Human Gene MAD2L1BP (ENST00000372171.5) from GENCODE V44
  Description: Homo sapiens MAD2L1 binding protein (MAD2L1BP), transcript variant 2, mRNA. (from RefSeq NM_014628)
RefSeq Summary (NM_014628): 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].
Gencode Transcript: ENST00000372171.5
Gencode Gene: ENSG00000124688.14
Transcript (Including UTRs)
   Position: hg38 chr6:43,635,840-43,640,941 Size: 5,102 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr6:43,635,876-43,640,533 Size: 4,658 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:43,635,840-43,640,941)mRNA (may differ from genome)Protein (274 aa)
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-  Comments and Description Text from UniProtKB
  ID: MD2BP_HUMAN
DESCRIPTION: RecName: Full=MAD2L1-binding protein; AltName: Full=Caught by MAD2 protein;
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.
SUBUNIT: Interacts with MAD2L1.
INTERACTION: Q13257:MAD2L1; NbExp=4; IntAct=EBI-712181, EBI-78203; Q15645:TRIP13; NbExp=5; IntAct=EBI-712181, EBI-358993;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle. Note=During early mitosis, unevenly distributed throughout the nucleoplasm. From metaphase to anaphase, concentrated on the spindle.
DEVELOPMENTAL STAGE: During the cell cycle, levels increase and then remain constant until late mitosis after which they drop.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the MAD2L1BP family.
SEQUENCE CAUTION: Sequence=BAG59665.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.95 RPKM in Testis
Total median expression: 358.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.9036-0.219 Picture PostScript Text
3' UTR -109.90408-0.269 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009511 - MAD1/Cdc20-bound-Mad2-bd

Pfam Domains:
PF06581 - Mad1 and Cdc20-bound-Mad2 binding

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QYF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15013
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007093 mitotic cell cycle checkpoint
GO:0007096 regulation of exit from mitosis

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK297172 - Homo sapiens cDNA FLJ56354 complete cds, highly similar to MAD2L1-binding protein.
BC002904 - Homo sapiens MAD2L1 binding protein, mRNA (cDNA clone MGC:11282 IMAGE:3945348), complete cds.
D14811 - Homo sapiens KIAA0110 mRNA, complete cds.
CR456893 - Homo sapiens full open reading frame cDNA clone RZPDo834E0111D for gene MAD2L1BP, MAD2L1 binding protein; complete cds, incl. stopcodon.
AB384438 - Synthetic construct DNA, clone: pF1KA0110, Homo sapiens MAD2L1BP gene for MAD2L1-binding protein, complete cds, without stop codon, in Flexi system.
CU678282 - Synthetic construct Homo sapiens gateway clone IMAGE:100018702 5' read MAD2L1BP mRNA.
HQ447387 - Synthetic construct Homo sapiens clone IMAGE:100070708; CCSB004424_01 MAD2L1 binding protein (MAD2L1BP) gene, encodes complete protein.
KJ892809 - Synthetic construct Homo sapiens clone ccsbBroadEn_02203 MAD2L1BP gene, encodes complete protein.
DQ597054 - Homo sapiens piRNA piR-35120, complete sequence.
DQ579176 - Homo sapiens piRNA piR-47288, complete sequence.
JD377030 - Sequence 358054 from Patent EP1572962.
JD200981 - Sequence 182005 from Patent EP1572962.
JD490032 - Sequence 471056 from Patent EP1572962.
JD232587 - Sequence 213611 from Patent EP1572962.
JD117989 - Sequence 99013 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DLV3, CMT2, ENST00000372171.1, ENST00000372171.2, ENST00000372171.3, ENST00000372171.4, KIAA0110, MD2BP_HUMAN, NM_014628, Q15013, Q6IBB1, uc003ovv.1, uc003ovv.2, uc003ovv.3, uc003ovv.4, uc003ovv.5
UCSC ID: ENST00000372171.5
RefSeq Accession: NM_014628
Protein: Q15013 (aka MD2BP_HUMAN or M2BP_HUMAN)
CCDS: CCDS4904.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.