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UniProtKB - Q9UI95 (MD2L2_HUMAN)

Entry version 164 (03 Jul 2019)
Sequence version 2 (11 Jan 2001)
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Protein

Mitotic spindle assembly checkpoint protein MAD2B

Gene

MAD2L2

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

Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654).7 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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Biological processCell cycle, Cell division, DNA damage, DNA repair, Mitosis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-110312 Translesion synthesis by REV1
R-HSA-5655862 Translesion synthesis by POLK
R-HSA-5656121 Translesion synthesis by POLI

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UI95

<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:
Mitotic spindle assembly checkpoint protein MAD2B
Alternative name(s):
Mitotic arrest deficient 2-like protein 2
Short name:
MAD2-like protein 2
REV7 homolog
Short name:
hREV7
<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:MAD2L2
Synonyms:MAD2B, REV7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6764 MAD2L2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604094 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UI95

<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

Chromosome, Cytoplasm, Cytoskeleton, 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 V (FANCV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
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_07798185V → E in FANCV; drastically reduced protein abundance. 1 PublicationCorresponds to variant dbSNP:rs1057517674EnsemblClinVar.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>Mutagenesisi63Y → A: Alters interaction with REV3L. Loss of interaction with REV3L; when associated with A-171. 1 Publication1
Mutagenesisi124R → A: Induces structural changes that increase affinity for REV3L and REV1. No effect on interaction with REV1; when associated with A-171. 1 Publication1
Mutagenesisi171W → A: Alters interaction with REV3L and REV1. Loss of interaction with REV3L; when associated with A-63. No effect on interaction with REV1; when associated with A-124. 1 Publication1
Mutagenesisi186L → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication1
Mutagenesisi200Q → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication1
Mutagenesisi202Y → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

More...DisGeNETi		10459

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

More...GeneReviewsi		MAD2L2

MalaCards human disease database

More...MalaCardsi		MAD2L2
MIMi617243 phenotype

Open Targets

More...OpenTargetsi		ENSG00000116670

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		PA398

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAD2L2

<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_00001261191 – 211Mitotic spindle assembly checkpoint protein MAD2BAdd BLAST211

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UI95

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UI95

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UI95

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

More...PaxDbi		Q9UI95

PeptideAtlas

More...PeptideAtlasi		Q9UI95

PRoteomics IDEntifications database

More...PRIDEi		Q9UI95

ProteomicsDB human proteome resource

More...ProteomicsDBi		84481

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9UI95

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UI95

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

More...PhosphoSitePlusi		Q9UI95

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116670 Expressed in 182 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UI95 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UI95 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB008110
HPA024176

<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

Homooligomer (Probable). Heterodimer with REV3L (PubMed:10660610, PubMed:11485998). This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context (PubMed:11485998).

Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta (PubMed:24449906).

Component of the shieldin complex, consisting of SHLD1, SHLD2, SHLD3 and MAD2L2/REV7 (PubMed:29656893, PubMed:29789392). Within the complex, SHLD2 forms a scaffold which interacts with a SHLD3-MAD2L2 subcomplex via its N-terminus, and with SHLD1 via its C-terminus (PubMed:29656893).

Interacts with REV1 (PubMed:11485998, PubMed:20164194).

Interacts with ADAM9 (PubMed:10527948).

Interacts with CHAMP1 (PubMed:21063390).

Interacts with FZR1 (in complex with the anaphase promoting complex APC) (PubMed:11459825, PubMed:11459826).

Interacts with CDC20; PubMed:11459825 could not detect the interaction (PubMed:11459826).

Interacts with RAN (PubMed:19753112).

Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters (PubMed:17296730). May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage (PubMed:17296730).

Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity (PubMed:19443654).

Interacts with YY1AP1 (PubMed:17541814).

Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest (PubMed:17719540).

Interacts with PRCC; the interaction is direct (PubMed:11717438).

Interacts with POGZ (PubMed:20850016).

Curated17 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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115722, 70 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3481 Shieldin complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UI95

Protein interaction database and analysis system

More...IntActi		Q9UI95, 145 interactors

Molecular INTeraction database

More...MINTi		Q9UI95

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000235310

<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

1211
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9UI95

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UI95

<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>Domaini13 – 203HORMAPROSITE-ProRule annotationAdd BLAST191

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>Regioni21 – 155Mediates interaction with REV1 and REV3L and homodimerizationAdd BLAST135
Regioni150 – 211Mediates interaction with ipaBAdd BLAST62

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3186 Eukaryota
ENOG4111I7Q LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153395

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231083

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UI95

KEGG Orthology (KO)

More...KOi		K13728

Database of Orthologous Groups

More...OrthoDBi		1630737at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UI95

TreeFam database of animal gene trees

More...TreeFami		TF101085

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.900.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003511 HORMA_dom
IPR036570 HORMA_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02301 HORMA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56019 SSF56019, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50815 HORMA, 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>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 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UI95-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTLTRQDLN FGQVVADVLC EFLEVAVHLI LYVREVYPVG IFQKRKKYNV 
        60         70         80         90        100
PVQMSCHPEL NQYIQDTLHC VKPLLEKNDV EKVVVVILDK EHRPVEKFVF 
       110        120        130        140        150
EITQPPLLSI SSDSLLSHVE QLLRAFILKI SVCDAVLDHN PPGCTFTVLV 
       160        170        180        190        200
HTREAATRNM EKIQVIKDFP WILADEQDVH MHDPRLIPLK TMTSDILKMQ 
       210 
LYVEERAHKG S
Length:211
Mass (Da):24,334
Last modified:January 11, 2001 - 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:i1DE6353EF7D650B9
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AK43B1AK43_HUMAN
Mitotic spindle assembly checkpoint...
MAD2L2
197Annotation 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>
B1AK45B1AK45_HUMAN
Mitotic spindle assembly checkpoint...
MAD2L2
167Annotation 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>
B1AK44B1AK44_HUMAN
Mitotic spindle assembly checkpoint...
MAD2L2
224Annotation 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 conflicti17D → A in AAD30290 (PubMed:10366450).Curated1
Sequence conflicti96E → D in AAF20267 (Ref. 2) Curated1
Sequence conflicti199M → V in AAF20267 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07798185V → E in FANCV; drastically reduced protein abundance. 1 PublicationCorresponds to variant dbSNP:rs1057517674EnsemblClinVar.1

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
AF072933 mRNA Translation: AAD41647.1
AF080398 mRNA Translation: AAF20267.1
AF139365 mRNA Translation: AAD30290.1
AF157482 mRNA Translation: AAF34357.1
AK027327 mRNA Translation: BAG51305.1
AK094316 mRNA Translation: BAG52858.1
DQ017900 Genomic DNA Translation: AAY26393.1
AL031731 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71697.1
BC015244 mRNA Translation: AAH15244.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS134.1

NCBI Reference Sequences

More...RefSeqi		NP_001120797.1, NM_001127325.1
NP_006332.3, NM_006341.3
XP_011538809.1, XM_011540507.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000235310; ENSP00000235310; ENSG00000116670
ENST00000376667; ENSP00000365855; ENSG00000116670
ENST00000376692; ENSP00000365882; ENSG00000116670

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10459

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10459

UCSC genome browser

More...UCSCi		uc001asp.4 human

<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

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF072933 mRNA Translation: AAD41647.1
AF080398 mRNA Translation: AAF20267.1
AF139365 mRNA Translation: AAD30290.1
AF157482 mRNA Translation: AAF34357.1
AK027327 mRNA Translation: BAG51305.1
AK094316 mRNA Translation: BAG52858.1
DQ017900 Genomic DNA Translation: AAY26393.1
AL031731 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71697.1
BC015244 mRNA Translation: AAH15244.1
CCDSiCCDS134.1
RefSeqiNP_001120797.1, NM_001127325.1
NP_006332.3, NM_006341.3
XP_011538809.1, XM_011540507.1

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
3ABDX-ray1.90A/B1-211[»]
3ABEX-ray2.60C1-211[»]
3VU7X-ray2.80C1-211[»]
4EXTX-ray1.90C7-209[»]
4GK0X-ray2.70A/B1-211[»]
4GK5X-ray3.21A/B1-211[»]
5XPTX-ray2.10A1-211[»]
5XPUX-ray2.30A1-211[»]
6BC8X-ray1.68A1-211[»]
6BCDX-ray1.43A1-211[»]
6BI7X-ray2.80A/C/E/G1-211[»]
SMRiQ9UI95
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115722, 70 interactors
ComplexPortaliCPX-3481 Shieldin complex
CORUMiQ9UI95
IntActiQ9UI95, 145 interactors
MINTiQ9UI95
STRINGi9606.ENSP00000235310

PTM databases

iPTMnetiQ9UI95
PhosphoSitePlusiQ9UI95

Polymorphism and mutation databases

BioMutaiMAD2L2

Proteomic databases

EPDiQ9UI95
jPOSTiQ9UI95
MaxQBiQ9UI95
PaxDbiQ9UI95
PeptideAtlasiQ9UI95
PRIDEiQ9UI95
ProteomicsDBi84481
TopDownProteomicsiQ9UI95

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		10459
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000235310; ENSP00000235310; ENSG00000116670
ENST00000376667; ENSP00000365855; ENSG00000116670
ENST00000376692; ENSP00000365882; ENSG00000116670
GeneIDi10459
KEGGihsa:10459
UCSCiuc001asp.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10459
DisGeNETi10459

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAD2L2
GeneReviewsiMAD2L2
HGNCiHGNC:6764 MAD2L2
HPAiCAB008110
HPA024176
MalaCardsiMAD2L2
MIMi604094 gene
617243 phenotype
neXtProtiNX_Q9UI95
OpenTargetsiENSG00000116670
Orphaneti84 Fanconi anemia
PharmGKBiPA398

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3186 Eukaryota
ENOG4111I7Q LUCA
GeneTreeiENSGT00940000153395
HOGENOMiHOG000231083
InParanoidiQ9UI95
KOiK13728
OrthoDBi1630737at2759
PhylomeDBiQ9UI95
TreeFamiTF101085

Enzyme and pathway databases

ReactomeiR-HSA-110312 Translesion synthesis by REV1
R-HSA-5655862 Translesion synthesis by POLK
R-HSA-5656121 Translesion synthesis by POLI
SIGNORiQ9UI95

Miscellaneous databases

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

More...ChiTaRSi		MAD2L2 human
EvolutionaryTraceiQ9UI95

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAD2L2

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

More...GenomeRNAii		10459

Protein Ontology

More...PROi		PR:Q9UI95

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116670 Expressed in 182 organ(s), highest expression level in testis
ExpressionAtlasiQ9UI95 baseline and differential
GenevisibleiQ9UI95 HS

Family and domain databases

Gene3Di3.30.900.10, 1 hit
InterProiView protein in InterPro
IPR003511 HORMA_dom
IPR036570 HORMA_dom_sf
PfamiView protein in Pfam
PF02301 HORMA, 1 hit
SUPFAMiSSF56019 SSF56019, 1 hit
PROSITEiView protein in PROSITE
PS50815 HORMA, 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 nameiMD2L2_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: Q9UI95
Secondary accession number(s): B3KNE3
, Q5TGW7, Q9UNA7, Q9Y6I6
<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: January 11, 2001
Last sequence update: January 11, 2001
Last modified: July 3, 2019
This is version 164 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. 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 1
    Human chromosome 1: 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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