APIP APAF1 interacting protein [Homo sapiens (human)] - Gene

Summary

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, Dec 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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

SHGC-82079 (e-PCR)
- UniSTS:103009

D15S1477 (e-PCR)
- UniSTS:474482

D1S1425 (e-PCR)
- UniSTS:149621

WI-20739 (e-PCR)
- UniSTS:73359

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 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

EC 4.2.1.109

XP_011518456.1

EC 4.2.1.109

XP_016873364.1

EC 4.2.1.109

XP_054225020.1

EC 4.2.1.109

XP_054225021.1

EC 4.2.1.109

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)

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

34882295..34916379 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

35020271..35054314 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DY17
XM_054369046.1 → XP_054225021.1 methylthioribulose-1-phosphate dehydratase isoform X2

UniProtKB/TrEMBL

S4R3D6