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This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
MAPKAP1 (MAPK Associated Protein 1) is a Protein Coding gene. Diseases associated with MAPKAP1 include Short Syndrome and Nephrogenic Systemic Fibrosis. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein kinase binding and phosphatidylinositol-3,4,5-trisphosphate binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 24365180 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IDA | 17303383 |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 17303383 |
GO:0016301 | kinase activity | IEA | -- |
GO:0019901 | protein kinase binding | IPI | 21177249 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IDA | 17303383 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | GAB1 signalosome |
.89
|
|
3 | CD28 co-stimulation | ||
4 | mTOR signaling pathway (KEGG) | ||
5 | Constitutive Signaling by AKT1 E17K in Cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016310 | phosphorylation | IEA | -- |
GO:0021762 | substantia nigra development | HEP | 22926577 |
GO:0030950 | establishment or maintenance of actin cytoskeleton polarity | IBA | 21873635 |
GO:0032148 | activation of protein kinase B activity | TAS | -- |
GO:0033138 | positive regulation of peptidyl-serine phosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 | |||
OSI-027 | Investigational | Pharma | inhibitor | MTORC1/ mTORC2 inhibitor, Kinase Inhibitors | 0 | |
AZD8055 | Pharma | inhibitor | MTOR inhibitor, Kinase Inhibitors | 0 | ||
MLN0128 | Pharma | inhibitor | Kinase Inhibitors | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAPKAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAPKAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAPKAP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mapkap1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mapkap1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAPKAP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAPKAP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAPKAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAPKAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mapkap1 30 |
|
||
Str.16707 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | mapkap1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mapkap1 31 |
|
OneToOne | |
LOC100537196 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008831 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sin1 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | sinh-1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1005 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111458512 | Benign: not provided | 125,438,992(-) |
C/T NM_001006617.3(MAPKAP1):c.1464G>A (p.Ser488=) |
SYNONYMOUS | |
rs11542134 | Benign: not provided | 125,543,111(-) |
C/T NM_001006617.3(MAPKAP1):c.906G>A (p.Lys302=) |
SYNONYMOUS | |
rs142713473 | Likely Benign: not provided | 125,672,527(-) |
C/T NM_001006617.3(MAPKAP1):c.48G>A (p.Gln16=) |
SYNONYMOUS_VARIANT,INTRON | |
rs35549826 | Benign: not provided | 125,444,576(-) |
C/T NM_001006617.3(MAPKAP1):c.1368G>A (p.Thr456=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1597155 | CNV | insertion | 17803354 |
esv2659060 | CNV | deletion | 23128226 |
esv2662785 | CNV | deletion | 23128226 |
esv2665863 | CNV | deletion | 23128226 |
esv3573387 | CNV | loss | 25503493 |
esv3576704 | CNV | gain | 25503493 |
esv3621749 | CNV | loss | 21293372 |
esv3621752 | CNV | loss | 21293372 |
esv3621754 | CNV | loss | 21293372 |
nsv1046626 | CNV | gain | 25217958 |
nsv1052626 | CNV | gain | 25217958 |
nsv466560 | CNV | loss | 19166990 |
nsv472759 | CNV | novel sequence insertion | 20440878 |
nsv478448 | CNV | novel sequence insertion | 20440878 |
nsv515979 | CNV | loss | 19592680 |
nsv615293 | CNV | loss | 21841781 |
nsv6714 | CNV | insertion | 18451855 |
nsv825077 | CNV | gain | 20364138 |
nsv831722 | CNV | gain | 17160897 |
nsv972451 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
short syndrome |
|
|
nephrogenic systemic fibrosis |
|
|
bardet-biedl syndrome |
|
|