Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51074
Gene name	APAF1 interacting protein
Gene symbol	APIP
Synonyms (NCBI Gene)	APIP2CGI-29CGI29MMRP19hAPIP
Chromosome	11
Chromosome location	11p13
Summary	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]

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT543859	hsa-miR-548an	PAR-CLIP	21572407
MIRT543858	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT543857	hsa-miR-4484	PAR-CLIP	21572407
MIRT543856	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT543855	hsa-miR-3163	PAR-CLIP	21572407
MIRT543854	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT543852	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543853	hsa-miR-146a-3p	PAR-CLIP	21572407
MIRT543851	hsa-miR-301a-5p	PAR-CLIP	21572407
MIRT543850	hsa-miR-301b-5p	PAR-CLIP	21572407
MIRT543849	hsa-miR-3921	PAR-CLIP	21572407
MIRT543848	hsa-miR-4653-5p	PAR-CLIP	21572407
MIRT543847	hsa-miR-4251	PAR-CLIP	21572407
MIRT543846	hsa-miR-4329	PAR-CLIP	21572407
MIRT543845	hsa-miR-6761-5p	PAR-CLIP	21572407
MIRT543844	hsa-miR-4693-3p	PAR-CLIP	21572407
MIRT543843	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543842	hsa-miR-3191-5p	PAR-CLIP	21572407
MIRT543859	hsa-miR-548an	PAR-CLIP	21572407
MIRT543858	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT543857	hsa-miR-4484	PAR-CLIP	21572407
MIRT543856	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT543855	hsa-miR-3163	PAR-CLIP	21572407
MIRT543854	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT543852	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543853	hsa-miR-146a-3p	PAR-CLIP	21572407
MIRT543851	hsa-miR-301a-5p	PAR-CLIP	21572407
MIRT543850	hsa-miR-301b-5p	PAR-CLIP	21572407
MIRT543849	hsa-miR-3921	PAR-CLIP	21572407
MIRT543848	hsa-miR-4653-5p	PAR-CLIP	21572407
MIRT543847	hsa-miR-4251	PAR-CLIP	21572407
MIRT543846	hsa-miR-4329	PAR-CLIP	21572407
MIRT543845	hsa-miR-6761-5p	PAR-CLIP	21572407
MIRT543844	hsa-miR-4693-3p	PAR-CLIP	21572407
MIRT543843	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543842	hsa-miR-3191-5p	PAR-CLIP	21572407
MIRT789500	hsa-miR-3127-5p	CLIP-seq
MIRT789501	hsa-miR-3591-5p	CLIP-seq
MIRT789502	hsa-miR-3675-3p	CLIP-seq
MIRT789503	hsa-miR-3677-5p	CLIP-seq
MIRT789504	hsa-miR-3688-5p	CLIP-seq
MIRT789505	hsa-miR-410	CLIP-seq
MIRT789506	hsa-miR-4460	CLIP-seq
MIRT789507	hsa-miR-4727-3p	CLIP-seq
MIRT789508	hsa-miR-4742-3p	CLIP-seq
MIRT789509	hsa-miR-591	CLIP-seq
MIRT1932889	hsa-miR-1226	CLIP-seq
MIRT1932890	hsa-miR-338-3p	CLIP-seq
MIRT1932891	hsa-miR-3692	CLIP-seq
MIRT1932892	hsa-miR-3915	CLIP-seq
MIRT1932893	hsa-miR-3928	CLIP-seq
MIRT789505	hsa-miR-410	CLIP-seq
MIRT1932894	hsa-miR-4733-3p	CLIP-seq
MIRT1932895	hsa-miR-4795-3p	CLIP-seq
MIRT1932896	hsa-miR-590-3p	CLIP-seq
MIRT1932897	hsa-miR-634	CLIP-seq
MIRT2173052	hsa-miR-3123	CLIP-seq
MIRT789501	hsa-miR-3591-5p	CLIP-seq
MIRT789502	hsa-miR-3675-3p	CLIP-seq
MIRT789503	hsa-miR-3677-5p	CLIP-seq
MIRT789504	hsa-miR-3688-5p	CLIP-seq
MIRT1932891	hsa-miR-3692	CLIP-seq
MIRT789505	hsa-miR-410	CLIP-seq
MIRT2173053	hsa-miR-4282	CLIP-seq
MIRT789506	hsa-miR-4460	CLIP-seq
MIRT2173054	hsa-miR-4470	CLIP-seq
MIRT789507	hsa-miR-4727-3p	CLIP-seq
MIRT789508	hsa-miR-4742-3p	CLIP-seq
MIRT789509	hsa-miR-591	CLIP-seq
MIRT2476284	hsa-miR-4729	CLIP-seq
MIRT2476285	hsa-miR-579	CLIP-seq
MIRT2476284	hsa-miR-4729	CLIP-seq
MIRT2476285	hsa-miR-579	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23285211
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008270	Function	Zinc ion binding	IDA	24367089
GO:0008270	Function	Zinc ion binding	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019509	Process	L-methionine salvage from methylthioadenosine	IBA
GO:0019509	Process	L-methionine salvage from methylthioadenosine	IEA
GO:0019509	Process	L-methionine salvage from methylthioadenosine	IMP	22837397, 23285211
GO:0042802	Function	Identical protein binding	IPI	16189514, 19060904, 25416956, 31515488, 32296183
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	22837397, 24367089
GO:0046570	Function	Methylthioribulose 1-phosphate dehydratase activity	IBA
GO:0046570	Function	Methylthioribulose 1-phosphate dehydratase activity	IDA	24367089
GO:0046570	Function	Methylthioribulose 1-phosphate dehydratase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	24367089
GO:0070269	Process	Pyroptotic inflammatory response	IMP	24367089
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IEA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	ISS

MIM	HGNC	e!Ensembl
612491	17581	ENSG00000149089

Q96GX9

Protein name

Methylthioribulose-1-phosphate dehydratase (MTRu-1-P dehydratase) (EC 4.2.1.109) (APAF1-interacting protein) (hAPIP)

Protein 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

PDB

4M6R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00596	Aldolase_II	27 → 222	Class II Aldolase and Adducin N-terminal domain	Domain

Tissue specificity

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. {ECO:0000269|PubMed:15262985, ECO:0000269|PubMed:23285211}.

Sequence

MSGCDAREGDCCSRRCGAQDKEHPRYLIPELCKQFYHLGWVTGTGGGISLKHGDEIYIAP
SGVQKERIQPEDMFVCDINEKDISGPSPSKKLKKSQCTPLFMNAYTMRGAGAVIHTHSKA
AVMATLLFPGREFKITHQEMIKGIKKCTSGGYYRYDDMLVVPIIENTPEEKDLKDRMAHA
MNEYPDSCAVLVRRHGVYVWGETWEKAKTMCECYDYLFDIAVSMKKVGLDPSQLPVGENG
IV

Sequence length

242

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Metabolic pathways		Formation of apoptosome Regulation of the apoptosome activity

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE ASSOCIATED WITH CYSTIC FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23637631, 25576211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25576211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25576211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31263105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	21602797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21602797, 36921087	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	31263105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24367089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	21602797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26417704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25576211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26942872, 28123544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23637631, 25576211		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31263105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26942872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22407486, 25576211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23637631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26942872, 28123544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36529823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

APIP (APAF1 interacting protein)