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Aliases for MIR4741 Gene

Subcategory (RNA class) for MIR4741 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR4741 Gene

  • MicroRNA 4741 2 3
  • RBBP8 4 5
  • Sporulation In The Absence Of SPO11 Protein 2 Homolog 4
  • Retinoblastoma-Interacting Protein And Myosin-Like 4
  • RB Binding Protein 8, Endonuclease 5
  • Retinoblastoma-Binding Protein 8 4
  • CtBP-Interacting Protein 4
  • Hsa-Mir-4741 3
  • EC 3.1.-.- 4
  • Mir-4741 3
  • RBBP-8 4
  • CTIP 4
  • SAE2 4
  • RIM 4

External Ids for MIR4741 Gene

Previous GeneCards Identifiers for MIR4741 Gene

  • GC18U900669
  • GC18P020516
  • GC18P022933

Summaries for MIR4741 Gene

Entrez Gene Summary for MIR4741 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR4741 Gene

MIR4741 (MicroRNA 4741) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR4741 include Jawad Syndrome and Seckel Syndrome 2. Among its related pathways are Meiosis and Cell Cycle Checkpoints. An important paralog of this gene is RBBP8NL.

UniProtKB/Swiss-Prot for MIR4741 Gene

  • Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR4741 Gene

Genomics for MIR4741 Gene

Regulatory Elements for MIR4741 Gene

Enhancers for MIR4741 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F022977 1.1 Ensembl ENCODE 11.9 +180.0 180013 2.0 PKNOX1 JUN INSM2 ZEB1 HIC1 EED PRDM10 FOS CREM ZNF362 MIR4741 RBBP8 RN7SL745P ENSG00000265943
GH18F022855 0.5 ENCODE 11.8 +59.0 59040 3.4 SCRT2 TEAD4 RBBP8 MIR4741 LOC101927571 PIR41681 ENSG00000273232
GH18F022798 1.2 Ensembl ENCODE 0.8 +1.5 1471 3.1 CTCF PKNOX1 CEBPG RAD21 IRF9 ZFHX2 ZNF366 ZNF143 SMC3 PRDM10 RBBP8 MIR4741 PIR41681
GH18F022825 1.1 FANTOM5 ENCODE 0.3 +28.8 28840 3.1 ZNF146 HLF CEBPB LOC101927571 PIR41681 MIR4741 RBBP8
GH18F022821 1.4 FANTOM5 Ensembl ENCODE 0.3 +24.2 24169 1.5 OSR2 JUND JUN CEBPB FOS PRDM1 RBBP8 PIR41681 MIR4741
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIR4741 on UCSC Golden Path with GeneCards custom track

Promoters for MIR4741 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001811858 -160 600

Genomic Location for MIR4741 Gene

Chromosome:
18
Start:
22,798,261 bp from pter
End:
23,026,488 bp from pter
Size:
228,228 bases
Orientation:
Plus strand

Genomic View for MIR4741 Gene

Genes around MIR4741 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR4741 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR4741 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR4741 Gene

Proteins for MIR4741 Gene

  • Protein details for MIR4741 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99708-COM1_HUMAN
    Recommended name:
    DNA endonuclease RBBP8
    Protein Accession:
    Q99708
    Secondary Accessions:
    • A6NKN2
    • A8K8W6
    • E7ETY1
    • O75371
    • Q8NHQ3

    Protein attributes for MIR4741 Gene

    Size:
    897 amino acids
    Molecular mass:
    101942 Da
    Quaternary structure:
    • Homodimer; dimerizes via the coiled coil domain (PubMed:15084581). Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1 (PubMed:9535825). Component of the BRCA1-RBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage (PubMed:10764811, PubMed:15485915, PubMed:16818604, PubMed:17965729). Interacts with RB1 (PubMed:9721205). Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex (PubMed:19759395). Interacts directly with RAD50 (PubMed:19759395). Interacts directly with NBN (PubMed:19759395). Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage (PubMed:20829486). Interacts with LM04 (via the LIM zinc-binding 1 domain) (PubMed:11751867). Interacts with SIAH1 (PubMed:14654780). Interacts with RNF138 (PubMed:26502057). Interacts with EXD2 (PubMed:26807646).
    • Homodimer; dimerizes via the coiled coil domain (PubMed:15084581). Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1 (PubMed:9535825). Component of the BRCA1-RBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage (PubMed:10764811, PubMed:15485915, PubMed:16818604, PubMed:17965729). Interacts with RB1 (PubMed:9721205). Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex (PubMed:19759395). Interacts directly with RAD50 (PubMed:19759395). Interacts directly with NBN (PubMed:19759395). Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage (PubMed:20829486). Interacts with LM04 (via the LIM zinc-binding 1 domain) (PubMed:11751867). Interacts with SIAH1 (PubMed:14654780). Interacts with RNF138 (PubMed:26502057). Interacts with EXD2 (PubMed:26807646).

    Three dimensional structures from OCA and Proteopedia for MIR4741 Gene

    Alternative splice isoforms for MIR4741 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR4741 Gene

Post-translational modifications for MIR4741 Gene

  • Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection.
  • Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control.
  • Ubiquitinated (PubMed:14654780, PubMed:16818604). Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteosomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control (PubMed:16818604). Ubiquitinated by RNF138 at its N-terminus (PubMed:26502057).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MIR4741 Gene

Domains & Families for MIR4741 Gene

Gene Families for MIR4741 Gene

Protein Domains for MIR4741 Gene

Graphical View of Domain Structure for InterPro Entry

Q99708

UniProtKB/Swiss-Prot:

COM1_HUMAN :
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • Belongs to the COM1/SAE2/CtIP family.
Domain:
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage.
Family:
  • Belongs to the COM1/SAE2/CtIP family.
genes like me logo Genes that share domains with MIR4741: view

No data available for Suggested Antigen Peptide Sequences for MIR4741 Gene

Function for MIR4741 Gene

Molecular function for MIR4741 Gene

UniProtKB/Swiss-Prot Function:
Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.
UniProtKB/Swiss-Prot Induction:
Levels increase dramatically as dividing cells traverse the G1/S boubdary. Down-regulated in tamoxifen-resistant breast cancer cells.

Enzyme Numbers (IUBMB) for MIR4741 Gene

Gene Ontology (GO) - Molecular Function for MIR4741 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI --
GO:0001106 RNA polymerase II transcription corepressor activity IDA --
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IDA --
GO:0004518 nuclease activity IEA --
genes like me logo Genes that share ontologies with MIR4741: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR4741 Gene

Localization for MIR4741 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR4741 Gene

Nucleus. Chromosome. Note=Associates with sites of DNA damage in S/G2 phase (PubMed:10764811). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604). {ECO:0000269 PubMed:10764811, ECO:0000269 PubMed:16818604}.

Gene Ontology (GO) - Cellular Components for MIR4741 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA --
GO:0017053 transcriptional repressor complex IDA --
genes like me logo Genes that share ontologies with MIR4741: view

No data available for Subcellular locations from COMPARTMENTS for MIR4741 Gene

Pathways & Interactions for MIR4741 Gene

genes like me logo Genes that share pathways with MIR4741: view

Pathways by source for MIR4741 Gene

Gene Ontology (GO) - Biological Process for MIR4741 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint TAS --
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0000729 DNA double-strand break processing TAS --
genes like me logo Genes that share ontologies with MIR4741: view

No data available for SIGNOR curated interactions for MIR4741 Gene

Transcripts for MIR4741 Gene

mRNA/cDNA for MIR4741 Gene

(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR4741 Gene

No ASD Table

Relevant External Links for MIR4741 Gene

GeneLoc Exon Structure for
MIR4741
ECgene alternative splicing isoforms for
MIR4741

Expression for MIR4741 Gene

mRNA expression in normal human tissues for MIR4741 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR4741 Gene:

MIR4741
genes like me logo Genes that share expression patterns with MIR4741: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MIR4741 Gene

Orthologs for MIR4741 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIR4741 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBBP8 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RBBP8 35
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBBP8 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP8 35
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp8 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBBP8 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBBP8 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rbbp8 35
  • 35 (a)
OneToOne
Species where no ortholog for MIR4741 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIR4741 Gene

ENSEMBL:
Gene Tree for MIR4741 (if available)
TreeFam:
Gene Tree for MIR4741 (if available)

Paralogs for MIR4741 Gene

Paralogs for MIR4741 Gene

Pseudogenes.org Pseudogenes for MIR4741 Gene

genes like me logo Genes that share paralogs with MIR4741: view

Variants for MIR4741 Gene

Sequence variations from dbSNP and Humsavar for MIR4741 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs111884214 -- 22,933,735(+) TGGAC(C/G)GGCGG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs112510976 -- 22,932,440(+) TTTAG(C/T)ACCCC intron-variant, upstream-variant-2KB
rs114643476 -- 22,932,339(+) TTACA(C/T)AGTCA intron-variant, upstream-variant-2KB
rs115479920 -- 22,933,413(+) GGGCT(A/G)TCCGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs116097101 -- 22,933,469(+) AAGGG(C/T)GAAAG intron-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

Relevant External Links for MIR4741 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR4741

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MIR4741 Gene

Disorders for MIR4741 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIR4741 Gene - From: GeneCards

Disorder Aliases PubMed IDs
jawad syndrome
  • microcephaly with mental retardation and digital anomalies
seckel syndrome 2
  • seckel syndrome type 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COM1_HUMAN
  • Jawad syndrome (JWDS) [MIM:251255]: A syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. {ECO:0000269 PubMed:21998596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk (PubMed:21799032). Exhibits sensitivity to tamoxifen in certain breast cancer cell lines (PubMed:18171986). {ECO:0000269 PubMed:18171986, ECO:0000269 PubMed:21799032}.
  • Seckel syndrome 2 (SCKL2) [MIM:606744]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:21998596, ECO:0000269 PubMed:24389050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR4741

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR4741
genes like me logo Genes that share disorders with MIR4741: view

No data available for Genatlas for MIR4741 Gene

Publications for MIR4741 Gene

  1. EXD2 promotes homologous recombination by facilitating DNA end resection. (PMID: 26807646) Broderick R. … Niedzwiedz W. (Nat. Cell Biol. 2016) 4 64
  2. System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability. (PMID: 25755297) Xiao Z. … Vertegaal A.C. (Mol. Cell. Proteomics 2015) 4 64
  3. Systematic E2 screening reveals a UBE2D-RNF138-CtIP axis promoting DNA repair. (PMID: 26502057) Schmidt C.K. … Jackson S.P. (Nat. Cell Biol. 2015) 4 64
  4. Uncovering global SUMOylation signaling networks in a site-specific manner. (PMID: 25218447) Hendriks I.A. … Vertegaal A.C. (Nat. Struct. Mol. Biol. 2014) 4 64
  5. Genomic analysis of primordial dwarfism reveals novel disease genes. (PMID: 24389050) Shaheen R. … Alkuraya F.S. (Genome Res. 2014) 4 64

Products for MIR4741 Gene

Sources for MIR4741 Gene

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