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Entry version 156 (03 Jul 2019)
Sequence version 2 (25 Oct 2005)
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Protein

Fanconi anemia group M protein

Gene

FANCM

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-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434).7 Publications

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi111 – 118ATPPROSITE-ProRule annotation8

<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

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

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6783310 Fanconi Anemia Pathway

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8IYD8

<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 M protein (EC:3.6.4.134 Publications)
Short name:
Protein FACM
Alternative name(s):
ATP-dependent RNA helicase FANCM
Fanconi anemia-associated polypeptide of 250 kDa
Short name:
FAAP2501 Publication
Protein Hef ortholog2 Publications
<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:FANCM
Synonyms:KIAA1596
<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 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:23168 FANCM

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609644 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IYD8

<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

Spermatogenic failure 28 (SPGF28)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia.
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_0811381701 – 2048Missing in POF15 and SPGF28; loss-of-function mutation resulting in impaired FANCD2 monoubiquitination in response to DNA damage. 2 PublicationsAdd BLAST348
Natural variantiVAR_0811391931 – 2048Missing in SPGF28; unknown pathological significance. 1 PublicationAdd BLAST118
Premature ovarian failure 15 (POF15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0811381701 – 2048Missing in POF15 and SPGF28; loss-of-function mutation resulting in impaired FANCD2 monoubiquitination in response to DNA damage. 2 PublicationsAdd BLAST348

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>Mutagenesisi116G → A: Reduces ATPase activity. 1 Publication1
Mutagenesisi117K → R: Abolishes ATPase activity. Loss of DNA branch migration activity, even in the presence of CENPS/CENPX. Loss of cross-linker resistance. No effect on FAAP24-binding, nor on FANCD2 and FANCI monoubiquitination. 4 Publications1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNET

More...
DisGeNETi
57697

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

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GeneReviewsi
FANCM

MalaCards human disease database

More...
MalaCardsi
FANCM
MIMi618086 phenotype
618096 phenotype

Open Targets

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OpenTargetsi
ENSG00000187790

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

More...
Orphaneti
84 Fanconi anemia
399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134943156

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FANCM

Domain mapping of disease mutations (DMDM)

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DMDMi
78099254

<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_00000551761 – 2048Fanconi anemia group M proteinAdd BLAST2048

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 residuei34PhosphoserineCombined sources1
Modified residuei1673PhosphoserineCombined sources1
Modified residuei1674PhosphoserineCombined sources1

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

Phosphorylated; hyperphosphorylated in response to genotoxic stress.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IYD8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IYD8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IYD8

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

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PaxDbi
Q8IYD8

PeptideAtlas

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PeptideAtlasi
Q8IYD8

PRoteomics IDEntifications database

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PRIDEi
Q8IYD8

ProteomicsDB human proteome resource

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ProteomicsDBi
71158
71159 [Q8IYD8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IYD8

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

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PhosphoSitePlusi
Q8IYD8

<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

Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults (PubMed:29231814). Expressed in the testis (PubMed:30075111).2 Publications

<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

Expressed throughout ovarian development (5-32 weeks post-fertilization (wpf)). Expression tends to be higher at 14 and 17 wpf.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000187790 Expressed in 160 organ(s), highest expression level in sperm

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IYD8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IYD8 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA055144

<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

Component of the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100 (PubMed:16116422, PubMed:16116434, PubMed:17289582). The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha/TOP3A, RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. This supercomplex between FA and BLM complexes has been called BRAFT (PubMed:20347428).

Forms a discrete complex with CENPS and CENPX, called FANCM-MHF; this interaction stimulates DNA binding and replication fork remodeling by FANCM and stabilizes the binding partners (PubMed:20347428, PubMed:20347429).

Forms a heterodimer with FAAP24; this interaction increases FANCM single-stranded DNA-binding activity (PubMed:17289582, PubMed:20347428).

5 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
121722, 46 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8IYD8

Database of interacting proteins

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DIPi
DIP-43972N

Protein interaction database and analysis system

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IntActi
Q8IYD8, 29 interactors

Molecular INTeraction database

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MINTi
Q8IYD8

STRING: functional protein association networks

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STRINGi
9606.ENSP00000267430

<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

12048
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
Q8IYD8

Database of comparative protein structure models

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ModBasei
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini98 – 266Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini452 – 627Helicase C-terminalPROSITE-ProRule annotationAdd BLAST176

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>Regioni661 – 800Interaction with CENPS/CENPSX1 PublicationAdd BLAST140
Regioni1727 – 2048Interaction with FAAP241 PublicationAdd BLAST322

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi214 – 217DEAH boxPROSITE-ProRule annotation4

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0354 Eukaryota
KOG0442 Eukaryota
COG1111 LUCA
COG1948 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156480

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112498

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IYD8

KEGG Orthology (KO)

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KOi
K10896

Identification of Orthologs from Complete Genome Data

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OMAi
ELHKMFI

Database of Orthologous Groups

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OrthoDBi
989616at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IYD8

TreeFam database of animal gene trees

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TreeFami
TF324610

Family and domain databases

Conserved Domains Database

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CDDi
cd00079 HELICc, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006166 ERCC4_domain
IPR031879 FANCM-MHF-bd
IPR006935 Helicase/UvrB_N
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR011335 Restrct_endonuc-II-like
IPR010994 RuvA_2-like

Pfam protein domain database

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Pfami
View protein in Pfam
PF02732 ERCC4, 1 hit
PF16783 FANCM-MHF_bd, 1 hit
PF00271 Helicase_C, 1 hit
PF04851 ResIII, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00891 ERCC4, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47781 SSF47781, 1 hit
SSF52540 SSF52540, 1 hit
SSF52980 SSF52980, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IYD8-1) [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
MSGRQRTLFQ TWGSSISRSS GTPGCSSGTE RPQSPGSSKA PLPAAAEAQL
60 70 80 90 100
ESDDDVLLVA AYEAERQLCL ENGGFCTSAG ALWIYPTNCP VRDYQLHISR
110 120 130 140 150
AALFCNTLVC LPTGLGKTFI AAVVMYNFYR WFPSGKVVFM APTKPLVTQQ
160 170 180 190 200
IEACYQVMGI PQSHMAEMTG STQASTRKEI WCSKRVLFLT PQVMVNDLSR
210 220 230 240 250
GACPAAEIKC LVIDEAHKAL GNYAYCQVVR ELVKYTNHFR ILALSATPGS
260 270 280 290 300
DIKAVQQVIT NLLIGQIELR SEDSPDILTY SHERKVEKLI VPLGEELAAI
310 320 330 340 350
QKTYIQILES FARSLIQRNV LMRRDIPNLT KYQIILARDQ FRKNPSPNIV
360 370 380 390 400
GIQQGIIEGE FAICISLYHG YELLQQMGMR SLYFFLCGIM DGTKGMTRSK
410 420 430 440 450
NELGRNEDFM KLYNHLECMF ARTRSTSANG ISAIQQGDKN KKFVYSHPKL
460 470 480 490 500
KKLEEVVIEH FKSWNAENTT EKKRDETRVM IFSSFRDSVQ EIAEMLSQHQ
510 520 530 540 550
PIIRVMTFVG HASGKSTKGF TQKEQLEVVK QFRDGGYNTL VSTCVGEEGL
560 570 580 590 600
DIGEVDLIIC FDSQKSPIRL VQRMGRTGRK RQGRIVIILS EGREERIYNQ
610 620 630 640 650
SQSNKRSIYK AISSNRQVLH FYQRSPRMVP DGINPKLHKM FITHGVYEPE
660 670 680 690 700
KPSRNLQRKS SIFSYRDGMR QSSLKKDWFL SEEEFKLWNR LYRLRDSDEI
710 720 730 740 750
KEITLPQVQF SSLQNEENKP AQESTTGIHQ LSLSEWRLWQ DHPLPTHQVD
760 770 780 790 800
HSDRCRHFIG LMQMIEGMRH EEGECSYELE VESYLQMEDV TSTFIAPRNE
810 820 830 840 850
SNNLASDTFI THKKSSFIKN INQGSSSSVI ESDEECAEIV KQTHIKPTKI
860 870 880 890 900
VSLKKKVSKE IKKDQLKKEN NHGIIDSVDN DRNSTVENIF QEDLPNDKRT
910 920 930 940 950
SDTDEIAATC TINENVIKEP CVLLTECQFT NKSTSSLAGN VLDSGYNSFN
960 970 980 990 1000
DEKSVSSNLF LPFEEELYIV RTDDQFYNCH SLTKEVLANV ERFLSYSPPP
1010 1020 1030 1040 1050
LSGLSDLEYE IAKGTALENL LFLPCAEHLR SDKCTCLLSH SAVNSQQNLE
1060 1070 1080 1090 1100
LNSLKCINYP SEKSCLYDIP NDNISDEPSL CDCDVHKHNQ NENLVPNNRV
1110 1120 1130 1140 1150
QIHRSPAQNL VGENNHDVDN SDLPVLSTDQ DESLLLFEDV NTEFDDVSLS
1160 1170 1180 1190 1200
PLNSKSESLP VSDKTAISET PLVSQFLISD ELLLDNNSEL QDQITRDANS
1210 1220 1230 1240 1250
FKSRDQRGVQ EEKVKNHEDI FDCSRDLFSV TFDLGFCSPD SDDEILEHTS
1260 1270 1280 1290 1300
DSNRPLDDLY GRYLEIKEIS DANYVSNQAL IPRDHSKNFT SGTVIIPSNE
1310 1320 1330 1340 1350
DMQNPNYVHL PLSAAKNEEL LSPGYSQFSL PVQKKVMSTP LSKSNTLNSF
1360 1370 1380 1390 1400
SKIRKEILKT PDSSKEKVNL QRFKEALNST FDYSEFSLEK SKSSGPMYLH
1410 1420 1430 1440 1450
KSCHSVEDGQ LLTSNESEDD EIFRRKVKRA KGNVLNSPED QKNSEVDSPL
1460 1470 1480 1490 1500
HAVKKRRFPI NRSELSSSDE SENFPKPCSQ LEDFKVCNGN ARRGIKVPKR
1510 1520 1530 1540 1550
QSHLKHVARK FLDDEAELSE EDAEYVSSDE NDESENEQDS SLLDFLNDET
1560 1570 1580 1590 1600
QLSQAINDSE MRAIYMKSLR SPMMNNKYKM IHKTHKNINI FSQIPEQDET
1610 1620 1630 1640 1650
YLEDSFCVDE EESCKGQSSE EEVCVDFNLI TDDCFANSKK YKTRRAVMLK
1660 1670 1680 1690 1700
EMMEQNCAHS KKKLSRIILP DDSSEEENNV NDKRESNIAV NPSTVKKNKQ
1710 1720 1730 1740 1750
QDHCLNSVPS GSSAQSKVRS TPRVNPLAKQ SKQTSLNLKD TISEVSDFKP
1760 1770 1780 1790 1800
QNHNEVQSTT PPFTTVDSQK DCRKFPVPQK DGSALEDSST SGASCSKSRP
1810 1820 1830 1840 1850
HLAGTHTSLR LPQEGKGTCI LVGGHEITSG LEVISSLRAI HGLQVEVCPL
1860 1870 1880 1890 1900
NGCDYIVSNR MVVERRSQSE MLNSVNKNKF IEQIQHLQSM FERICVIVEK
1910 1920 1930 1940 1950
DREKTGDTSR MFRRTKSYDS LLTTLIGAGI RILFSSCQEE TADLLKELSL
1960 1970 1980 1990 2000
VEQRKNVGIH VPTVVNSNKS EALQFYLSIP NISYITALNM CHQFSSVKRM
2010 2020 2030 2040
ANSSLQEISM YAQVTHQKAE EIYRYIHYVF DIQMLPNDLN QDRLKSDI
Length:2,048
Mass (Da):232,191
Last modified:October 25, 2005 - 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:iBDE0D6640B73C255
GO
Isoform 2 (identifier: Q8IYD8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     669-669: M → K
     670-2048: Missing.

Show »
Length:669
Mass (Da):75,579
Checksum:iA10DBC94FFA28C0B
GO
Isoform 3 (identifier: Q8IYD8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-253: Missing.

Note: No experimental confirmation available.
Show »
Length:2,022
Mass (Da):229,281
Checksum:iF31611E4697FA196
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJ14H0YJ14_HUMAN
Fanconi anemia group M protein
FANCM
1,016Annotation 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>
H0YJS3H0YJS3_HUMAN
Fanconi anemia group M protein
FANCM
1,564Annotation 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>
H0YJN7H0YJN7_HUMAN
Fanconi anemia group M protein
FANCM
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>
H0YJ45H0YJ45_HUMAN
Fanconi anemia group M protein
FANCM
106Annotation 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>

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

The sequence BAB13422 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti68L → F in BAC04159 (PubMed:14702039).Curated1
Sequence conflicti1460I → V in BAB13422 (PubMed:10997877).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023697175S → F. Corresponds to variant dbSNP:rs10138997EnsemblClinVar.1
Natural variantiVAR_061827208I → M. Corresponds to variant dbSNP:rs45547534EnsemblClinVar.1
Natural variantiVAR_023698878V → L1 PublicationCorresponds to variant dbSNP:rs1367580EnsemblClinVar.1
Natural variantiVAR_0811381701 – 2048Missing in POF15 and SPGF28; loss-of-function mutation resulting in impaired FANCD2 monoubiquitination in response to DNA damage. 2 PublicationsAdd BLAST348
Natural variantiVAR_0236991812P → A1 PublicationCorresponds to variant dbSNP:rs3736772EnsemblClinVar.1
Natural variantiVAR_0811391931 – 2048Missing in SPGF28; unknown pathological significance. 1 PublicationAdd BLAST118

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_054504228 – 253Missing in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_015989669M → K in isoform 2. 2 Publications1
Alternative sequenceiVSP_015990670 – 2048Missing in isoform 2. 2 PublicationsAdd BLAST1379

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
DQ140356 mRNA Translation: AAZ53290.1
AK093422 mRNA Translation: BAC04159.1
AL121809 Genomic DNA No translation available.
BC036056 mRNA Translation: AAH36056.1
BC140776 mRNA Translation: AAI40777.1
BC144511 mRNA Translation: AAI44512.1
AB046816 mRNA Translation: BAB13422.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32070.1 [Q8IYD8-1]
CCDS76677.1 [Q8IYD8-3]
CCDS81802.1 [Q8IYD8-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001295062.1, NM_001308133.1 [Q8IYD8-3]
NP_001295063.1, NM_001308134.1 [Q8IYD8-2]
NP_065988.1, NM_020937.3 [Q8IYD8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000267430; ENSP00000267430; ENSG00000187790 [Q8IYD8-1]
ENST00000542564; ENSP00000442493; ENSG00000187790 [Q8IYD8-3]
ENST00000556036; ENSP00000450596; ENSG00000187790 [Q8IYD8-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57697

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57697

UCSC genome browser

More...
UCSCi
uc001wwc.3 human [Q8IYD8-1]

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_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

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ140356 mRNA Translation: AAZ53290.1
AK093422 mRNA Translation: BAC04159.1
AL121809 Genomic DNA No translation available.
BC036056 mRNA Translation: AAH36056.1
BC140776 mRNA Translation: AAI40777.1
BC144511 mRNA Translation: AAI44512.1
AB046816 mRNA Translation: BAB13422.1 Sequence problems.
CCDSiCCDS32070.1 [Q8IYD8-1]
CCDS76677.1 [Q8IYD8-3]
CCDS81802.1 [Q8IYD8-2]
RefSeqiNP_001295062.1, NM_001308133.1 [Q8IYD8-3]
NP_001295063.1, NM_001308134.1 [Q8IYD8-2]
NP_065988.1, NM_020937.3 [Q8IYD8-1]

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
4BXOX-ray2.15A1798-2048[»]
4DAYX-ray3.30C1218-1251[»]
4DRBX-ray2.63C/F/I661-800[»]
4E45X-ray2.00E/J/O667-800[»]
4M6WX-ray2.90A1813-2031[»]
SMRiQ8IYD8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121722, 46 interactors
CORUMiQ8IYD8
DIPiDIP-43972N
IntActiQ8IYD8, 29 interactors
MINTiQ8IYD8
STRINGi9606.ENSP00000267430

PTM databases

iPTMnetiQ8IYD8
PhosphoSitePlusiQ8IYD8

Polymorphism and mutation databases

BioMutaiFANCM
DMDMi78099254

Proteomic databases

EPDiQ8IYD8
jPOSTiQ8IYD8
MaxQBiQ8IYD8
PaxDbiQ8IYD8
PeptideAtlasiQ8IYD8
PRIDEiQ8IYD8
ProteomicsDBi71158
71159 [Q8IYD8-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
57697
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267430; ENSP00000267430; ENSG00000187790 [Q8IYD8-1]
ENST00000542564; ENSP00000442493; ENSG00000187790 [Q8IYD8-3]
ENST00000556036; ENSP00000450596; ENSG00000187790 [Q8IYD8-2]
GeneIDi57697
KEGGihsa:57697
UCSCiuc001wwc.3 human [Q8IYD8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57697
DisGeNETi57697

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FANCM
GeneReviewsiFANCM
HGNCiHGNC:23168 FANCM
HPAiHPA055144
MalaCardsiFANCM
MIMi609644 gene
618086 phenotype
618096 phenotype
neXtProtiNX_Q8IYD8
OpenTargetsiENSG00000187790
Orphaneti84 Fanconi anemia
399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
PharmGKBiPA134943156

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0354 Eukaryota
KOG0442 Eukaryota
COG1111 LUCA
COG1948 LUCA
GeneTreeiENSGT00940000156480
HOGENOMiHOG000112498
InParanoidiQ8IYD8
KOiK10896
OMAiELHKMFI
OrthoDBi989616at2759
PhylomeDBiQ8IYD8
TreeFamiTF324610

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
SIGNORiQ8IYD8

Miscellaneous databases

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

More...
GenomeRNAii
57697

Protein Ontology

More...
PROi
PR:Q8IYD8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000187790 Expressed in 160 organ(s), highest expression level in sperm
ExpressionAtlasiQ8IYD8 baseline and differential
GenevisibleiQ8IYD8 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR006166 ERCC4_domain
IPR031879 FANCM-MHF-bd
IPR006935 Helicase/UvrB_N
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR011335 Restrct_endonuc-II-like
IPR010994 RuvA_2-like
PfamiView protein in Pfam
PF02732 ERCC4, 1 hit
PF16783 FANCM-MHF_bd, 1 hit
PF00271 Helicase_C, 1 hit
PF04851 ResIII, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00891 ERCC4, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF47781 SSF47781, 1 hit
SSF52540 SSF52540, 1 hit
SSF52980 SSF52980, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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 nameiFANCM_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: Q8IYD8
Secondary accession number(s): B2RTQ9
, Q3YFH9, Q8N9X6, Q9HCH6
<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 25, 2005
Last sequence update: October 25, 2005
Last modified: July 3, 2019
This is version 156 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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