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UniProtKB - Q9NW38 (FANCL_HUMAN)

Entry version 173 (17 Jun 2020)
Sequence version 2 (17 Oct 2006)
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Protein

E3 ubiquitin-protein ligase FANCL

Gene

FANCL

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

Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.6 Publications

Caution

Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi307Zinc 1Combined sources1
Metal bindingi310Zinc 1Combined sources1
Metal bindingi324Zinc 2Combined sources1
Metal bindingi329Zinc 2Combined sources1
Metal bindingi334Zinc 1; via pros nitrogenCombined sources1
Metal bindingi337Zinc 1Combined sources1
Metal bindingi359Zinc 2Combined sources1
Metal bindingi362Zinc 2Combined sources1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri307 – 365RING-typeAdd BLAST59

<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 functionTransferase
Biological processDNA damage, DNA repair, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<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%5Fand%5Ftaxonomy%5Fsection">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:
E3 ubiquitin-protein ligase FANCL (EC:2.3.2.274 Publications)
Alternative name(s):
Fanconi anemia group L protein
Fanconi anemia-associated polypeptide of 43 kDa
Short name:
FAAP43
RING-type E3 ubiquitin transferase FANCLCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:FANCL
Synonyms:PHF9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000115392.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:20748 FANCL

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608111 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NW38

<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

Cytoplasm, 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

Fanconi anemia complementation group L (FANCL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi127 – 128VY → AA: No effect on interaction with FANCI and FANCD2. 1 Publication2
Mutagenesisi149L → A: No effect on interaction with FANCI and FANCD2; when associated with A-166. 1 Publication1
Mutagenesisi158 – 159YP → AA: Abolishes UBE2T charging. 1 Publication2
Mutagenesisi166F → A: Does not affect interaction with FANCI and FANCD2; when associated with A-149. 1 Publication1
Mutagenesisi212 – 214WVL → AVA: Impairs interaction with FANCI and FANCD2. 1 Publication3
Mutagenesisi248L → A: Impairs interaction with FANCI and FANCD2; when associated with A-252, A-254 and A-265. 1 Publication1
Mutagenesisi252F → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-254 and A-265. 1 Publication1
Mutagenesisi254L → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-265. 1 Publication1
Mutagenesisi265I → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-254. 1 Publication1
Mutagenesisi307C → A: Abolishes ubiquitin ligase activity. 5 Publications1
Mutagenesisi309I → A: Loss of interaction with UBE2T. 1 Publication1
Mutagenesisi310C → A: Abolishes ubiquitin ligase activity. 2 Publications1
Mutagenesisi311Y → A: Loss of interaction with UBE2T. 1 Publication1
Mutagenesisi341W → A: Loss of interaction with UBE2T. 1 Publication1
Mutagenesisi341W → G: Abolishes interaction with UBE2T and ubiquitin ligase activity. 1 Publication1
Mutagenesisi359C → A: Abolishes ubiquitin ligase activity. 1 Publication1

Keywords - Diseasei

Fanconi anemia

Organism-specific databases

DisGeNET

More...DisGeNETi		55120

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FANCL

MalaCards human disease database

More...MalaCardsi		FANCL
MIMi614083 phenotype

Open Targets

More...OpenTargetsi		ENSG00000115392

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

More...Orphaneti		84 Fanconi anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134887656

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NW38 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FANCL

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241360

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000559082 – 375E3 ubiquitin-protein ligase FANCLAdd BLAST374

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 residuei2N-acetylalanineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NW38

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NW38

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NW38

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NW38

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

More...PaxDbi		Q9NW38

PeptideAtlas

More...PeptideAtlasi		Q9NW38

PRoteomics IDEntifications database

More...PRIDEi		Q9NW38

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82894 [Q9NW38-1]
82895 [Q9NW38-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NW38

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

More...PhosphoSitePlusi		Q9NW38

<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		ENSG00000115392 Expressed in corpus callosum and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NW38 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NW38 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000115392 Tissue enhanced (pituitary)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (PubMed:12973351, PubMed:15502827, PubMed:16116422, PubMed:22343915). The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins (PubMed:18550849).

Interacts with FANCI (PubMed:21775430). Directly interacts (via the RING-type zinc finger) with UBE2T and UBE2W (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:21775430, PubMed:24389026).

By similarity10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
Q9NW38
With#Exp.IntAct
ANKRD55 [Q3KP44]3EBI-2339898,EBI-14493093
ANTKMT [Q9BQD7]3EBI-2339898,EBI-713602
ARHGEF9 [O43307]3EBI-2339898,EBI-3447299
C19orf54 - isoform 3 [Q5BKX5-3]3EBI-2339898,EBI-11976299
CADPS [A2RRN7]3EBI-2339898,EBI-10179719
CCDC36 [Q8IYA8]3EBI-2339898,EBI-8638439
CERCAM [Q5T4B2]3EBI-2339898,EBI-12261896
CHCHD3 [Q9NX63]6EBI-2339898,EBI-743375
CTDSP1 [Q9GZU7]3EBI-2339898,EBI-751587
CYB5R2 - isoform 2 [Q6BCY4-2]3EBI-2339898,EBI-12102608
CYSRT1 [A8MQ03]3EBI-2339898,EBI-3867333
DDAH2 [O95865]3EBI-2339898,EBI-749139
DOCK8 - isoform 2 [Q8NF50-2]3EBI-2339898,EBI-10174653
EIF4ENIF1 [Q9NRA8]3EBI-2339898,EBI-301024
GATA1 - isoform 2 [P15976-2]3EBI-2339898,EBI-9090198
GRN [P28799]3EBI-2339898,EBI-747754
HDHD3 [Q9BSH5]3EBI-2339898,EBI-745201
HOXD4 [P09016]3EBI-2339898,EBI-12822515
ID2 [Q02363]3EBI-2339898,EBI-713450
IKZF3 [Q9UKT9]3EBI-2339898,EBI-747204
KIFC3 [Q9BVG8]3EBI-2339898,EBI-2125614
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-2339898,EBI-14069005
KRTAP11-1 [Q8IUC1]3EBI-2339898,EBI-1052037
KRTAP13-2 [Q52LG2]3EBI-2339898,EBI-11953846
KRTAP19-6 [Q3LI70]3EBI-2339898,EBI-12805508
LZTS2 [Q9BRK4]3EBI-2339898,EBI-741037
METTL15 - isoform 4 [A6NJ78-4]3EBI-2339898,EBI-10174029
MORN3 [Q6PF18]3EBI-2339898,EBI-9675802
PSMB3 [P49720]3EBI-2339898,EBI-603340
RBM45 [Q8IUH3]3EBI-2339898,EBI-2512147
RIMBP3 [Q9UFD9]3EBI-2339898,EBI-10182375
RNF11 [Q9Y3C5]3EBI-2339898,EBI-396669
SCNM1 [Q9BWG6]3EBI-2339898,EBI-748391
SNF8 [Q96H20]3EBI-2339898,EBI-747719
SRGAP3 [Q8IXS7]3EBI-2339898,EBI-18616594
SSX2IP [Q9Y2D8]3EBI-2339898,EBI-2212028
TFCP2 [Q12800]3EBI-2339898,EBI-717422
TTC23 - isoform 3 [Q5W5X9-3]3EBI-2339898,EBI-9090990
UFSP1 [Q6NVU6]3EBI-2339898,EBI-12068150
ZMAT5 [Q9UDW3]3EBI-2339898,EBI-7850213
ZNF224 [Q9NZL3]3EBI-2339898,EBI-12357267
ZNF581 [Q9P0T4]3EBI-2339898,EBI-745520
ZNF774 [Q6NX45]3EBI-2339898,EBI-10251462
Isoform 1 [Q9NW38-1]
With#Exp.IntAct
UBE2T [Q9NPD8]3EBI-16088720,EBI-2130165

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120429, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NW38

Database of interacting proteins

More...DIPi		DIP-43975N

Protein interaction database and analysis system

More...IntActi		Q9NW38, 54 interactors

Molecular INTeraction database

More...MINTi		Q9NW38

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385021

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NW38 protein

<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

1375
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		Q9NW38

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni104 – 294UBC-RWD region (URD)Add BLAST191

<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 UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri307 – 365RING-typeAdd BLAST59

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3268 Eukaryota
ENOG410YC2U LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005537

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NW38

KEGG Orthology (KO)

More...KOi		K10606

Identification of Orthologs from Complete Genome Data

More...OMAi		EIDQKTW

Database of Orthologous Groups

More...OrthoDBi		1002812at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NW38

TreeFam database of animal gene trees

More...TreeFami		TF323571

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.110.10, 1 hit
3.10.110.20, 1 hit
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026848 Fancl
IPR026850 FANCL_C
IPR043003 FancL_N
IPR019162 FancL_WD-rpt_cont_dom
IPR016135 UBQ-conjugating_enzyme/RWD
IPR013083 Znf_RING/FYVE/PHD

The PANTHER Classification System

More...PANTHERi		PTHR13206 PTHR13206, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11793 FANCL_C, 1 hit
PF09765 WD-3, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NW38-1) [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
MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN 
        60         70         80         90        100
ARLLCSWQLR TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE 
       110        120        130        140        150
LYALPPPPQF YSSLIEEIGT LGWDKLVYAD TCFSTIKLKA EDASGREHLI 
       160        170        180        190        200
TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ SSLISIYSQF LAAIESLKAF 
       210        220        230        240        250
WDVMDEIDEK TWVLEPEKPP RSATARRIAL GNNVSINIEV DPRHPTMLPE 
       260        270        280        290        300
CFFLGADHVV KPLGIKLSRN IHLWDPENSV LQNLKDVLEI DFPARAILEK 
       310        320        330        340        350
SDFTMDCGIC YAYQLDGTIP DQVCDNSQCG QPFHQICLYE WLRGLLTSRQ 
       360        370 
SFNIIFGECP YCSKPITLKM SGRKH
Length:375
Mass (Da):42,905
Last modified:October 17, 2006 - v2
<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:iE217DF9D64587E5E
GO
Isoform 2 (identifier: Q9NW38-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     178-178: T → TPQVNS

Show »
Length:380
Mass (Da):43,430
Checksum:iA5FA331CCC1C9C1E
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MC31B5MC31_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
347Annotation 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>
C9JZA9C9JZA9_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
301Annotation 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>
H7C1M0H7C1M0_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
288Annotation 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>
B5MCZ6B5MCZ6_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
258Annotation score:

Annotation score:1 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>
C9J512C9J512_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
158Annotation score:

Annotation score:1 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>
C9JPN7C9JPN7_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
145Annotation score:

Annotation score:1 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>
A0A087X0C0A0A087X0C0_HUMAN
E3 ubiquitin-protein ligase FANCL
FANCL
124Annotation score:

Annotation score:1 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 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 conflicti77S → P in BAA91548 (PubMed:14702039).Curated1

Natural variant

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_052082144S → F. Corresponds to variant dbSNP:rs36059257Ensembl.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_041727178T → TPQVNS in isoform 2. 1 Publication1

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
AK001197 mRNA Translation: BAA91548.1
AC007250 Genomic DNA Translation: AAY15020.1
BC009042 mRNA Translation: AAH09042.1
BC054517 mRNA Translation: AAH54517.1
BC037570 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1860.1 [Q9NW38-1]
CCDS46294.1 [Q9NW38-2]

NCBI Reference Sequences

More...RefSeqi		NP_001108108.1, NM_001114636.1 [Q9NW38-2]
NP_060532.2, NM_018062.3 [Q9NW38-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000233741; ENSP00000233741; ENSG00000115392 [Q9NW38-1]
ENST00000402135; ENSP00000385021; ENSG00000115392 [Q9NW38-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55120

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55120

UCSC genome browser

More...UCSCi		uc002rzw.5 human [Q9NW38-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001197 mRNA Translation: BAA91548.1
AC007250 Genomic DNA Translation: AAY15020.1
BC009042 mRNA Translation: AAH09042.1
BC054517 mRNA Translation: AAH54517.1
BC037570 mRNA No translation available.
CCDSiCCDS1860.1 [Q9NW38-1]
CCDS46294.1 [Q9NW38-2]
RefSeqiNP_001108108.1, NM_001114636.1 [Q9NW38-2]
NP_060532.2, NM_018062.3 [Q9NW38-1]

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
3ZQSX-ray2.00A/B109-294[»]
4CCGX-ray2.40X/Y288-375[»]
SMRiQ9NW38
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120429, 42 interactors
CORUMiQ9NW38
DIPiDIP-43975N
IntActiQ9NW38, 54 interactors
MINTiQ9NW38
STRINGi9606.ENSP00000385021

PTM databases

iPTMnetiQ9NW38
PhosphoSitePlusiQ9NW38

Polymorphism and mutation databases

BioMutaiFANCL
DMDMi116241360

Proteomic databases

EPDiQ9NW38
jPOSTiQ9NW38
MassIVEiQ9NW38
MaxQBiQ9NW38
PaxDbiQ9NW38
PeptideAtlasiQ9NW38
PRIDEiQ9NW38
ProteomicsDBi82894 [Q9NW38-1]
82895 [Q9NW38-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30496 209 antibodies

Genome annotation databases

EnsembliENST00000233741; ENSP00000233741; ENSG00000115392 [Q9NW38-1]
ENST00000402135; ENSP00000385021; ENSG00000115392 [Q9NW38-2]
GeneIDi55120
KEGGihsa:55120
UCSCiuc002rzw.5 human [Q9NW38-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55120
DisGeNETi55120
EuPathDBiHostDB:ENSG00000115392.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		FANCL
GeneReviewsiFANCL
HGNCiHGNC:20748 FANCL
HPAiENSG00000115392 Tissue enhanced (pituitary)
MalaCardsiFANCL
MIMi608111 gene
614083 phenotype
neXtProtiNX_Q9NW38
OpenTargetsiENSG00000115392
Orphaneti84 Fanconi anemia
PharmGKBiPA134887656

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3268 Eukaryota
ENOG410YC2U LUCA
GeneTreeiENSGT00390000005537
InParanoidiQ9NW38
KOiK10606
OMAiEIDQKTW
OrthoDBi1002812at2759
PhylomeDBiQ9NW38
TreeFamiTF323571

Enzyme and pathway databases

UniPathwayiUPA00143
ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55120 63 hits in 791 CRISPR screens

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

More...ChiTaRSi		FANCL human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FANCL

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

More...GenomeRNAii		55120
PharosiQ9NW38 Tbio

Protein Ontology

More...PROi		PR:Q9NW38
RNActiQ9NW38 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115392 Expressed in corpus callosum and 226 other tissues
ExpressionAtlasiQ9NW38 baseline and differential
GenevisibleiQ9NW38 HS

Family and domain databases

Gene3Di3.10.110.10, 1 hit
3.10.110.20, 1 hit
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR026848 Fancl
IPR026850 FANCL_C
IPR043003 FancL_N
IPR019162 FancL_WD-rpt_cont_dom
IPR016135 UBQ-conjugating_enzyme/RWD
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR13206 PTHR13206, 1 hit
PfamiView protein in Pfam
PF11793 FANCL_C, 1 hit
PF09765 WD-3, 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 nameiFANCL_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: Q9NW38
Secondary accession number(s): Q6GU60
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 17, 2006
Last modified: June 17, 2020
This is version 173 of the entry and version 2 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, Reference proteome

Documents

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