Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APIP Gene

Aliases for APIP Gene

  • APAF1 Interacting Protein 2 3 5
  • APAF1-Interacting Protein 3 4
  • MTRu-1-P Dehydratase 3 4
  • HAPIP 3 4
  • Probable Methylthioribulose-1-Phosphate Dehydratase 3
  • Methylthioribulose-1-Phosphate Dehydratase 2
  • EC 4.2.1.109 4
  • CGI-29 3
  • MMRP19 3
  • APIP2 3
  • CGI29 3

External Ids for APIP Gene

Previous GeneCards Identifiers for APIP Gene

  • GC11M034861
  • GC11M034602

Summaries for APIP Gene

Entrez Gene Summary for APIP Gene

  • 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]

GeneCards Summary for APIP Gene

APIP (APAF1 Interacting Protein) is a Protein Coding gene. Diseases associated with APIP include Chromosome 17Q11.2 Deletion Syndrome, 1.4Mb. Among its related pathways are Sulfur amino acid metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include identical protein binding and methylthioribulose 1-phosphate dehydratase activity.

UniProtKB/Swiss-Prot for APIP Gene

  • Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death.

Gene Wiki entry for APIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APIP Gene

Genomics for APIP Gene

Regulatory Elements for APIP Gene

Enhancers for APIP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around APIP on UCSC Golden Path with GeneCards custom track

Promoters for APIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APIP on UCSC Golden Path with GeneCards custom track

Genomic Location for APIP Gene

Chromosome:
11
Start:
34,853,094 bp from pter
End:
34,916,499 bp from pter
Size:
63,406 bases
Orientation:
Minus strand

Genomic View for APIP Gene

Genes around APIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APIP Gene

Proteins for APIP Gene

  • Protein details for APIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GX9-MTNB_HUMAN
    Recommended name:
    Methylthioribulose-1-phosphate dehydratase
    Protein Accession:
    Q96GX9
    Secondary Accessions:
    • A8K9D3
    • Q6PJX6
    • Q8WVU2
    • Q96HK2
    • Q9Y318

    Protein attributes for APIP Gene

    Size:
    242 amino acids
    Molecular mass:
    27125 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with APAF1. May interact with CASP1.

    Three dimensional structures from OCA and Proteopedia for APIP Gene

    Alternative splice isoforms for APIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APIP Gene

Proteomics data for APIP Gene at MOPED

Post-translational modifications for APIP Gene

  • Ubiquitination at Lys 33
  • Modification sites at PhosphoSitePlus

Other Protein References for APIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APIP Gene

Domains & Families for APIP Gene

Protein Domains for APIP Gene

Suggested Antigen Peptide Sequences for APIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GX9

UniProtKB/Swiss-Prot:

MTNB_HUMAN :
  • Belongs to the aldolase class II family. MtnB subfamily.
Family:
  • Belongs to the aldolase class II family. MtnB subfamily.
genes like me logo Genes that share domains with APIP: view

No data available for Gene Families for APIP Gene

Function for APIP Gene

Molecular function for APIP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-methyl-5-thio-D-ribulose 1-phosphate = 5-(methylthio)-2,3-dioxopentyl phosphate + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death.

Enzyme Numbers (IUBMB) for APIP Gene

Gene Ontology (GO) - Molecular Function for APIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with APIP: view

Phenotypes for APIP Gene

MGI mutant phenotypes for APIP:
inferred from 1 alleles
GenomeRNAi human phenotypes for APIP:
genes like me logo Genes that share phenotypes with APIP: view

Animal Models for APIP Gene

MGI Knock Outs for APIP:
  • Apip tm1b(EUCOMM)Wtsi

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APIP Gene

Localization for APIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for APIP Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APIP Gene COMPARTMENTS Subcellular localization image for APIP gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for APIP Gene

Pathways & Interactions for APIP Gene

genes like me logo Genes that share pathways with APIP: view

UniProtKB/Swiss-Prot Q96GX9-MTNB_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 2/6.

SIGNOR curated interactions for APIP Gene

Inactivates:

Gene Ontology (GO) - Biological Process for APIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006595 polyamine metabolic process TAS --
GO:0006915 apoptotic process IEA --
GO:0019509 L-methionine biosynthetic process from methylthioadenosine IMP,TAS 22837397
GO:0044281 small molecule metabolic process TAS --
GO:0070372 regulation of ERK1 and ERK2 cascade IEA,ISS --
genes like me logo Genes that share ontologies with APIP: view

Drugs & Compounds for APIP Gene

(3) Additional Compounds for APIP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-(methylthio)-2,3-Dioxopentyl phosphate
5-Methylthioribulose 1-phosphate
  • 1-Phospho-5-S-methylthioribulose
  • 1-Phosphomethylthioribulose
  • 1PMT-ribulose
  • 5-Methylthio-2-ribulose-1-phosphate
  • 5-Methylthio-5-deoxy-D-ribulose 1-phosphate
86316-83-8
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with APIP: view

Transcripts for APIP Gene

Unigene Clusters for APIP Gene

APAF1 interacting protein:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for APIP Gene

GeneLoc Exon Structure for
APIP
ECgene alternative splicing isoforms for
APIP

Expression for APIP Gene

mRNA expression in normal human tissues for APIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APIP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3) and Salivary gland (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for APIP Gene



SOURCE GeneReport for Unigene cluster for APIP Gene Hs.447794

mRNA Expression by UniProt/SwissProt for APIP Gene

Q96GX9-MTNB_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is expressed at lower levels and detected in heart, brain, pancreas, liver, placenta, skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with APIP: view

Protein tissue co-expression partners for APIP Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for APIP Gene

Orthologs for APIP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APIP 35
  • 88.84 (n)
  • 91.32 (a)
APIP 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APIP 35
  • 92.59 (n)
  • 95.77 (a)
APIP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apip 35
  • 87.69 (n)
  • 94.61 (a)
Apip 16
Apip 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia APIP 35
  • 99.45 (n)
  • 100 (a)
APIP 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APIP 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves APIP 35
  • 80.51 (n)
  • 87.95 (a)
APIP 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APIP 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apip 35
  • 72.39 (n)
  • 82.4 (a)
Str.1776 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6992 35
zebrafish
(Danio rerio)
Actinopterygii apip 35
  • 70.4 (n)
  • 82.51 (a)
apip 36
  • 77 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9020 35
African malaria mosquito
(Anopheles gambiae)
Insecta MTNB_ANOGA 35
  • 60.93 (n)
  • 67.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11134 35
  • 61.82 (n)
  • 70.42 (a)
CG11134 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZC373.5 35
  • 51.27 (n)
  • 44.16 (a)
ZC373.5 36
  • 34 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL126W 35
  • 50.77 (n)
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDE1 35
  • 55.56 (n)
  • 50.72 (a)
MDE1 36
  • 43 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G53850 35
  • 58.17 (n)
  • 56.5 (a)
soybean
(Glycine max)
eudicotyledons Gma.4561 35
rice
(Oryza sativa)
Liliopsida Os.11937 35
Os11g0484000 35
  • 60.33 (n)
  • 57 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.14582 35
corn
(Zea mays)
Liliopsida Zm.2643 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9700 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09264 35
  • 55.92 (n)
  • 54.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC20H4.05c 35
  • 52.43 (n)
  • 45.07 (a)
Species with no ortholog for APIP:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for APIP Gene

ENSEMBL:
Gene Tree for APIP (if available)
TreeFam:
Gene Tree for APIP (if available)

Paralogs for APIP Gene

Pseudogenes.org Pseudogenes for APIP Gene

genes like me logo Genes that share paralogs with APIP: view

No data available for Paralogs for APIP Gene

Variants for APIP Gene

Sequence variations from dbSNP and Humsavar for APIP Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_026575 -
rs17850326 - 34,895,100(+) TTGGA(C/T)GCTCC reference, missense, utr-variant-5-prime
rs1977420 - 34,888,850(+) TATCA(C/T)AAACA reference, missense
rs17850327 - 34,883,425(+) ATTCA(C/T)TGCAT reference, missense
rs891546 -- 34,910,482(-) TGTCT(C/T)CTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APIP Gene

Variant ID Type Subtype PubMed ID
nsv832118 CNV Gain 17160897
nsv832119 CNV Gain 17160897
nsv8807 CNV Gain 18304495
essv21365 CNV CNV 17122850
esv2666133 CNV Deletion 23128226
esv34511 CNV Loss 17911159
essv22260 CNV CNV 17122850
esv2673788 CNV Deletion 23128226

Variation tolerance for APIP Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.36; 97.69% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for APIP Gene

Disorders for APIP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4mb
  • 17q11 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search APIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for APIP

Genetic Association Database (GAD)
APIP
Human Genome Epidemiology (HuGE) Navigator
APIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APIP
genes like me logo Genes that share disorders with APIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APIP Gene

Publications for APIP Gene

  1. Induced inhibition of ischemic/hypoxic injury by APIP, a novel Apaf- 1-interacting protein. (PMID: 15262985) Cho D.-H. … Jung Y.-K. (J. Biol. Chem. 2004) 2 3 4 67
  2. Structural and biochemical basis for the inhibition of cell death by APIP, a methionine salvage enzyme. (PMID: 24367089) Kang W. … Yang J.K. (Proc. Natl. Acad. Sci. U.S.A. 2014) 2 3
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for APIP Gene

Sources for APIP Gene

Content