0-1]
XP_005254292.1, XM_005254235.3 [Q9Y2M0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4REAX-ray3.81A/B373-1017[»]
4REBX-ray4.20A/H373-1017[»]
4RECX-ray2.20A373-1017[»]
4RI8X-ray2.90A/B370-1017[»]
4RI9X-ray2.90A/B370-1017[»]
4RIAX-ray3.00A/B370-1017[»]
4RIBX-ray3.25A/B364-1017[»]
4RICX-ray2.80A/B370-1009[»]
4RIDX-ray3.30A/B370-1009[»]
4RY3X-ray2.80A371-1010[»]
SMRiQ9Y2M0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116573, 48 interactors
IntActiQ9Y2M0, 24 interactors
MINTiQ9Y2M0
STRINGi9606.ENSP00000354497

PTM databases

DEPODiQ9Y2M0
iPTMnetiQ9Y2M0
PhosphoSitePlusiQ9Y2M0

Polymorphism and mutation databases

BioMutaiFAN1
DMDMi160410012

Proteomic databases

EPDiQ9Y2M0
jPOSTiQ9Y2M0
PaxDbiQ9Y2M0
PeptideAtlasiQ9Y2M0
PRIDEiQ9Y2M0
ProteomicsDBi85841 [Q9Y2M0-1]
85842 [Q9Y2M0-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		22909
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000362065; ENSP00000354497; ENSG00000198690 [Q9Y2M0-1]
ENST00000561594; ENSP00000455983; ENSG00000198690 [Q9Y2M0-2]
ENST00000561607; ENSP00000454223; ENSG00000198690 [Q9Y2M0-2]
ENST00000565466; ENSP00000454544; ENSG00000198690 [Q9Y2M0-2]
ENST00000621063; ENSP00000484956; ENSG00000276787 [Q9Y2M0-1]
GeneIDi22909
KEGGihsa:22909
UCSCiuc001zfc.3 human [Q9Y2M0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		22909
DisGeNETi22909

GeneCards: human genes, protein and diseases

More...GeneCardsi		FAN1
HGNCiHGNC:29170 FAN1
HPAiHPA048198
MalaCardsiFAN1
MIMi613534 gene
614817 phenotype
neXtProtiNX_Q9Y2M0
OpenTargetsiENSG00000198690
Orphaneti401996 Karyomegalic interstitial nephritis
144 Lynch syndrome
PharmGKBiPA165478601

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2143 Eukaryota
ENOG410XRN3 LUCA
GeneTreeiENSGT00390000018637
HOGENOMiHOG000113686
InParanoidiQ9Y2M0
KOiK15363
OMAiFSPAWVY
OrthoDBi1003565at2759
PhylomeDBiQ9Y2M0
TreeFamiTF312870

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FAN1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		22909

Protein Ontology

More...PROi		PR:Q9Y2M0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198690 Expressed in 217 organ(s), highest expression level in tibia
ExpressionAtlasiQ9Y2M0 baseline and differential
GenevisibleiQ9Y2M0 HS

Family and domain databases

Gene3Di3.40.1350.10, 1 hit
InterProiView protein in InterPro
IPR033315 Fan1-like
IPR011856 tRNA_endonuc-like_dom_sf
IPR014883 VRR_NUC
IPR006642 Znf_Rad18_put
PANTHERiPTHR15749 PTHR15749, 1 hit
PfamiView protein in Pfam
PF08774 VRR_NUC, 1 hit
SMARTiView protein in SMART
SM00990 VRR_NUC, 1 hit
SM00734 ZnF_Rad18, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFAN1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y2M0
Secondary accession number(s): A8K4M2, Q86WU8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: July 31, 2019
This is version 130 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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