MAD2L1BP Gene (Protein Coding)

MAD2L1 Binding Protein

GC06P043629
GIFtS:
35
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. Alternat... See more...

Aliases for MAD2L1BP Gene

Aliases for MAD2L1BP Gene

  • MAD2L1 Binding Protein 2 3 5
  • CMT2 2 3 4
  • MAD2L1-Binding Protein 3 4
  • Caught By MAD2 Protein 3 4
  • P31(Comet) 3 4
  • KIAA0110 2 4
  • DJ261G23.1 2
  • MAD2L1BP 5

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. Diseases associated with MAD2L1BP include Spinal Muscular Atrophy, Type Iii.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MAD2L1BP Gene

Genomics for MAD2L1BP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAD2L1BP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAD2L1BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAD2L1BP

Top Transcription factor binding sites by QIAGEN in the MAD2L1BP gene promoter:
  • NRSF form 1
  • NRSF form 2

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)
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 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 Lys95 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

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:
  • Caught by MAD2 protein (MD2BP_HUMAN)

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
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAD2L1BP

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 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoli (3)
  • Nucleoplasm (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:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 10942595
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with MAD2L1BP: view

Pathways & Interactions for MAD2L1BP Gene

PathCards logo

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

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 :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAD2L1BP

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

No ASD Table

Relevant External Links for MAD2L1BP Gene

GeneLoc Exon Structure for
MAD2L1BP

Expression for MAD2L1BP Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MAD2L1BP Gene
mRNA expression by BioGPS for MAD2L1BP GenemRNA expression by GTEx 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, MaxQB, and MOPED for MAD2L1BP Gene



Protein tissue co-expression partners for MAD2L1BP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
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 30 31
  • 99.15 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAD2L1BP 30 31
  • 88.2 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MAD2L1BP 30 31
  • 87.59 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mad2l1bp 30
  • 82.45 (n)
Mouse
(Mus musculus)
 Mammalia Mad2l1bp 30 17 31
  • 81.37 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MAD2L1BP 31
  • 70 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MAD2L1BP 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MAD2L1BP 30 31
  • 65.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MAD2L1BP 31
  • 55 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mad2l1bp 30
  • 61.21 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC101886806 30
  • 53.15 (n)
MAD2L1BP 31
  • 26 (a)
 OneToOne
Species where no ortholog for MAD2L1BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MAD2L1BP: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAD2L1BP Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
713859 Benign: not provided 43,640,298(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAD2L1BP Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for MAD2L1BP Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, type iii
  • sma3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAD2L1BP

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MAD2L1BP: view

No data available for 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 23
  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
  3. p31comet blocks Mad2 activation through structural mimicry. (PMID: 18022368) Yang M … Luo X (Cell 2007) 3 4
  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
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

ExternalLinks

View latest publications for MAD2L1BP gene in Mastermind

Products for MAD2L1BP Gene

  • Signalway ELISA kits for MAD2L1BP
  • Signalway Proteins for MAD2L1BP

Sources for MAD2L1BP Gene