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Entry version 194 (16 Oct 2019)
Sequence version 3 (05 Jul 2005)
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Protein

Mediator of DNA damage checkpoint protein 1

Gene

MDC1

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

Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1.10 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

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 processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-69473 G2/M DNA damage checkpoint

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q14676

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q14676

<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:
Mediator of DNA damage checkpoint protein 1
Alternative name(s):
Nuclear factor with BRCT domains 1
<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:MDC1
Synonyms:KIAA0170, NFBD1
<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 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:21163 MDC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607593 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14676

<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, 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

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>Mutagenesisi58R → A: Abrogates binding to the MRE11 complex and to CHEK2. 2 Publications1
Mutagenesisi72S → A: Abrogates binding to CHEK2. 1 Publication1
Mutagenesisi96N → A: Abrogates binding to CHEK2; when associated with A-97 and A-98. 1 Publication1
Mutagenesisi97G → A: Abrogates binding to CHEK2; when associated with A-96 and A-98. 1 Publication1
Mutagenesisi98T → A: Abrogates binding to CHEK2; when associated with A-96 and A-97. 1 Publication1
Mutagenesisi1840K → R: Suppresses RNF4-mediated ubiquitination, accumulates at sites of DNA damage, defective homologous recombination. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
9656

Open Targets

More...
OpenTargetsi
ENSG00000137337

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134942837

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14676

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MDC1

<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_00000963161 – 2089Mediator of DNA damage checkpoint protein 1Add BLAST2089

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 residuei4Phosphothreonine; by ATM1 Publication1
Modified residuei108PhosphoserineCombined sources1
Modified residuei146PhosphothreonineCombined sources1
Modified residuei168PhosphoserineCombined sources1
Modified residuei176PhosphoserineBy similarity1
Modified residuei299PhosphoserineCombined sources1
Modified residuei301PhosphothreonineCombined sources1
Modified residuei329PhosphoserineCombined sources1
Modified residuei331PhosphothreonineCombined sources1
Modified residuei372PhosphoserineCombined sources1
Modified residuei376PhosphoserineCombined sources1
Modified residuei378PhosphothreonineCombined sources1
Modified residuei394PhosphoserineCombined sources1
Modified residuei397PhosphoserineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei404PhosphothreonineCombined sources1
Modified residuei411PhosphoserineCombined sources1
Modified residuei449PhosphothreonineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei455PhosphothreonineCombined sources1
Modified residuei485PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei498PhosphoserineCombined sources1
Modified residuei504PhosphoserineBy similarity1
Modified residuei505PhosphoserineBy similarity1
Modified residuei513PhosphoserineCombined sources1
Modified residuei523PhosphothreonineCombined sources1
Modified residuei590PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki616Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki616Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei780PhosphoserineCombined sources1
Modified residuei793PhosphoserineCombined sources1
Modified residuei812N6-acetyllysineCombined sources1
Modified residuei955PhosphoserineCombined sources1
Modified residuei998PhosphoserineCombined sources1
Modified residuei1033PhosphoserineCombined sources1
Modified residuei1068PhosphoserineCombined sources1
Modified residuei1086PhosphoserineCombined sources1
Modified residuei1157PhosphothreonineCombined sources1
Modified residuei1198PhosphothreonineCombined sources1
Modified residuei1235PhosphoserineBy similarity1
Modified residuei1239PhosphothreonineCombined sources1
Modified residuei1280PhosphothreonineCombined sources1
Modified residuei1302PhosphothreonineCombined sources1
Modified residuei1399PhosphoserineCombined sources1
Modified residuei1400PhosphoserineCombined sources1
Modified residuei1402N6-acetyllysineCombined sources1
Modified residuei1403PhosphothreonineCombined sources1
Cross-linki1413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki1413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1425PhosphothreonineCombined sources1
Modified residuei1466PhosphothreonineCombined sources1
Modified residuei1548PhosphothreonineCombined sources1
Modified residuei1564PhosphoserineCombined sources1
Modified residuei1567PhosphothreonineCombined sources1
Modified residuei1589PhosphothreonineCombined sources1
Modified residuei1604PhosphoserineCombined sources1
Modified residuei1608PhosphothreonineCombined sources1
Modified residuei1630PhosphothreonineCombined sources1
Modified residuei1664PhosphothreonineCombined sources1
Modified residuei1671PhosphothreonineCombined sources1
Modified residuei1681PhosphoserineCombined sources1
Modified residuei1697PhosphothreonineCombined sources1
Modified residuei1702PhosphoserineCombined sources1
Modified residuei1711PhosphoserineCombined sources1
Cross-linki1740Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1775PhosphoserineCombined sources1
Cross-linki1790Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1800PhosphothreonineCombined sources1
Modified residuei1820PhosphoserineCombined sources1
Cross-linki1840Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate1 Publication
Cross-linki1840Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1858PhosphothreonineCombined sources1
Modified residuei1943Omega-N-methylarginineCombined 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 upon exposure to ionizing radiation (IR), ultraviolet radiation (UV), and hydroxyurea (HU). Phosphorylation in response to IR requires ATM, NBN, and possibly CHEK2. Also phosphorylated during the G2/M phase of the cell cycle and during activation of the mitotic spindle checkpoint. Phosphorylation at Thr-4 by ATM stabilizes and enhances homodimerization via the FHA domain.4 Publications
Sumoylation at Lys-1840 by PIAS4 following DNA damage promotes ubiquitin-mediated degradation.1 Publication
Ubiquitinated by RNF4, leading to proteasomal degradation; undergoes 'Lys-48'-linked polyubiquitination.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-3234
CPTAC-3235
CPTAC-931

Encyclopedia of Proteome Dynamics

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EPDi
Q14676

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14676

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14676

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14676

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

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PaxDbi
Q14676

PeptideAtlas

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PeptideAtlasi
Q14676

PRoteomics IDEntifications database

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PRIDEi
Q14676

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60105 [Q14676-1]
60106 [Q14676-2]
60107 [Q14676-3]
60108 [Q14676-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14676

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

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PhosphoSitePlusi
Q14676

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14676

<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

Highly expressed in testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000137337 Expressed in 212 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14676 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14676 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA006915

<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

Homodimer.

Interacts with several proteins involved in the DNA damage response, although not all these interactions may be direct.

Interacts with H2AFX, which requires phosphorylation of H2AFX on 'Ser-139'.

Interacts with the MRN complex, composed of MRE11, RAD50, and NBN.

Interacts with CHEK2, which requires ATM-mediated phosphorylation of 'Thr-68' within the FHA domain of CHEK2.

Interacts constitutively with the BRCA1-BARD1 complex, SMC1A and TP53BP1.

Interacts with ATM and FANCD2, and these interactions are reduced upon DNA damage.

Also interacts with the PRKDC complex, composed of XRCC6/KU70, XRCC5/KU80 and PRKDC/XRCC7. This interaction may be required for PRKDC autophosphorylation, which is essential for DNA double strand break (DSB) repair. When phosphorylated by ATM, interacts with RNF8 (via FHA domain).

Interacts with CEP164. When phosphorylated, interacts with APTX (via FHA-like domain).

14 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115014, 322 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q14676

Database of interacting proteins

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DIPi
DIP-33603N

Protein interaction database and analysis system

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IntActi
Q14676, 161 interactors

Molecular INTeraction database

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MINTi
Q14676

STRING: functional protein association networks

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STRINGi
9606.ENSP00000365588

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q14676

<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

12089
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
Q14676

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q14676

<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>Domaini54 – 105FHAPROSITE-ProRule annotationAdd BLAST52
Domaini1892 – 1970BRCT 1PROSITE-ProRule annotationAdd BLAST79
Domaini1991 – 2082BRCT 2PROSITE-ProRule annotationAdd BLAST92

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>Regioni1 – 150Interaction with CHEK2Add BLAST150
Regioni2 – 220Interaction with the MRN complexAdd BLAST219
Regioni145 – 568Required for nuclear localization (NLS1)Add BLAST424
Regioni1148 – 1610Interaction with the PRKDC complexAdd BLAST463
Regioni1698 – 2089Required for nuclear localization (NLS2)Add BLAST392

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1034 – 1469Pro-richAdd BLAST436

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Tandemly repeated BRCT domains are characteristic of proteins involved in DNA damage signaling. In MDC1, these repeats are required for localization to chromatin which flanks sites of DNA damage marked by 'Ser-139' phosphorylation of H2AFX.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2043 Eukaryota
ENOG4111RPS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161757

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14676

KEGG Orthology (KO)

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KOi
K20780

Identification of Orthologs from Complete Genome Data

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OMAi
EPTQAFL

Database of Orthologous Groups

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OrthoDBi
670424at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14676

TreeFam database of animal gene trees

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TreeFami
TF329580

Family and domain databases

Conserved Domains Database

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CDDi
cd00060 FHA, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.10190, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR000253 FHA_dom
IPR008984 SMAD_FHA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00498 FHA, 1 hit
PF16770 RTT107_BRCT_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00240 FHA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49879 SSF49879, 1 hit
SSF52113 SSF52113, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50172 BRCT, 1 hit
PS50006 FHA_DOMAIN, 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 (4+)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 4 <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 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14676-1) [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
MEDTQAIDWD VEEEEETEQS SESLRCNVEP VGRLHIFSGA HGPEKDFPLH
60 70 80 90 100
LGKNVVGRMP DCSVALPFPS ISKQHAEIEI LAWDKAPILR DCGSLNGTQI
110 120 130 140 150
LRPPKVLSPG VSHRLRDQEL ILFADLLCQY HRLDVSLPFV SRGPLTVEET
160 170 180 190 200
PRVQGETQPQ RLLLAEDSEE EVDFLSERRM VKKSRTTSSS VIVPESDEEG
210 220 230 240 250
HSPVLGGLGP PFAFNLNSDT DVEEGQQPAT EEASSAARRG ATVEAKQSEA
260 270 280 290 300
EVVTEIQLEK DQPLVKERDN DTKVKRGAGN GVVPAGVILE RSQPPGEDSD
310 320 330 340 350
TDVDDDSRPP GRPAEVHLER AQPFGFIDSD TDAEEERIPA TPVVIPMKKR
360 370 380 390 400
KIFHGVGTRG PGAPGLAHLQ ESQAGSDTDV EEGKAPQAVP LEKSQASMVI
410 420 430 440 450
NSDTDDEEEV SAALTLAHLK ESQPAIWNRD AEEDMPQRVV LLQRSQTTTE
460 470 480 490 500
RDSDTDVEEE ELPVENREAV LKDHTKIRAL VRAHSEKDQP PFGDSDDSVE
510 520 530 540 550
ADKSSPGIHL ERSQASTTVD INTQVEKEVP PGSAIIHIKK HQVSVEGTNQ
560 570 580 590 600
TDVKAVGGPA KLLVVSLEEA WPLHGDCETD AEEGTSLTAS VVADVRKSQL
610 620 630 640 650
PAEGDAGAEW AAAVLKQERA HEVGAQGGPP VAQVEQDLPI SRENLTDLVV
660 670 680 690 700
DTDTLGESTQ PQREGAQVPT GREREQHVGG TKDSEDNYGD SEDLDLQATQ
710 720 730 740 750
CFLENQGLEA VQSMEDEPTQ AFMLTPPQEL GPSHCSFQTT GTLDEPWEVL
760 770 780 790 800
ATQPFCLRES EDSETQPFDT HLEAYGPCLS PPRAIPGDQH PESPVHTEPM
810 820 830 840 850
GIQGRGRQTV DKVMGIPKET AERVGPERGP LERETEKLLP ERQTDVTGEE
860 870 880 890 900
ELTKGKQDRE QKQLLARDTQ RQESDKNGES ASPERDRESL KVEIETSEEI
910 920 930 940 950
QEKQVQKQTL PSKAFEREVE RPVANRECDP AELEEKVPKV ILERDTQRGE
960 970 980 990 1000
PEGGSQDQKG QASSPTPEPG VGAGDLPGPT SAPVPSGSQS GGRGSPVSPR
1010 1020 1030 1040 1050
RHQKGLLNCK MPPAEKASRI RAAEKVSRGD QESPDACLPP TVPEAPAPPQ
1060 1070 1080 1090 1100
KPLNSQSQKH LAPPPLLSPL LPSIKPTVRK TRQDGSQEAP EAPLSSELEP
1110 1120 1130 1140 1150
FHPKPKIRTR KSSRMTPFPA TSAAPEPHPS TSTAQPVTPK PTSQATRSRT
1160 1170 1180 1190 1200
NRSSVKTPEP VVPTAPELQP STSTDQPVTS EPTSQVTRGR KSRSSVKTPE
1210 1220 1230 1240 1250
TVVPTALELQ PSTSTDRPVT SEPTSQATRG RKNRSSVKTP EPVVPTAPEL
1260 1270 1280 1290 1300
QPSTSTDQPV TSEPTYQATR GRKNRSSVKT PEPVVPTAPE LRPSTSTDRP
1310 1320 1330 1340 1350
VTPKPTSRTT RSRTNMSSVK TPETVVPTAP ELQISTSTDQ PVTPKPTSRT
1360 1370 1380 1390 1400
TRSRTNMSSV KNPESTVPIA PELPPSTSTE QPVTPEPTSR ATRGRKNRSS
1410 1420 1430 1440 1450
GKTPETLVPT APKLEPSTST DQPVTPEPTS QATRGRTNRS SVKTPETVVP
1460 1470 1480 1490 1500
TAPELQPSTS TDQPVTPEPT SQATRGRTDR SSVKTPETVV PTAPELQASA
1510 1520 1530 1540 1550
STDQPVTSEP TSRTTRGRKN RSSVKTPETV VPAAPELQPS TSTDQPVTPE
1560 1570 1580 1590 1600
PTSRATRGRT NRSSVKTPES IVPIAPELQP STSRNQLVTP EPTSRATRCR
1610 1620 1630 1640 1650
TNRSSVKTPE PVVPTAPEPH PTTSTDQPVT PKLTSRATRR KTNRSSVKTP
1660 1670 1680 1690 1700
KPVEPAASDL EPFTPTDQSV TPEAIAQGGQ SKTLRSSTVR AMPVPTTPEF
1710 1720 1730 1740 1750
QSPVTTDQPI SPEPITQPSC IKRQRAAGNP GSLAAPIDHK PCSAPLEPKS
1760 1770 1780 1790 1800
QASRNQRWGA VRAAESLTAI PEPASPQLLE TPIHASQIQK VEPAGRSRFT
1810 1820 1830 1840 1850
PELQPKASQS RKRSLATMDS PPHQKQPQRG EVSQKTVIIK EEEEDTAEKP
1860 1870 1880 1890 1900
GKEEDVVTPK PGKRKRDQAE EEPNRIPSRS LRRTKLNQES TAPKVLFTGV
1910 1920 1930 1940 1950
VDARGERAVL ALGGSLAGSA AEASHLVTDR IRRTVKFLCA LGRGIPILSL
1960 1970 1980 1990 2000
DWLHQSRKAG FFLPPDEYVV TDPEQEKNFG FSLQDALSRA RERRLLEGYE
2010 2020 2030 2040 2050
IYVTPGVQPP PPQMGEIISC CGGTYLPSMP RSYKPQRVVI TCPQDFPHCS
2060 2070 2080
IPLRVGLPLL SPEFLLTGVL KQEAKPEAFV LSPLEMSST
Length:2,089
Mass (Da):226,666
Last modified:July 5, 2005 - v3
<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:iA8B880A25617EC96
GO
Isoform 2 (identifier: Q14676-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     741-1004: Missing.

Show »
Length:1,825
Mass (Da):197,598
Checksum:iA8837EC5FB7EC360
GO
Isoform 3 (identifier: Q14676-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1124-1410: Missing.

Note: No experimental confirmation available.
Show »
Length:1,802
Mass (Da):195,986
Checksum:iFF7FB09BDF3E6178
GO
Isoform 4 (identifier: Q14676-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     741-1004: Missing.
     1029-1787: Missing.

Note: No experimental confirmation available.
Show »
Length:1,066
Mass (Da):116,634
Checksum:iF3816B14D9E11884
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2AB05A2AB05_HUMAN
Mediator of DNA damage checkpoint p...
MDC1
162Annotation 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>
A2AB06A2AB06_HUMAN
Mediator of DNA damage checkpoint p...
MDC1
113Annotation 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>
A2AB07A2AB07_HUMAN
Mediator of DNA damage checkpoint p...
MDC1
126Annotation 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>
A0A087X0R2A0A087X0R2_HUMAN
Mediator of DNA damage checkpoint p...
MDC1
142Annotation 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>
H0Y6Z8H0Y6Z8_HUMAN
Mediator of DNA damage checkpoint p...
MDC1
306Annotation 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 BAA11487 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH18685 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.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 conflicti638L → P in CAH18685 (PubMed:17974005).Curated1
Sequence conflicti645 – 1326Missing in CAH18685 (PubMed:17974005).CuratedAdd BLAST682
Sequence conflicti1005G → GS in BAB63322 (Ref. 3) Curated1
Sequence conflicti1041T → A in BAA11487 (PubMed:8724849).Curated1
Sequence conflicti1041T → A in AAI52557 (PubMed:15489334).Curated1
Sequence conflicti1266Y → S in BAE78617 (PubMed:16702430).Curated1
Sequence conflicti1283P → T in BAE78617 (PubMed:16702430).Curated1
Sequence conflicti1533A → T in BAC54931 (PubMed:16702430).Curated1
Sequence conflicti1533A → T in BAF31266 (PubMed:16702430).Curated1
Sequence conflicti1536E → A in BX248307 (PubMed:14574404).Curated1
Sequence conflicti1664T → S in BAE78617 (PubMed:16702430).Curated1
Sequence conflicti1668Q → R in CAH18685 (PubMed:17974005).Curated1
Sequence conflicti1734A → T in BAE78617 (PubMed:16702430).Curated1
Sequence conflicti1843E → K (PubMed:17974005).Curated1
Sequence conflicti2048H → R (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_051160179R → C. Corresponds to variant dbSNP:rs28986464Ensembl.1
Natural variantiVAR_022843251E → K1 PublicationCorresponds to variant dbSNP:rs2517560Ensembl.1
Natural variantiVAR_022844268R → K2 PublicationsCorresponds to variant dbSNP:rs9262152Ensembl.1
Natural variantiVAR_022845371E → K1 PublicationCorresponds to variant dbSNP:rs2075015Ensembl.1
Natural variantiVAR_051161386P → L1 PublicationCorresponds to variant dbSNP:rs28986465Ensembl.1
Natural variantiVAR_043922536I → M2 PublicationsCorresponds to variant dbSNP:rs58344693Ensembl.1
Natural variantiVAR_022846586S → A1 PublicationCorresponds to variant dbSNP:rs2844707Ensembl.1
Natural variantiVAR_051162917R → S. Corresponds to variant dbSNP:rs28986467Ensembl.1
Natural variantiVAR_0511631100P → A. Corresponds to variant dbSNP:rs28994869Ensembl.1
Natural variantiVAR_0511641112S → F. Corresponds to variant dbSNP:rs28987085Ensembl.1
Natural variantiVAR_0511651180S → P1 PublicationCorresponds to variant dbSNP:rs9461623Ensembl.1
Natural variantiVAR_0228471509E → D2 PublicationsCorresponds to variant dbSNP:rs3132589Ensembl.1
Natural variantiVAR_0228481540S → PCombined sources3 PublicationsCorresponds to variant dbSNP:rs3130645Ensembl.1
Natural variantiVAR_0439231545Q → R6 PublicationsCorresponds to variant dbSNP:rs17292678Ensembl.1
Natural variantiVAR_0511661745P → R. Corresponds to variant dbSNP:rs28994871Ensembl.1
Natural variantiVAR_0511671791V → E. Corresponds to variant dbSNP:rs28994873Ensembl.1
Natural variantiVAR_0511681855D → E. Corresponds to variant dbSNP:rs28994874Ensembl.1
Natural variantiVAR_0511691883R → Q. Corresponds to variant dbSNP:rs28994875Ensembl.1
Natural variantiVAR_0511701904R → Q. Corresponds to variant dbSNP:rs28994876Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_014593741 – 1004Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST264
Alternative sequenceiVSP_0341031029 – 1787Missing in isoform 4. 1 PublicationAdd BLAST759
Alternative sequenceiVSP_0341041124 – 1410Missing in isoform 3. 1 PublicationAdd BLAST287

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
D79992 mRNA Translation: BAA11487.2 Different initiation.
CR749828 mRNA Translation: CAH18685.1 Different termination.
BA000025 Genomic DNA Translation: BAB63322.1
AB088099 Genomic DNA Translation: BAC54931.1
AB202097 Genomic DNA Translation: BAE78617.1
AB103605 Genomic DNA Translation: BAF31266.1
AL662797 Genomic DNA No translation available.
AL662848 Genomic DNA No translation available.
AL845353 Genomic DNA No translation available.
BX248307 Genomic DNA No translation available.
BX927283 Genomic DNA No translation available.
CR759873 Genomic DNA No translation available.
CR788240 Genomic DNA No translation available.
CR936878 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03321.1
BC110645 mRNA Translation: AAI10646.1
BC152556 mRNA Translation: AAI52557.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34384.1 [Q14676-1]

NCBI Reference Sequences

More...
RefSeqi
NP_055456.2, NM_014641.2 [Q14676-1]
XP_005249551.1, XM_005249494.4 [Q14676-1]
XP_011513303.1, XM_011515001.2 [Q14676-1]
XP_011513305.1, XM_011515003.2 [Q14676-1]
XP_016867008.1, XM_017011519.1 [Q14676-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000376406; ENSP00000365588; ENSG00000137337 [Q14676-1]
ENST00000383566; ENSP00000373060; ENSG00000206481
ENST00000420019; ENSP00000396484; ENSG00000224587 [Q14676-1]
ENST00000420320; ENSP00000416511; ENSG00000225589 [Q14676-1]
ENST00000427406; ENSP00000387429; ENSG00000234012 [Q14676-1]
ENST00000435664; ENSP00000404318; ENSG00000231135
ENST00000440369; ENSP00000415212; ENSG00000228575 [Q14676-1]
ENST00000449153; ENSP00000409167; ENSG00000237095 [Q14676-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9656

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9656

UCSC genome browser

More...
UCSCi
uc003nrg.5 human [Q14676-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D79992 mRNA Translation: BAA11487.2 Different initiation.
CR749828 mRNA Translation: CAH18685.1 Different termination.
BA000025 Genomic DNA Translation: BAB63322.1
AB088099 Genomic DNA Translation: BAC54931.1
AB202097 Genomic DNA Translation: BAE78617.1
AB103605 Genomic DNA Translation: BAF31266.1
AL662797 Genomic DNA No translation available.
AL662848 Genomic DNA No translation available.
AL845353 Genomic DNA No translation available.
BX248307 Genomic DNA No translation available.
BX927283 Genomic DNA No translation available.
CR759873 Genomic DNA No translation available.
CR788240 Genomic DNA No translation available.
CR936878 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03321.1
BC110645 mRNA Translation: AAI10646.1
BC152556 mRNA Translation: AAI52557.1
CCDSiCCDS34384.1 [Q14676-1]
RefSeqiNP_055456.2, NM_014641.2 [Q14676-1]
XP_005249551.1, XM_005249494.4 [Q14676-1]
XP_011513303.1, XM_011515001.2 [Q14676-1]
XP_011513305.1, XM_011515003.2 [Q14676-1]
XP_016867008.1, XM_017011519.1 [Q14676-1]

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
2ADOX-ray1.45A/B1891-2086[»]
2AZMX-ray2.41A/B1883-2089[»]
2ETXX-ray1.33A/B1884-2089[»]
3K05X-ray1.33A/B1891-2089[»]
3UEOX-ray2.60E/F325-336[»]
3UMZX-ray1.65A/B27-138[»]
3UN0X-ray2.30A/B26-138[»]
3UNMX-ray1.80A/B27-138[»]
3UNNX-ray1.70A27-138[»]
B1-8[»]
3UOTX-ray1.80A/B19-138[»]
D/E1-10[»]
SMRiQ14676
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115014, 322 interactors
CORUMiQ14676
DIPiDIP-33603N
IntActiQ14676, 161 interactors
MINTiQ14676
STRINGi9606.ENSP00000365588

Chemistry databases

BindingDBiQ14676

PTM databases

iPTMnetiQ14676
PhosphoSitePlusiQ14676
SwissPalmiQ14676

Polymorphism and mutation databases

BioMutaiMDC1

Proteomic databases

CPTACiCPTAC-3234
CPTAC-3235
CPTAC-931
EPDiQ14676
jPOSTiQ14676
MassIVEiQ14676
MaxQBiQ14676
PaxDbiQ14676
PeptideAtlasiQ14676
PRIDEiQ14676
ProteomicsDBi60105 [Q14676-1]
60106 [Q14676-2]
60107 [Q14676-3]
60108 [Q14676-4]

Genome annotation databases

EnsembliENST00000376406; ENSP00000365588; ENSG00000137337 [Q14676-1]
ENST00000383566; ENSP00000373060; ENSG00000206481
ENST00000420019; ENSP00000396484; ENSG00000224587 [Q14676-1]
ENST00000420320; ENSP00000416511; ENSG00000225589 [Q14676-1]
ENST00000427406; ENSP00000387429; ENSG00000234012 [Q14676-1]
ENST00000435664; ENSP00000404318; ENSG00000231135
ENST00000440369; ENSP00000415212; ENSG00000228575 [Q14676-1]
ENST00000449153; ENSP00000409167; ENSG00000237095 [Q14676-1]
GeneIDi9656
KEGGihsa:9656
UCSCiuc003nrg.5 human [Q14676-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9656
DisGeNETi9656

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MDC1
HGNCiHGNC:21163 MDC1
HPAiHPA006915
MIMi607593 gene
neXtProtiNX_Q14676
OpenTargetsiENSG00000137337
PharmGKBiPA134942837

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2043 Eukaryota
ENOG4111RPS LUCA
GeneTreeiENSGT00940000161757
InParanoidiQ14676
KOiK20780
OMAiEPTQAFL
OrthoDBi670424at2759
PhylomeDBiQ14676
TreeFamiTF329580

Enzyme and pathway databases

ReactomeiR-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-69473 G2/M DNA damage checkpoint
SignaLinkiQ14676
SIGNORiQ14676

Miscellaneous databases

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

More...
ChiTaRSi
MDC1 human
EvolutionaryTraceiQ14676

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MDC1

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

More...
GenomeRNAii
9656
PharosiQ14676

Protein Ontology

More...
PROi
PR:Q14676

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137337 Expressed in 212 organ(s), highest expression level in testis
ExpressionAtlasiQ14676 baseline and differential
GenevisibleiQ14676 HS

Family and domain databases

CDDicd00060 FHA, 1 hit
Gene3Di3.40.50.10190, 2 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR000253 FHA_dom
IPR008984 SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF00498 FHA, 1 hit
PF16770 RTT107_BRCT_5, 1 hit
SMARTiView protein in SMART
SM00240 FHA, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF52113 SSF52113, 1 hit
PROSITEiView protein in PROSITE
PS50172 BRCT, 1 hit
PS50006 FHA_DOMAIN, 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 nameiMDC1_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: Q14676
Secondary accession number(s): A2AB04
, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
<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: July 5, 2005
Last sequence update: July 5, 2005
Last modified: October 16, 2019
This is version 194 of the entry and version 3 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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