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Entry version 162 (12 Aug 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Fanconi anemia group E protein

Gene

FANCE

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

As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.2 Publications

<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 - Biological processi

<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

Biological processDNA damage, DNA repair

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HB96

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9HB96

<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:
Fanconi anemia group E protein
Short name:
Protein FACE
<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:FANCE
Synonyms:FACE
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000112039.3

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3586, FANCE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613976, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HB96

<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

Fanconi anemia complementation group E (FANCE)2 Publications
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
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_038022184P → Q in FANCE; uncertain pathological significance. 1 Publication1

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>Mutagenesisi346T → A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-374. 1 Publication1
Mutagenesisi374S → A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-346. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
2178

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

More...
GeneReviewsi
FANCE

MalaCards human disease database

More...
MalaCardsi
FANCE
MIMi600901, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000112039

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
PA28000

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HB96, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FANCE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
45476978

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000871871 – 536Fanconi anemia group E proteinAdd BLAST536

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 residuei249PhosphoserineCombined sources1
Modified residuei346Phosphothreonine; by CHEK11 Publication1
Modified residuei374Phosphoserine; by CHEK11 Publication1

<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

Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair.1 Publication
Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HB96

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HB96

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HB96

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HB96

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

More...
PaxDbi
Q9HB96

PeptideAtlas

More...
PeptideAtlasi
Q9HB96

PRoteomics IDEntifications database

More...
PRIDEi
Q9HB96

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81510

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9HB96

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HB96

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

More...
PhosphoSitePlusi
Q9HB96

<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
ENSG00000112039, Expressed in female gonad and 169 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HB96, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HB96, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000112039, Low tissue specificity

<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

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.

Interacts with FANCC and FANCD2.

5 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
108475, 29 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9HB96

Database of interacting proteins

More...
DIPi
DIP-32845N

Protein interaction database and analysis system

More...
IntActi
Q9HB96, 13 interactors

Molecular INTeraction database

More...
MINTi
Q9HB96

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000229769

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HB96, 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

1536
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

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SMRi
Q9HB96

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HB96

<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>Regioni150 – 371Interaction with FANCC1 PublicationAdd BLAST222

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQV6, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000705

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_037283_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HB96

KEGG Orthology (KO)

More...
KOi
K10892

Identification of Orthologs from Complete Genome Data

More...
OMAi
EERPEHK

Database of Orthologous Groups

More...
OrthoDBi
575714at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HB96

TreeFam database of animal gene trees

More...
TreeFami
TF330720

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07439, FANCE_c-term, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039685, FANCE
IPR021025, Fanconi_anaemia_gr_E_prot_C

The PANTHER Classification System

More...
PANTHERi
PTHR32094, PTHR32094, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11510, FA_FANCE, 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>Sequence (1+)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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9HB96-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL
60 70 80 90 100
GSRGWEPFDW GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS
110 120 130 140 150
LLMAVRPSLP ESGLLSVLQI AQQDLAPDPD AWLRALGELL RRDLGVGTSM
160 170 180 190 200
EGASPLSERC QRQLQSLCRG LGLGGRRLKS PQAPDPEEEE NRDSQQPGKR
210 220 230 240 250
RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE SLADGGSASP
260 270 280 290 300
IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE
310 320 330 340 350
GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA
360 370 380 390 400
LSPDLSLSNA TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS
410 420 430 440 450
ALLDPVLQAP GTGPAQTELL CCLVKMESLE PDAQVLMLGQ ILELPWKEET
460 470 480 490 500
FLVLQSLLER QVEMTPEKFS VLMEKLCKKG LAATTSMAYA KLMLTVMTKY
510 520 530
QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP
Length:536
Mass (Da):58,711
Last modified:March 1, 2001 - v1
<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:i0E94D8C469C791A5
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITU7A0A3B3ITU7_HUMAN
Fanconi anemia group E protein
FANCE
503Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02337289R → L1 PublicationCorresponds to variant dbSNP:rs45600543EnsemblClinVar.1
Natural variantiVAR_038022184P → Q in FANCE; uncertain pathological significance. 1 Publication1
Natural variantiVAR_023373204S → L1 PublicationCorresponds to variant dbSNP:rs7761870EnsemblClinVar.1
Natural variantiVAR_023374340G → R1 PublicationCorresponds to variant dbSNP:rs45524646EnsemblClinVar.1
Natural variantiVAR_023375343R → Q1 PublicationCorresponds to variant dbSNP:rs45467798EnsemblClinVar.1
Natural variantiVAR_023376502A → T1 PublicationCorresponds to variant dbSNP:rs9462088EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF265210 mRNA Translation: AAG16743.1
DQ020173 Genomic DNA Translation: AAY26395.1
AK292522 mRNA Translation: BAF85211.1
AL022721 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03830.1
BC046359 mRNA Translation: AAH46359.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4805.1

NCBI Reference Sequences

More...
RefSeqi
NP_068741.1, NM_021922.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000229769; ENSP00000229769; ENSG00000112039

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2178

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2178

UCSC genome browser

More...
UCSCi
uc003oko.2, human

Keywords - Coding sequence diversityi

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

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF265210 mRNA Translation: AAG16743.1
DQ020173 Genomic DNA Translation: AAY26395.1
AK292522 mRNA Translation: BAF85211.1
AL022721 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03830.1
BC046359 mRNA Translation: AAH46359.1
CCDSiCCDS4805.1
RefSeqiNP_068741.1, NM_021922.2

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
2ILRX-ray2.00A273-536[»]
SMRiQ9HB96
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108475, 29 interactors
CORUMiQ9HB96
DIPiDIP-32845N
IntActiQ9HB96, 13 interactors
MINTiQ9HB96
STRINGi9606.ENSP00000229769

PTM databases

iPTMnetiQ9HB96
PhosphoSitePlusiQ9HB96

Polymorphism and mutation databases

BioMutaiFANCE
DMDMi45476978

Proteomic databases

EPDiQ9HB96
jPOSTiQ9HB96
MassIVEiQ9HB96
MaxQBiQ9HB96
PaxDbiQ9HB96
PeptideAtlasiQ9HB96
PRIDEiQ9HB96
ProteomicsDBi81510
TopDownProteomicsiQ9HB96

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
4446, 187 antibodies

Genome annotation databases

EnsembliENST00000229769; ENSP00000229769; ENSG00000112039
GeneIDi2178
KEGGihsa:2178
UCSCiuc003oko.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2178
DisGeNETi2178
EuPathDBiHostDB:ENSG00000112039.3

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FANCE
GeneReviewsiFANCE
HGNCiHGNC:3586, FANCE
HPAiENSG00000112039, Low tissue specificity
MalaCardsiFANCE
MIMi600901, phenotype
613976, gene
neXtProtiNX_Q9HB96
OpenTargetsiENSG00000112039
Orphaneti84, Fanconi anemia
PharmGKBiPA28000

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQV6, Eukaryota
GeneTreeiENSGT00390000000705
HOGENOMiCLU_037283_0_0_1
InParanoidiQ9HB96
KOiK10892
OMAiEERPEHK
OrthoDBi575714at2759
PhylomeDBiQ9HB96
TreeFamiTF330720

Enzyme and pathway databases

PathwayCommonsiQ9HB96
ReactomeiR-HSA-6783310, Fanconi Anemia Pathway
SIGNORiQ9HB96

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
2178, 28 hits in 874 CRISPR screens
EvolutionaryTraceiQ9HB96

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
FANCE

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

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GenomeRNAii
2178
PharosiQ9HB96, Tbio

Protein Ontology

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PROi
PR:Q9HB96
RNActiQ9HB96, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000112039, Expressed in female gonad and 169 other tissues
ExpressionAtlasiQ9HB96, baseline and differential
GenevisibleiQ9HB96, HS

Family and domain databases

CDDicd07439, FANCE_c-term, 1 hit
InterProiView protein in InterPro
IPR039685, FANCE
IPR021025, Fanconi_anaemia_gr_E_prot_C
PANTHERiPTHR32094, PTHR32094, 1 hit
PfamiView protein in Pfam
PF11510, FA_FANCE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiFANCE_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: Q9HB96
Secondary accession number(s): A8K907, Q4ZGH2
<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: March 15, 2004
Last sequence update: March 1, 2001
Last modified: August 12, 2020
This is version 162 of the entry and version 1 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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