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Entry version 179 (08 May 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Fanconi anemia group C protein

Gene

FANCC

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

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.1 Publication

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q00597

<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 anemia group C protein
Short name:
Protein FACC
<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:FANCC
Synonyms:FAC, FACC
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3584 FANCC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613899 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q00597

<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 C (FANCC)7 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_005228195D → V in FANCC. 1 PublicationCorresponds to variant dbSNP:rs1800365EnsemblClinVar.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant dbSNP:rs121917785EnsemblClinVar.1
Natural variantiVAR_005233554L → P in FANCC; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. 6 PublicationsCorresponds to variant dbSNP:rs104886458EnsemblClinVar.1

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>Mutagenesisi64F → A: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi66T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication1
Mutagenesisi249S → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi251E → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi529T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication1
Mutagenesisi531Y → A: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
2176

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

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GeneReviewsi
FANCC

MalaCards human disease database

More...
MalaCardsi
FANCC
MIMi227645 phenotype

Open Targets

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OpenTargetsi
ENSG00000158169

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

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Orphaneti
84 Fanconi anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27997

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FANCC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1706762

<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_00000871841 – 558Fanconi anemia group C proteinAdd BLAST558

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q00597

MaxQB - The MaxQuant DataBase

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MaxQBi
Q00597

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

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PaxDbi
Q00597

PeptideAtlas

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PeptideAtlasi
Q00597

PRoteomics IDEntifications database

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PRIDEi
Q00597

ProteomicsDB human proteome resource

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ProteomicsDBi
57860

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q00597

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

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PhosphoSitePlusi
Q00597

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000158169 Expressed in 155 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q00597 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q00597 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017793
HPA030771

<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

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex may also include HSP70. The complex is not found in FA patients.

Interacts with ZBTB32. Upon IFNG induction, interacts with STAT1.

Interacts with CDK1.

Interacts with EIF2AK2; interaction between FA variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death.

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108473, 55 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q00597

Database of interacting proteins

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DIPi
DIP-32846N

Protein interaction database and analysis system

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IntActi
Q00597, 34 interactors

Molecular INTeraction database

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MINTi
Q00597

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000289081

<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

3D structure databases

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

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SMRi
Q00597

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IK3Y Eukaryota
ENOG411225E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016390

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000043097

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q00597

KEGG Orthology (KO)

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KOi
K10890

Identification of Orthologs from Complete Genome Data

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OMAi
LLGRLCW

Database of Orthologous Groups

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OrthoDBi
1546359at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q00597

TreeFam database of animal gene trees

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TreeFami
TF330803

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000686 FANCC

The PANTHER Classification System

More...
PANTHERi
PTHR16798 PTHR16798, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02106 Fanconi_C, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF018417 FACC_protein, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00494 FANCONICGENE

<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>Sequence (1+)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 has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q00597-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE
60 70 80 90 100
ALKEMDSNTV IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK
110 120 130 140 150
EPQNSGQSKL NSWIQGVLSH ILSALRFDKE VALFTQGLGY APIDYYPGLL
160 170 180 190 200
KNMVLSLASE LRENHLNGFN TQRRMAPERV ASLSRVCVPL ITLTDVDPLV
210 220 230 240 250
EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV CLWLRHLPSL
260 270 280 290 300
EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC
310 320 330 340 350
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM
360 370 380 390 400
VLLQDPQDIP RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF
410 420 430 440 450
GGWAEMVAEQ LLMSAAEPPT ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL
460 470 480 490 500
GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR APAQQLIRHL LLNFLLWAPG
510 520 530 540 550
GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES PRSEKLAREL

LKELRTQV
Length:558
Mass (Da):63,429
Last modified:October 1, 1996 - 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:iC9DDFFAC725D050C
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WW44A0A087WW44_HUMAN
Fanconi anemia group C protein
FANCC
492Annotation 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>
A0A0S2Z3N5A0A0S2Z3N5_HUMAN
Fanconi anemia complementation grou...
FANCC
119Annotation 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>
B1ALR7B1ALR7_HUMAN
Fanconi anemia group C protein
FANCC
150Annotation 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>
B4E3W2B4E3W2_HUMAN
Fanconi anemia group C protein
FANCC
115Annotation 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>
A0A3B3IU87A0A3B3IU87_HUMAN
Fanconi anemia group C protein
FANCC
153Annotation 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>
A0A3B3IS92A0A3B3IS92_HUMAN
Fanconi anemia group C protein
FANCC
131Annotation 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>
A0A3B3IS26A0A3B3IS26_HUMAN
Fanconi anemia group C protein
FANCC
135Annotation 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>
A0A3B3ITN9A0A3B3ITN9_HUMAN
Fanconi anemia group C protein
FANCC
58Annotation 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 conflicti294Missing in AAA53104 (PubMed:8490620).Curated1
Sequence conflicti438Missing in CAA47348 (PubMed:1574115).Curated1
Sequence conflicti438Missing in CAA47347 (PubMed:1574115).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00522526S → F1 PublicationCorresponds to variant dbSNP:rs1800361EnsemblClinVar.1
Natural variantiVAR_01633980I → T1 PublicationCorresponds to variant dbSNP:rs4647419EnsemblClinVar.1
Natural variantiVAR_005226139G → E3 PublicationsCorresponds to variant dbSNP:rs1800362EnsemblClinVar.1
Natural variantiVAR_005227190L → F1 PublicationCorresponds to variant dbSNP:rs1800364Ensembl.1
Natural variantiVAR_005228195D → V in FANCC. 1 PublicationCorresponds to variant dbSNP:rs1800365EnsemblClinVar.1
Natural variantiVAR_005229312I → V1 PublicationCorresponds to variant dbSNP:rs1800366EnsemblClinVar.1
Natural variantiVAR_005230449V → M2 PublicationsCorresponds to variant dbSNP:rs1800367EnsemblClinVar.1
Natural variantiVAR_005231465Q → R1 PublicationCorresponds to variant dbSNP:rs1800368EnsemblClinVar.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant dbSNP:rs121917785EnsemblClinVar.1
Natural variantiVAR_005233554L → P in FANCC; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. 6 PublicationsCorresponds to variant dbSNP:rs104886458EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X66894 mRNA Translation: CAA47348.1
X66893 mRNA Translation: CAA47347.1
L02664
, L02651, L02652, L02653, L02654, L02655, L02656, L02657, L02658, L02659, L02660, L02661, L02662, L02663 Genomic DNA Translation: AAA53104.1
AY220878 Genomic DNA Translation: AAO26042.1
AL157384 Genomic DNA No translation available.
AL354893 Genomic DNA No translation available.
CH471174 Genomic DNA Translation: EAW92626.1
BC015748 mRNA Translation: AAH15748.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS35071.1

Protein sequence database of the Protein Information Resource

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PIRi
S21733

NCBI Reference Sequences

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RefSeqi
NP_000127.2, NM_000136.2
NP_001230672.1, NM_001243743.1
XP_011516667.1, XM_011518365.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000289081; ENSP00000289081; ENSG00000158169
ENST00000375305; ENSP00000364454; ENSG00000158169

Database of genes from NCBI RefSeq genomes

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GeneIDi
2176

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2176

UCSC genome browser

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UCSCi
uc004avh.4 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_references_section">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
X66894 mRNA Translation: CAA47348.1
X66893 mRNA Translation: CAA47347.1
L02664
, L02651, L02652, L02653, L02654, L02655, L02656, L02657, L02658, L02659, L02660, L02661, L02662, L02663 Genomic DNA Translation: AAA53104.1
AY220878 Genomic DNA Translation: AAO26042.1
AL157384 Genomic DNA No translation available.
AL354893 Genomic DNA No translation available.
CH471174 Genomic DNA Translation: EAW92626.1
BC015748 mRNA Translation: AAH15748.1
CCDSiCCDS35071.1
PIRiS21733
RefSeqiNP_000127.2, NM_000136.2
NP_001230672.1, NM_001243743.1
XP_011516667.1, XM_011518365.2

3D structure databases

SMRiQ00597
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108473, 55 interactors
CORUMiQ00597
DIPiDIP-32846N
IntActiQ00597, 34 interactors
MINTiQ00597
STRINGi9606.ENSP00000289081

PTM databases

iPTMnetiQ00597
PhosphoSitePlusiQ00597

Polymorphism and mutation databases

BioMutaiFANCC
DMDMi1706762

Proteomic databases

EPDiQ00597
MaxQBiQ00597
PaxDbiQ00597
PeptideAtlasiQ00597
PRIDEiQ00597
ProteomicsDBi57860

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2176
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289081; ENSP00000289081; ENSG00000158169
ENST00000375305; ENSP00000364454; ENSG00000158169
GeneIDi2176
KEGGihsa:2176
UCSCiuc004avh.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2176
DisGeNETi2176

GeneCards: human genes, protein and diseases

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GeneCardsi
FANCC
GeneReviewsiFANCC
HGNCiHGNC:3584 FANCC
HPAiCAB017793
HPA030771
MalaCardsiFANCC
MIMi227645 phenotype
613899 gene
neXtProtiNX_Q00597
OpenTargetsiENSG00000158169
Orphaneti84 Fanconi anemia
PharmGKBiPA27997

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IK3Y Eukaryota
ENOG411225E LUCA
GeneTreeiENSGT00390000016390
HOGENOMiHOG000043097
InParanoidiQ00597
KOiK10890
OMAiLLGRLCW
OrthoDBi1546359at2759
PhylomeDBiQ00597
TreeFamiTF330803

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
SIGNORiQ00597

Miscellaneous databases

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

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ChiTaRSi
FANCC human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Fanconi_anemia,_complementation_group_C

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

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GenomeRNAii
2176

Protein Ontology

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PROi
PR:Q00597

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158169 Expressed in 155 organ(s), highest expression level in lung
ExpressionAtlasiQ00597 baseline and differential
GenevisibleiQ00597 HS

Family and domain databases

InterProiView protein in InterPro
IPR000686 FANCC
PANTHERiPTHR16798 PTHR16798, 1 hit
PfamiView protein in Pfam
PF02106 Fanconi_C, 1 hit
PIRSFiPIRSF018417 FACC_protein, 1 hit
PRINTSiPR00494 FANCONICGENE

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiFANCC_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: Q00597
Secondary accession number(s): B1ALR8
<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: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 8, 2019
This is version 179 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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