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:0005764	Component	Lysosome	IDA	22115783
GO:0005765	Component	Lysosomal membrane	IC	22115783
GO:0005768	Component	Endosome	IDA	22115783
GO:0006915	Process	Apoptotic process	IEA
GO:0007032	Process	Endosome organization	IMP	22115783
GO:0010008	Component	Endosome membrane	IC	22115783
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	22115783
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	21873635
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
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

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

Causal
Disease term	Disease name	dbSNP ID	References
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	21397856

Associations from Text Mining
Disease Name	Relationship Type	References
Blast Crisis	Associate	6586202
Breast Neoplasms	Associate	22433433
Cardiomyopathy Dilated	Associate	36056063
Dementia	Associate	28600779
Intellectual Disability	Associate	28600779
Neoplasms	Associate	22433433
Osteosarcoma	Inhibit	40593006