PLEKHF1 (pleckstrin homology and FYVE domain containing 1)

Gene

• Entrez ID: 79156
• Gene name: Pleckstrin homology and FYVE domain containing 1
• Gene symbol: PLEKHF1
• Synonyms (NCBI Gene): APPD, LAPF, PHAFIN1, ZFYVE15
• Chromosome: 19
• Chromosome location: 19q12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018786	hsa-miR-335-5p	Microarray	18185580
MIRT043496	hsa-miR-331-3p	CLASH	23622248
MIRT1241655	hsa-miR-1224-5p	CLIP-seq
MIRT1241656	hsa-miR-3160-3p	CLIP-seq
MIRT1241657	hsa-miR-4436a	CLIP-seq
MIRT1241658	hsa-miR-4700-3p	CLIP-seq
MIRT1241659	hsa-miR-4751	CLIP-seq
MIRT1241660	hsa-miR-548an	CLIP-seq
MIRT1241661	hsa-miR-639	CLIP-seq
MIRT1552355	hsa-miR-4633-3p	CLIP-seq
MIRT2071129	hsa-miR-1343	CLIP-seq
MIRT2071130	hsa-miR-2115	CLIP-seq
MIRT2071131	hsa-miR-378g	CLIP-seq
MIRT2071132	hsa-miR-4459	CLIP-seq
MIRT2071133	hsa-miR-4695-5p	CLIP-seq
MIRT2071134	hsa-miR-665	CLIP-seq
MIRT2298339	hsa-miR-3664-3p	CLIP-seq
MIRT2298340	hsa-miR-4267	CLIP-seq
MIRT2298341	hsa-miR-4433	CLIP-seq
MIRT2071132	hsa-miR-4459	CLIP-seq
MIRT2298342	hsa-miR-4529-5p	CLIP-seq
MIRT2071133	hsa-miR-4695-5p	CLIP-seq
MIRT2298343	hsa-miR-4768-3p	CLIP-seq
MIRT2298344	hsa-miR-516b	CLIP-seq
MIRT2298345	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	22115783
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IC	22115783
GO:0005768	Component	Endosome	IDA	22115783
GO:0005769	Component	Early endosome	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007032	Process	Endosome organization	IMP	22115783
GO:0008270	Function	Zinc ion binding	IEA
GO:0008333	Process	Endosome to lysosome transport	IBA
GO:0010008	Component	Endosome membrane	IC	22115783
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	22115783
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0010508	Process	Positive regulation of autophagy	IDA	22115783
GO:0016050	Process	Vesicle organization	IMP	22115783
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	22115783
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	22115783
GO:0072659	Process	Protein localization to plasma membrane	IMP	22115783

Other IDs

• MIM: 615200
• HGNC: 20764
• e!Ensembl: ENSG00000166289

Protein

• UniProt ID: Q96S99
• Protein name: Pleckstrin homology domain-containing family F member 1 (PH domain-containing family F member 1) (Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains) (Apoptosis-inducing protein) (PH and FYVE domain-containing protein 1) (Phafin
• Protein function: May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-indep
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	36 → 131	PH domain	Domain
  PF01363	FYVE	147 → 213	FYVE zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. Weakly expressed in brain, thymus, spleen, kidney, liver, small intestine, placenta and lung. {ECO:0000269|PubMed:16188880}.
• Sequence:

  MVDHLANTEINSQRIAAVESCFGASGQPLALPGRVLLGEGVLTKECRKKAKPRIFFLFND
  ILVYGSIVLNKRKYRSQHIIPLEEVTLELLPETLQAKNRWMIKTAKKSFVVSAASATERQ
  EWISHIEECVRRQLRATGRPPSTEHAAPWIPDKATDICMRCTQTRFSALTRRHHCRKCGF
  VVCAECSRQRFLLPRLSPKPVRVCSLCYRELAAQQRQEEAEEQGAGSPGQPAHLARPICG
  ASSGDDDDSDEDKEGSRDGDWPSSVEFYASGVAWSAFHS

• Sequence length: 279

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22502656		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	6586202	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22433433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22502656		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36056063	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31101513		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28600779	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31101513		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28600779	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20210246		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11535706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22502656		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14691460		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25816208		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40593006	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20210246		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11535706		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31101513		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12608883		★☆☆☆☆ Found in Text Mining only