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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

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

Genomics for MAD2L1BP Gene

Regulatory Elements for MAD2L1BP Gene

Enhancers for MAD2L1BP 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
GH06G043723 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +95.4 95368 2.6 MLX CREB3L1 FEZF1 DMAP1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 TBX21 MAD2L1BP VEGFA BICRAL MRPS18A RSPH9 GTPBP2 POLH CAPN11 SLC35B2 NFKBIE
GH06G043667 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 +39.6 39586 3.9 CREB3L1 MLX AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 RSPH9 GTPBP2 MAD2L1BP VEGFA RPS2P29 ENSG00000252218 GC06P043678 GC06P043677
GH06G043701 1.7 Ensembl ENCODE dbSUPER 11 +73.4 73360 3.2 MLX FEZF1 ZNF263 SP3 MCM3 SSRP1 GLIS1 RCOR2 NBN NR2C1 SRF BICRAL CUL7 RSPH9 MAD2L1BP GTPBP2 VEGFA POLH LOC100132242 GC06P043698
GH06G043698 1.6 Ensembl ENCODE dbSUPER 11.1 +69.7 69741 2.2 HDGF FOXA2 MLX AGO1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B SLC30A9 AARS2 VEGFA RSPH9 MAD2L1BP GTPBP2 PEX6 CUL7 LRRC73 GC06P043698 LOC100132242
GH06G043713 1.5 Ensembl ENCODE dbSUPER 11.1 +86.1 86072 3.7 HDGF ATF1 WRNIP1 ARID4B ZNF48 TCF12 ZNF121 ZNF766 GATA2 ZNF207 MRPS18A RSPH9 GTPBP2 MAD2L1BP NFKBIE SLC35B2 TMEM151B LOC100132242 ENSG00000236961
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAD2L1BP on UCSC Golden Path with GeneCards custom track

Promoters for MAD2L1BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197154 -340 2001 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D

Genomic Location for MAD2L1BP Gene

Chromosome:
6
Start:
43,629,540 bp from pter
End:
43,640,952 bp from pter
Size:
11,413 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for MAD2L1BP Gene

Proteins for MAD2L1BP Gene

  • 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

Post-translational modifications for MAD2L1BP Gene

  • Ubiquitination at posLast=9595 and Lys229
  • 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

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

No data available for Gene Families for MAD2L1BP Gene

Function for MAD2L1BP Gene

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.

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

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

Animal Model Products

CRISPR Products

miRNA for MAD2L1BP Gene

miRTarBase miRNAs that target MAD2L1BP

Inhibitory RNA Products

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

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

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 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

No Compound Related Data Available

Transcripts for MAD2L1BP Gene

CRISPR Products

Inhibitory RNA Products

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

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

Primer Products

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 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia MAD2L1BP 34 35
  • 88.2 (n)
dog
(Canis familiaris)
Mammalia MAD2L1BP 34 35
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Mad2l1bp 34
  • 82.45 (n)
mouse
(Mus musculus)
Mammalia Mad2l1bp 34 16 35
  • 81.37 (n)
oppossum
(Monodelphis domestica)
Mammalia MAD2L1BP 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAD2L1BP 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAD2L1BP 34 35
  • 65.28 (n)
lizard
(Anolis carolinensis)
Reptilia MAD2L1BP 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mad2l1bp 34
  • 61.21 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101886806 34
  • 53.15 (n)
MAD2L1BP 35
  • 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

Sequence variations from dbSNP and Humsavar for MAD2L1BP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000023480 -- 43,638,366(+) TGAGG(A/G)TATTA intron-variant
rs1000083600 -- 43,638,112(+) AGGCT(A/C/G)CTCTC intron-variant
rs1000518457 -- 43,634,570(+) TTTTC(-/T)TTTTT intron-variant, upstream-variant-2KB
rs1001241494 -- 43,638,777(+) GGCGA(A/C)AGAGC intron-variant
rs1001343988 -- 43,632,143(+) GATCC(A/G)CCTGC 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)

Relevant External Links 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

Relevant External Links for MAD2L1BP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAD2L1BP

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. (EMBO J. 2002) 2 3 4 22 64
  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. … Nomura N. (DNA Res. 1995) 2 3 4 64
  3. p31comet blocks Mad2 activation through structural mimicry. (PMID: 18022368) Yang M. … Luo X. (Cell 2007) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for MAD2L1BP Gene

Sources for MAD2L1BP Gene

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