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APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
APIP (APAF1 Interacting Protein) is a Protein Coding gene. Diseases associated with APIP include Pyruvate Dehydrogenase E3-Binding Protein Deficiency. Among its related pathways are S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and methylthioribulose 1-phosphate dehydratase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008270 | zinc ion binding | IDA,IEA | 24367089 |
GO:0016829 | lyase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 16189514 |
GO:0046570 | methylthioribulose 1-phosphate dehydratase activity | IBA,IDA | 24367089 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,IDA | 23285211 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sulfur amino acid metabolism | ||
2 | Metabolism |
.40
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3 | S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation | ||
4 | Viral mRNA Translation | ||
5 | CDK-mediated phosphorylation and removal of Cdc6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0008652 | cellular amino acid biosynthetic process | IEA | -- |
GO:0009086 | methionine biosynthetic process | IEA | -- |
GO:0019284 | L-methionine salvage from S-adenosylmethionine | IEA | -- |
GO:0019509 | L-methionine salvage from methylthioadenosine | IMP,IBA | 22837397 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5-(Methylthio)-2,3-dioxopentyl phosphate |
|
115974-73-7 |
|
|||
5-Methylthioribulose 1-phosphate |
|
86316-83-8 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | APIP 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | APIP 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | APIP 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | APIP 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Apip 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | APIP 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | APIP 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | apip 32 |
|
||
Str.1776 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6992 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | apip 33 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9020 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG11134 33 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | MTNB_ANOGA 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | ZC373.5 33 32 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MDE1 33 32 |
|
OneToOne | |
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACL126W 32 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G53850 32 |
|
||
soybean (Glycine max) |
eudicotyledons | Gma.4561 32 |
|
||
rice (Oryza sativa) |
Liliopsida | Os11g0484000 32 |
|
||
Os.11937 32 |
|
||||
wheat (Triticum aestivum) |
Liliopsida | Ta.14582 32 |
|
||
corn (Zea mays) |
Liliopsida | Zm.2643 32 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU09264 32 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC20H4.05c 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | Cin.9700 32 |
|
||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9700 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1049306 | benign, not specified, Pyruvate dehydrogenase complex deficiency, not provided | 34,916,722(-) | C/T | upstream_transcript_variant | |
rs1049307 | benign, not specified, Pyruvate dehydrogenase complex deficiency, not provided | 34,916,763(-) | T/C/G | upstream_transcript_variant | |
rs1064796807 | likely-pathogenic, not provided, Pyruvate dehydrogenase E3-binding protein deficiency | 34,916,789(-) | G/A | upstream_transcript_variant | |
rs112032820 | benign, Pyruvate dehydrogenase complex deficiency | 34,916,527(-) | C/G/T | upstream_transcript_variant | |
rs113073242 | benign, Pyruvate dehydrogenase complex deficiency | 34,916,454(-) | A/G | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666133 | CNV | deletion | 23128226 |
esv2673788 | CNV | deletion | 23128226 |
esv2759817 | CNV | loss | 17122850 |
esv34511 | CNV | loss | 17911159 |
esv3625916 | CNV | loss | 21293372 |
esv3625917 | CNV | loss | 21293372 |
nsv1144547 | CNV | deletion | 24896259 |
nsv832118 | CNV | gain | 17160897 |
nsv832119 | CNV | gain | 17160897 |
nsv8807 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate dehydrogenase e3-binding protein deficiency |
|
|