Free for academic non-profit institutions. Other users need a Commercial license
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]
MAD2L1BP (MAD2L1 Binding Protein) is a Protein Coding gene. Diseases associated with MAD2L1BP include Spinal Muscular Atrophy, Type Iii.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16169070 |
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 | -- |
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 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAD2L1BP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAD2L1BP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAD2L1BP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mad2l1bp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mad2l1bp 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAD2L1BP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAD2L1BP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAD2L1BP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAD2L1BP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mad2l1bp 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101886806 30 |
|
||
MAD2L1BP 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713859 | Benign: not provided | 43,640,298(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2675471 | CNV | deletion | 23128226 |
esv3608815 | CNV | loss | 21293372 |
nsv5281 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinal muscular atrophy, type iii |
|
|