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MAD2L1BP Gene(Protein Coding)

MAD2L1 Binding Protein

GCID:
GC06P043629
GIFtS:
40
Genes Participants
UDN Logo

Aliases for MAD2L1BP Gene

Aliases for MAD2L1BP Gene

  • MAD2L1 Binding Protein 2 3 5
  • Caught By MAD2 Protein 3 4
  • CMT2 3 4
  • MAD2L1-Binding Protein 3
  • KIAA0110 4

External Ids for MAD2L1BP Gene

Previous GeneCards Identifiers for MAD2L1BP Gene

  • GC06P043598
  • GC06P043650
  • GC06P043711
  • GC06P043597
  • GC06P043316

Summaries for MAD2L1BP Gene

Entrez Gene Summary for MAD2L1BP Gene

  • The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAD2L1BP Gene

MAD2L1BP (MAD2L1 Binding Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MAD2L1BP Gene

  • May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex.

Gene Wiki entry for MAD2L1BP Gene

Additional gene information for MAD2L1BP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAD2L1BP Gene

Genomics for MAD2L1BP Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MAD2L1BP Gene

Promoters and enhancers for MAD2L1BP Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I043624 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.5 -1501 7.4 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 GTPBP2 MAD2L1BP POLH ZNF318 ABCC10 RRP36 RPS2P29 CUL7 BICRAL XPO5
GH06I043634 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +6.4 6417 2.1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MAD2L1BP GTPBP2 RRP36 ZNF318 POLH ABCC10 CUL7 RPL34P14 TJAP1 RPS2P29
GH06I043686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 +58.2 58182 1.8 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 FOS MRPS18A MYMX RSPH9 GTPBP2 MAD2L1BP GC06M043677 GC06P043362
GH06I043723 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +95.4 95367 2.6 MLX FEZF1 DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 GTPBP2 ABCC10 ZNF318 POLH BICRAL RPS2P29 RRP36 MAD2L1BP VEGFA MRPS18A
GH06I043667 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 +39.6 39586 3.9 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 POLR2B E2F8 ZNF143 DEK VEGFA RSPH9 GTPBP2 MAD2L1BP RPS2P29 ENSG00000252218 GC06P043677 GC06P043678 GC06P043362
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAD2L1BP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAD2L1BP gene promoter:

Genomic Locations for MAD2L1BP Gene

Genomic Locations for MAD2L1BP Gene
chr6:43,629,540-43,640,952
(GRCh38/hg38)
Size:
11,413 bases
Orientation:
Plus strand
chr6:43,597,277-43,608,689
(GRCh37/hg19)

Genomic View for MAD2L1BP Gene

Genes around MAD2L1BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAD2L1BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAD2L1BP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAD2L1BP Gene

Proteins for MAD2L1BP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MAD2L1BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15013-MD2BP_HUMAN
    Recommended name:
    MAD2L1-binding protein
    Protein Accession:
    Q15013
    Secondary Accessions:
    • B4DLV3
    • E9PAT7
    • Q6IBB1

    Protein attributes for MAD2L1BP Gene

    Size:
    274 amino acids
    Molecular mass:
    31052 Da
    Quaternary structure:
    • Interacts with MAD2L1.
    SequenceCaution:
    • Sequence=BAG59665.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAD2L1BP Gene

    Alternative splice isoforms for MAD2L1BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAD2L1BP Gene

Protein Expression for MAD2L1BP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAD2L1BP Gene

  • Ubiquitination at posLast=9595 and isoforms=3229
  • Modification sites at PhosphoSitePlus

Other Protein References for MAD2L1BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAD2L1BP Gene

Domains & Families for MAD2L1BP Gene

Gene Families for MAD2L1BP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAD2L1BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAD2L1BP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15013

UniProtKB/Swiss-Prot:

MD2BP_HUMAN :
  • Belongs to the MAD2L1BP family.
Family:
  • Belongs to the MAD2L1BP family.
genes like me logo Genes that share domains with MAD2L1BP: view

Function for MAD2L1BP Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MAD2L1BP Gene

UniProtKB/Swiss-Prot Function:
May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex.

Phenotypes From GWAS Catalog for MAD2L1BP Gene

Gene Ontology (GO) - Molecular Function for MAD2L1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with MAD2L1BP: view

Phenotypes for MAD2L1BP Gene

GenomeRNAi human phenotypes for MAD2L1BP:
genes like me logo Genes that share phenotypes with MAD2L1BP: view

Animal Model Products

miRNA for MAD2L1BP Gene

miRTarBase miRNAs that target MAD2L1BP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAD2L1BP Gene

Localization for MAD2L1BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAD2L1BP Gene

Nucleus. Cytoplasm, cytoskeleton, spindle. Note=During early mitosis, unevenly distributed throughout the nucleoplasm. From metaphase to anaphase, concentrated on the spindle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAD2L1BP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
mitochondrion 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAD2L1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10942595
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 10942595
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with MAD2L1BP: view

Pathways & Interactions for MAD2L1BP Gene

SuperPathways for MAD2L1BP Gene

PathCards logo More details on SuperPathways for MAD2L1BP
No Data Available

Gene Ontology (GO) - Biological Process for MAD2L1BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007093 mitotic cell cycle checkpoint IMP 18022368
GO:0007096 regulation of exit from mitosis IMP,IEA 12456649
genes like me logo Genes that share ontologies with MAD2L1BP: view

No data available for Pathways by source and SIGNOR curated interactions for MAD2L1BP Gene

Drugs & Compounds for MAD2L1BP Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MAD2L1BP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MAD2L1BP Gene

(2) REFSEQ mRNAs :
(229) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAD2L1BP Gene

No ASD Table

Relevant External Links for MAD2L1BP Gene

GeneLoc Exon Structure for
MAD2L1BP
ECgene alternative splicing isoforms for
MAD2L1BP

Expression for MAD2L1BP Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAD2L1BP Gene

mRNA expression in normal human tissues for MAD2L1BP Gene
mRNA expression by GTEx for MAD2L1BP GenemRNA expression by BioGPS for MAD2L1BP Gene

Protein differential expression in normal tissues from HIPED for MAD2L1BP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.5) and Lymph node (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAD2L1BP Gene



Protein tissue co-expression partners for MAD2L1BP Gene

NURSA nuclear receptor signaling pathways regulating expression of MAD2L1BP Gene:

MAD2L1BP

SOURCE GeneReport for Unigene cluster for MAD2L1BP Gene:

Hs.122346

Evidence on tissue expression from TISSUES for MAD2L1BP Gene

  • Bone marrow(4.3)
  • Lung(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MAD2L1BP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAD2L1BP Gene

Orthologs for MAD2L1BP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAD2L1BP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MAD2L1BP 33 34
  • 99.15 (n)
cow
(Bos Taurus)
 Mammalia MAD2L1BP 33 34
  • 88.2 (n)
dog
(Canis familiaris)
 Mammalia MAD2L1BP 33 34
  • 87.59 (n)
rat
(Rattus norvegicus)
 Mammalia Mad2l1bp 33
  • 82.45 (n)
mouse
(Mus musculus)
 Mammalia Mad2l1bp 33 16 34
  • 81.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia MAD2L1BP 34
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MAD2L1BP 34
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MAD2L1BP 33 34
  • 65.28 (n)
lizard
(Anolis carolinensis)
 Reptilia MAD2L1BP 34
  • 55 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mad2l1bp 33
  • 61.21 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC101886806 33
  • 53.15 (n)
MAD2L1BP 34
  • 26 (a)
 OneToOne
Species where no ortholog for MAD2L1BP 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAD2L1BP Gene

ENSEMBL:
Gene Tree for MAD2L1BP (if available)
TreeFam:
Gene Tree for MAD2L1BP (if available)

Paralogs for MAD2L1BP Gene

No data available for Paralogs for MAD2L1BP Gene

Variants for MAD2L1BP Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MAD2L1BP Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000023480 -- 43,638,366(+) A/G intron_variant
rs1000083600 -- 43,638,112(+) G/A/C intron_variant
rs1000518457 -- 43,634,571(+) TTTTTTTT/TTTTTTTTT genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001241494 -- 43,638,777(+) A/C intron_variant
rs1001343988 -- 43,632,143(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAD2L1BP Gene

Variant ID Type Subtype PubMed ID
esv2675471 CNV deletion 23128226
esv3608815 CNV loss 21293372
nsv5281 CNV deletion 18451855

Variation tolerance for MAD2L1BP Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAD2L1BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAD2L1BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAD2L1BP Gene

Disorders for MAD2L1BP Gene

Additional Disease Information for MAD2L1BP

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAD2L1BP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAD2L1BP Gene

Publications for MAD2L1BP Gene

  1. Identification of a MAD2-binding protein, CMT2, and its role in mitosis. (PMID: 12456649) Habu T … Matsumoto T (The EMBO journal 2002) 2 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  3. p31comet blocks Mad2 activation through structural mimicry. (PMID: 18022368) Yang M … Luo X (Cell 2007) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for MAD2L1BP Gene

Sources for MAD2L1BP Gene

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