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    APIP APAF1 interacting protein [ Homo sapiens (human) ]

    Gene ID: 51074, updated on 2-Nov-2024

    Summary

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    Official Symbol
    APIPprovided by HGNC
    Official Full Name
    APAF1 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17581
    See related
    Ensembl:ENSG00000149089 MIM:612491; AllianceGenome:HGNC:17581
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APIP2; CGI29; hAPIP; CGI-29; MMRP19
    Summary
    Enables identical protein binding activity; methylthioribulose 1-phosphate dehydratase activity; and zinc ion binding activity. Involved in several processes, including L-methionine salvage from methylthioadenosine; protein homotetramerization; and pyroptotic inflammatory response. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 15.7), adrenal (RPKM 13.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See APIP in Genome Data Viewer
    Location:
    11p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (34882295..34916379, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (35020271..35054314, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34903842..34937926, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723568 Neighboring gene uncharacterized LOC105376625 Neighboring gene uncharacterized LOC105376624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4608 Neighboring gene pyruvate dehydrogenase complex component X Neighboring gene microRNA 1343 Neighboring gene uncharacterized LOC105376626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4609 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:35051560-35052759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4612

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Crystallization and preliminary X-ray crystallographic analysis of human Apaf-1-interacting protein. Kang W, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2012 Dec 1. PMID 23192037, Free PMC Article
    2. APIP regulated by YAP propels methionine cycle and metastasis in head and neck squamous cell carcinoma. Li J, et al. Cancer Lett, 2024 Apr 28. PMID 38423248
    3. Down-regulated expression of apoptosis-associated genes APIP and UACA in non-small cell lung carcinoma. Moravcikova E, et al. Int J Oncol, 2012 Jun. PMID 22407486
    4. Functional identification of APIP as human mtnB, a key enzyme in the methionine salvage pathway. Mary C, et al. PLoS One, 2012. PMID 23285211, Free PMC Article
    5. Structural and biochemical basis for the inhibition of cell death by APIP, a methionine salvage enzyme. Kang W, et al. Proc Natl Acad Sci U S A, 2014 Jan 7. PMID 24367089, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. APIP regulated by YAP propels methionine cycle and metastasis in head and neck squamous cell carcinoma.
      Title: APIP regulated by YAP propels methionine cycle and metastasis in head and neck squamous cell carcinoma.
    2. APIP is crucial for cardioprotection against myocardial infarction by virtue of binding to and stabilizing ADORA2B, thereby dampening ischemic heart injury.
      Title: Cardioprotective role of APIP in myocardial infarction through ADORA2B.
    3. Results suggest that APIP stimulates cell proliferation via ERBB3, acting in conjunction with ERBB2, in gastric cancer cells.
      Title: APIP, an ERBB3-binding partner, stimulates erbB2-3 heterodimer formation to promote tumorigenesis.
    4. APIP/MtnB functions as a cell death inhibitor independently of its MtnB enzyme activity for apoptosis induced by either hypoxia or etoposide, but dependently for caspase-1-induced pyroptosis
      Title: Structural and biochemical basis for the inhibition of cell death by APIP, a methionine salvage enzyme.
    5. these results confirm the involvement of APIP in the methionine salvage pathway, which plays a key role in many biological functions like cancer, apoptosis, microbial proliferation and inflammation.
      Title: Functional identification of APIP as human mtnB, a key enzyme in the methionine salvage pathway.
    6. human APIP was overproduced in Escherichia coli, purified and crystallized. An X-ray diffraction data set was collected to 2.40 A resolution
      Title: Crystallization and preliminary X-ray crystallographic analysis of human Apaf-1-interacting protein.
    7. A polymorphism associated with reduced expression of a putative methionine salvage pathway dehydratase, apoptotic protease activating factor 1 (APAF1)-interacting protein (APIP), was associated with increased caspase-1-mediated cell death in Salmonella.
      Title: Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death.
    8. The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells.
      Title: Down-regulated expression of apoptosis-associated genes APIP and UACA in non-small cell lung carcinoma.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    10. APIP functions to inhibit muscle ischemic damage by binding to Apaf-1 in the Apaf-1/caspase-9 apoptosis pathway.
      Title: Induced inhibition of ischemic/hypoxic injury by APIP, a novel Apaf-1-interacting protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • dJ179L10.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables methylthioribulose 1-phosphate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylthioribulose 1-phosphate dehydratase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-methionine salvage from S-adenosylmethionine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyroptotic inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    methylthioribulose-1-phosphate dehydratase
    Names
    MTRu-1-P dehydratase
    probable methylthioribulose-1-phosphate dehydratase
    NP_057041.2
    XP_011518456.1
    XP_016873364.1
    XP_054225020.1
    XP_054225021.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015957.4 → NP_057041.2  methylthioribulose-1-phosphate dehydratase

      See identical proteins and their annotated locations for NP_057041.2

      Status: VALIDATED

      Source sequence(s)
      AC107928, AF088034, BC009077, BP200131
      Consensus CDS
      CCDS7895.1
      UniProtKB/Swiss-Prot
      A8K9D3, Q6PJX6, Q8WVU2, Q96GX9, Q96HK2, Q9Y318
      UniProtKB/TrEMBL
      B4DY17
      Related
      ENSP00000379133.3, ENST00000395787.4
      Conserved Domains (1) summary
      TIGR03328
      Location:28 → 227
      salvage_mtnB; methylthioribulose-1-phosphate dehydratase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      34882295..34916379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520154.4 → XP_011518456.1  methylthioribulose-1-phosphate dehydratase isoform X1

      UniProtKB/TrEMBL
      B4DY17
      Conserved Domains (1) summary
      TIGR03328
      Location:45 → 244
      salvage_mtnB; methylthioribulose-1-phosphate dehydratase

    2. XM_017017875.3 → XP_016873364.1  methylthioribulose-1-phosphate dehydratase isoform X2

      UniProtKB/TrEMBL
      S4R3D6
      Related
      ENSP00000474191.1, ENST00000532428.6
      Conserved Domains (1) summary
      cl00214
      Location:1 → 155
      Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      35020271..35054314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369045.1 → XP_054225020.1  methylthioribulose-1-phosphate dehydratase isoform X1

    2. XM_054369046.1 → XP_054225021.1  methylthioribulose-1-phosphate dehydratase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GX9.1 GenPept UniProtKB/Swiss-Prot:Q96GX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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