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Q96S99 (PKHF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pleckstrin homology domain-containing family F member 1

Short name=PH domain-containing family F member 1
Alternative name(s):
Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains
Short name=Apoptosis-inducing protein
PH and FYVE domain-containing protein 1
Phafin-1
Zinc finger FYVE domain-containing protein 15
Gene names
Name:PLEKHF1
Synonyms:APPD, LAPF, ZFYVE15
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length279 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8. Ref.1

Subcellular location

Nucleus. Cytoplasmperinuclear region. Lysosome. Note: Translocates to lysosome during apoptosis. Ref.1

Tissue specificity

Highly expressed in heart and skeletal muscle. Weakly expressed in brain, thymus, spleen, kidney, liver, small intestine, placenta and lung. Ref.1

Domain

PH and FYVE-type zinc finger domains are required for lysosomal location.

Sequence similarities

Contains 1 FYVE-type zinc finger.

Contains 1 PH domain.

Ontologies

Keywords
   Biological processApoptosis
   Cellular componentCytoplasm
Lysosome
Nucleus
   DomainZinc-finger
   LigandMetal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Inferred from electronic annotation. Source: UniProtKB-KW

endosome organization

Inferred from mutant phenotype PubMed 22115783. Source: BHF-UCL

positive regulation of autophagy

Inferred from direct assay PubMed 22115783. Source: BHF-UCL

positive regulation of intrinsic apoptotic signaling pathway

Inferred from electronic annotation. Source: Ensembl

protein localization to plasma membrane

Inferred from mutant phenotype PubMed 22115783. Source: BHF-UCL

vesicle organization

Inferred from mutant phenotype PubMed 22115783. Source: BHF-UCL

   Cellular_componentendosome membrane

Inferred by curator PubMed 22115783. Source: BHF-UCL

lysosomal membrane

Inferred by curator PubMed 22115783. Source: BHF-UCL

lysosome

Inferred from direct assay PubMed 22115783. Source: BHF-UCL

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

phosphatidylinositol-3-phosphate binding

Inferred from direct assay PubMed 22115783. Source: BHF-UCL

phosphatidylinositol-4-phosphate binding

Inferred from direct assay PubMed 22115783. Source: BHF-UCL

phosphatidylinositol-5-phosphate binding

Inferred from direct assay PubMed 22115783. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 279279Pleckstrin homology domain-containing family F member 1
PRO_0000251597

Regions

Domain35 – 13197PH
Zinc finger152 – 21261FYVE-type

Experimental info

Sequence conflict551F → L in AAL30773. Ref.2
Sequence conflict551F → L in BAB55349. Ref.3
Sequence conflict1351R → K in AAK67626. Ref.1
Sequence conflict2291G → R in AAK67626. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96S99 [UniParc].

Last modified October 3, 2006. Version 3.
Checksum: ED2ADEBDE6BCF3BF

FASTA27931,195
        10         20         30         40         50         60 
MVDHLANTEI NSQRIAAVES CFGASGQPLA LPGRVLLGEG VLTKECRKKA KPRIFFLFND 

        70         80         90        100        110        120 
ILVYGSIVLN KRKYRSQHII PLEEVTLELL PETLQAKNRW MIKTAKKSFV VSAASATERQ 

       130        140        150        160        170        180 
EWISHIEECV RRQLRATGRP PSTEHAAPWI PDKATDICMR CTQTRFSALT RRHHCRKCGF 

       190        200        210        220        230        240 
VVCAECSRQR FLLPRLSPKP VRVCSLCYRE LAAQQRQEEA EEQGAGSPGQ PAHLARPICG 

       250        260        270 
ASSGDDDDSD EDKEGSRDGD WPSSVEFYAS GVAWSAFHS 

« Hide

References

« Hide 'large scale' references
[1]"The lysosome-associated apoptosis-inducing protein containing the pleckstrin homology (PH) and FYVE domains (LAPF), representative of a novel family of PH and FYVE domain-containing proteins, induces caspase-independent apoptosis via the lysosomal-mitochondrial pathway."
Chen W., Li N., Chen T., Han Y., Li C., Wang Y., He W., Zhang L., Wan T., Cao X.
J. Biol. Chem. 280:40985-40995(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]"Phafin 1, PH and FYVE domain-containing protein 1."
Shi H., Hong W.
Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY037145 mRNA. Translation: AAK67626.2.
AF434818 mRNA. Translation: AAL30773.1.
AK027758 mRNA. Translation: BAB55349.1.
BC002744 mRNA. Translation: AAH02744.1.
RefSeqNP_077286.3. NM_024310.4.
UniGeneHs.466383.

3D structure databases

ProteinModelPortalQ96S99.
SMRQ96S99. Positions 3-213.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122574. 3 interactions.
IntActQ96S99. 2 interactions.
MINTMINT-1450577.
STRING9606.ENSP00000299373.

PTM databases

PhosphoSiteQ96S99.

Polymorphism databases

DMDM115502559.

Proteomic databases

PaxDbQ96S99.
PRIDEQ96S99.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000436066; ENSP00000389787; ENSG00000166289.
ENST00000592810; ENSP00000466292; ENSG00000166289.
GeneID79156.
KEGGhsa:79156.
UCSCuc002nsh.4. human.

Organism-specific databases

CTD79156.
GeneCardsGC19P030155.
HGNCHGNC:20764. PLEKHF1.
HPAHPA025925.
MIM615200. gene.
neXtProtNX_Q96S99.
PharmGKBPA134928547.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308864.
HOGENOMHOG000231519.
HOVERGENHBG059973.
InParanoidQ96S99.
OMAVCSLCYR.
OrthoDBEOG7PK90K.
PhylomeDBQ96S99.
TreeFamTF315235.

Gene expression databases

ArrayExpressQ96S99.
BgeeQ96S99.
CleanExHS_PLEKHF1.
GenevestigatorQ96S99.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
3.30.40.10. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF01363. FYVE. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTSM00064. FYVE. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMSSF57903. SSF57903. 1 hit.
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79156.
NextBio68083.
PROQ96S99.
SOURCESearch...

Entry information

Entry namePKHF1_HUMAN
AccessionPrimary (citable) accession number: Q96S99
Secondary accession number(s): Q96K11, Q9BUB9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: April 16, 2014
This is version 102 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM