UniProtKB - Q9UI95 (MD2L2_HUMAN)
Mitotic spindle assembly checkpoint protein MAD2B
MAD2L2
Functioni
GO - Molecular functioni
- JUN kinase binding Source: UniProtKB
- RNA polymerase II activating transcription factor binding Source: BHF-UCL
GO - Biological processi
- actin filament organization Source: BHF-UCL
- cell division Source: UniProtKB-KW
- DNA damage response, signal transduction resulting in transcription Source: UniProtKB
- double-strand break repair Source: UniProtKB
- error-prone translesion synthesis Source: Reactome
- mitotic spindle assembly checkpoint Source: ProtInc
- negative regulation of canonical Wnt signaling pathway Source: BHF-UCL
- negative regulation of cell-cell adhesion mediated by cadherin Source: BHF-UCL
- negative regulation of DNA-binding transcription factor activity Source: BHF-UCL
- negative regulation of double-strand break repair via homologous recombination Source: UniProtKB
- negative regulation of epithelial to mesenchymal transition Source: BHF-UCL
- negative regulation of protein catabolic process Source: UniProtKB
- negative regulation of transcription by competitive promoter binding Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
- negative regulation of ubiquitin protein ligase activity Source: UniProtKB
- positive regulation of double-strand break repair via nonhomologous end joining Source: UniProtKB
- positive regulation of isotype switching Source: UniProtKB
- positive regulation of peptidyl-serine phosphorylation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of cell growth Source: UniProtKB
Keywordsi
Biological process | Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9UI95 |
Reactomei | R-HSA-110312, Translesion synthesis by REV1 R-HSA-5655862, Translesion synthesis by POLK R-HSA-5656121, Translesion synthesis by POLI |
SIGNORi | Q9UI95 |
Names & Taxonomyi
Protein namesi | Recommended name: Mitotic spindle assembly checkpoint protein MAD2BAlternative name(s): Mitotic arrest deficient 2-like protein 2 Short name: MAD2-like protein 2 REV7 homolog Short name: hREV7 |
Gene namesi | Name:MAD2L2 Synonyms:MAD2B, REV7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000116670.14 |
HGNCi | HGNC:6764, MAD2L2 |
MIMi | 604094, gene |
neXtProti | NX_Q9UI95 |
Subcellular locationi
Nucleus
- Nucleus 4 Publications
Cytoskeleton
- spindle 2 Publications
Other locations
- Cytoplasm 2 Publications
- Chromosome 1 Publication
Note: Recruited to sites of chromosomal double-stranded breaks during G1 and S phase of the cell cycle.1 Publication
Cytoskeleton
- spindle Source: UniProtKB
Cytosol
- cytosol Source: HPA
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- chromosome Source: UniProtKB
- site of double-strand break Source: UniProtKB
- zeta DNA polymerase complex Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Involvement in diseasei
Fanconi anemia, complementation group V (FANCV)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077981 | 85 | V → E in FANCV; drastically reduced protein abundance. 1 PublicationCorresponds to variant dbSNP:rs1057517674EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 63 | Y → A: Alters interaction with REV3L. Loss of interaction with REV3L; when associated with A-171. 1 Publication | 1 | |
Mutagenesisi | 124 | R → A: Induces structural changes that increase affinity for REV3L and REV1. No effect on interaction with REV1; when associated with A-171. 1 Publication | 1 | |
Mutagenesisi | 171 | W → 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 Publication | 1 | |
Mutagenesisi | 186 | L → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication | 1 | |
Mutagenesisi | 200 | Q → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication | 1 | |
Mutagenesisi | 202 | Y → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Fanconi anemiaOrganism-specific databases
DisGeNETi | 10459 |
GeneReviewsi | MAD2L2 |
MalaCardsi | MAD2L2 |
MIMi | 617243, phenotype |
OpenTargetsi | ENSG00000116670 |
Orphaneti | 84, Fanconi anemia |
PharmGKBi | PA398 |
Miscellaneous databases
Pharosi | Q9UI95, Tbio |
Polymorphism and mutation databases
BioMutai | MAD2L2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000126119 | 1 – 211 | Mitotic spindle assembly checkpoint protein MAD2BAdd BLAST | 211 |
Proteomic databases
EPDi | Q9UI95 |
jPOSTi | Q9UI95 |
MassIVEi | Q9UI95 |
MaxQBi | Q9UI95 |
PaxDbi | Q9UI95 |
PeptideAtlasi | Q9UI95 |
PRIDEi | Q9UI95 |
ProteomicsDBi | 84481 |
TopDownProteomicsi | Q9UI95 |
PTM databases
iPTMneti | Q9UI95 |
PhosphoSitePlusi | Q9UI95 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000116670, Expressed in subventricular zone (inner) (primate) and 196 other tissues |
ExpressionAtlasi | Q9UI95, baseline and differential |
Genevisiblei | Q9UI95, HS |
Organism-specific databases
HPAi | ENSG00000116670, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Hide detailsQ9UI95
GO - Molecular functioni
- JUN kinase binding Source: UniProtKB
- RNA polymerase II activating transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 115722, 203 interactors |
ComplexPortali | CPX-3481, Shieldin complex |
CORUMi | Q9UI95 |
IntActi | Q9UI95, 161 interactors |
MINTi | Q9UI95 |
STRINGi | 9606.ENSP00000235310 |
Miscellaneous databases
RNActi | Q9UI95, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | Q9UI95 |
SMRi | Q9UI95 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UI95 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 13 – 203 | HORMAPROSITE-ProRule annotationAdd BLAST | 191 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 21 – 155 | Mediates interaction with REV1 and REV3L and homodimerizationAdd BLAST | 135 | |
Regioni | 150 – 211 | Mediates interaction with ipaBAdd BLAST | 62 |
Phylogenomic databases
eggNOGi | KOG3186, Eukaryota |
GeneTreei | ENSGT00940000153395 |
InParanoidi | Q9UI95 |
OrthoDBi | 1630737at2759 |
PhylomeDBi | Q9UI95 |
TreeFami | TF101085 |
Family and domain databases
Gene3Di | 3.30.900.10, 1 hit |
IDEALi | IID00285 |
InterProi | View protein in InterPro IPR003511, HORMA_dom IPR036570, HORMA_dom_sf |
Pfami | View protein in Pfam PF02301, HORMA, 1 hit |
SUPFAMi | SSF56019, SSF56019, 1 hit |
PROSITEi | View protein in PROSITE PS50815, HORMA, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1AK43 | B1AK43_HUMAN | Mitotic spindle assembly checkpoint... | MAD2L2 | 197 | Annotation score: | ||
B1AK44 | B1AK44_HUMAN | Mitotic spindle assembly checkpoint... | MAD2L2 | 224 | Annotation score: | ||
B1AK45 | B1AK45_HUMAN | Mitotic spindle assembly checkpoint... | MAD2L2 | 167 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 17 | D → A in AAD30290 (PubMed:10366450).Curated | 1 | |
Sequence conflicti | 96 | E → D in AAF20267 (Ref. 2) Curated | 1 | |
Sequence conflicti | 199 | M → V in AAF20267 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077981 | 85 | V → E in FANCV; drastically reduced protein abundance. 1 PublicationCorresponds to variant dbSNP:rs1057517674EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS134.1 |
RefSeqi | NP_001120797.1, NM_001127325.1 NP_006332.3, NM_006341.3 XP_011538809.1, XM_011540507.1 |
Genome annotation databases
Ensembli | ENST00000235310; ENSP00000235310; ENSG00000116670 ENST00000376667; ENSP00000365855; ENSG00000116670 ENST00000376692; ENSP00000365882; ENSG00000116670 |
GeneIDi | 10459 |
KEGGi | hsa:10459 |
UCSCi | uc001asp.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS134.1 |
RefSeqi | NP_001120797.1, NM_001127325.1 NP_006332.3, NM_006341.3 XP_011538809.1, XM_011540507.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3ABD | X-ray | 1.90 | A/B | 1-211 | [»] | |
3ABE | X-ray | 2.60 | C | 1-211 | [»] | |
3VU7 | X-ray | 2.80 | C | 1-211 | [»] | |
4EXT | X-ray | 1.90 | C | 7-209 | [»] | |
4GK0 | X-ray | 2.70 | A/B | 1-211 | [»] | |
4GK5 | X-ray | 3.21 | A/B | 1-211 | [»] | |
5XPT | X-ray | 2.10 | A | 1-211 | [»] | |
5XPU | X-ray | 2.30 | A | 1-211 | [»] | |
6BC8 | X-ray | 1.68 | A | 1-211 | [»] | |
6BCD | X-ray | 1.43 | A | 1-211 | [»] | |
6BI7 | X-ray | 2.80 | A/C/E/G | 1-211 | [»] | |
6K07 | X-ray | 2.24 | A | 7-211 | [»] | |
6K08 | X-ray | 2.31 | A | 7-211 | [»] | |
6KEA | X-ray | 2.35 | A/B/C/D | 12-211 | [»] | |
6KTO | X-ray | 3.45 | A/B | 1-211 | [»] | |
6NIF | X-ray | 2.00 | A | 2-211 | [»] | |
SASBDBi | Q9UI95 | |||||
SMRi | Q9UI95 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115722, 203 interactors |
ComplexPortali | CPX-3481, Shieldin complex |
CORUMi | Q9UI95 |
IntActi | Q9UI95, 161 interactors |
MINTi | Q9UI95 |
STRINGi | 9606.ENSP00000235310 |
PTM databases
iPTMneti | Q9UI95 |
PhosphoSitePlusi | Q9UI95 |
Polymorphism and mutation databases
BioMutai | MAD2L2 |
Proteomic databases
EPDi | Q9UI95 |
jPOSTi | Q9UI95 |
MassIVEi | Q9UI95 |
MaxQBi | Q9UI95 |
PaxDbi | Q9UI95 |
PeptideAtlasi | Q9UI95 |
PRIDEi | Q9UI95 |
ProteomicsDBi | 84481 |
TopDownProteomicsi | Q9UI95 |
Protocols and materials databases
Antibodypediai | 3766, 181 antibodies |
DNASUi | 10459 |
Genome annotation databases
Ensembli | ENST00000235310; ENSP00000235310; ENSG00000116670 ENST00000376667; ENSP00000365855; ENSG00000116670 ENST00000376692; ENSP00000365882; ENSG00000116670 |
GeneIDi | 10459 |
KEGGi | hsa:10459 |
UCSCi | uc001asp.4, human |
Organism-specific databases
CTDi | 10459 |
DisGeNETi | 10459 |
EuPathDBi | HostDB:ENSG00000116670.14 |
GeneCardsi | MAD2L2 |
GeneReviewsi | MAD2L2 |
HGNCi | HGNC:6764, MAD2L2 |
HPAi | ENSG00000116670, Low tissue specificity |
MalaCardsi | MAD2L2 |
MIMi | 604094, gene 617243, phenotype |
neXtProti | NX_Q9UI95 |
OpenTargetsi | ENSG00000116670 |
Orphaneti | 84, Fanconi anemia |
PharmGKBi | PA398 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3186, Eukaryota |
GeneTreei | ENSGT00940000153395 |
InParanoidi | Q9UI95 |
OrthoDBi | 1630737at2759 |
PhylomeDBi | Q9UI95 |
TreeFami | TF101085 |
Enzyme and pathway databases
PathwayCommonsi | Q9UI95 |
Reactomei | R-HSA-110312, Translesion synthesis by REV1 R-HSA-5655862, Translesion synthesis by POLK R-HSA-5656121, Translesion synthesis by POLI |
SIGNORi | Q9UI95 |
Miscellaneous databases
BioGRID-ORCSi | 10459, 623 hits in 852 CRISPR screens |
ChiTaRSi | MAD2L2, human |
EvolutionaryTracei | Q9UI95 |
GeneWikii | MAD2L2 |
GenomeRNAii | 10459 |
Pharosi | Q9UI95, Tbio |
PROi | PR:Q9UI95 |
RNActi | Q9UI95, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116670, Expressed in subventricular zone (inner) (primate) and 196 other tissues |
ExpressionAtlasi | Q9UI95, baseline and differential |
Genevisiblei | Q9UI95, HS |
Family and domain databases
Gene3Di | 3.30.900.10, 1 hit |
IDEALi | IID00285 |
InterProi | View protein in InterPro IPR003511, HORMA_dom IPR036570, HORMA_dom_sf |
Pfami | View protein in Pfam PF02301, HORMA, 1 hit |
SUPFAMi | SSF56019, SSF56019, 1 hit |
PROSITEi | View protein in PROSITE PS50815, HORMA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MD2L2_HUMAN | |
Accessioni | Q9UI95Primary (citable) accession number: Q9UI95 Secondary accession number(s): B3KNE3 Q9Y6I6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | January 11, 2001 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations