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Q96S99

- PKHF1_HUMAN

UniProt

Q96S99 - PKHF1_HUMAN

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Protein

Pleckstrin homology domain-containing family F member 1

Gene

PLEKHF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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 PDCD8.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri152 – 21261FYVE-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. phosphatidylinositol-3-phosphate binding Source: BHF-UCL
  3. phosphatidylinositol-4-phosphate binding Source: BHF-UCL
  4. phosphatidylinositol-5-phosphate binding Source: BHF-UCL

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. endosome organization Source: BHF-UCL
  3. positive regulation of autophagy Source: BHF-UCL
  4. positive regulation of intrinsic apoptotic signaling pathway Source: Ensembl
  5. protein localization to plasma membrane Source: BHF-UCL
  6. vesicle organization Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:PLEKHF1
Synonyms:APPD, LAPF, ZFYVE15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:20764. PLEKHF1.

Subcellular locationi

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

GO - Cellular componenti

  1. endosome membrane Source: BHF-UCL
  2. lysosomal membrane Source: BHF-UCL
  3. lysosome Source: BHF-UCL
  4. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Lysosome, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134928547.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 279279Pleckstrin homology domain-containing family F member 1PRO_0000251597Add
BLAST

Proteomic databases

MaxQBiQ96S99.
PaxDbiQ96S99.
PRIDEiQ96S99.

PTM databases

PhosphoSiteiQ96S99.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96S99.
CleanExiHS_PLEKHF1.
ExpressionAtlasiQ96S99. baseline.
GenevestigatoriQ96S99.

Organism-specific databases

HPAiHPA025925.

Interactioni

Protein-protein interaction databases

BioGridi122574. 3 interactions.
IntActiQ96S99. 2 interactions.
MINTiMINT-1450577.
STRINGi9606.ENSP00000299373.

Structurei

3D structure databases

ProteinModelPortaliQ96S99.
SMRiQ96S99. Positions 29-141, 149-211.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 13197PHPROSITE-ProRule annotationAdd
BLAST

Domaini

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

Sequence similaritiesi

Contains 1 FYVE-type zinc finger.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri152 – 21261FYVE-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG308864.
GeneTreeiENSGT00750000117280.
HOGENOMiHOG000231519.
HOVERGENiHBG059973.
InParanoidiQ96S99.
OMAiATERQEW.
OrthoDBiEOG7PK90K.
PhylomeDBiQ96S99.
TreeFamiTF315235.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.30.40.10. 1 hit.
InterProiIPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF01363. FYVE. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00064. FYVE. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96S99 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVDHLANTEI NSQRIAAVES CFGASGQPLA LPGRVLLGEG VLTKECRKKA
60 70 80 90 100
KPRIFFLFND ILVYGSIVLN KRKYRSQHII PLEEVTLELL PETLQAKNRW
110 120 130 140 150
MIKTAKKSFV VSAASATERQ EWISHIEECV RRQLRATGRP PSTEHAAPWI
160 170 180 190 200
PDKATDICMR CTQTRFSALT RRHHCRKCGF VVCAECSRQR FLLPRLSPKP
210 220 230 240 250
VRVCSLCYRE LAAQQRQEEA EEQGAGSPGQ PAHLARPICG ASSGDDDDSD
260 270
EDKEGSRDGD WPSSVEFYAS GVAWSAFHS
Length:279
Mass (Da):31,195
Last modified:October 3, 2006 - v3
Checksum:iED2ADEBDE6BCF3BF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti55 – 551F → L in AAL30773. 1 PublicationCurated
Sequence conflicti55 – 551F → L in BAB55349. (PubMed:14702039)Curated
Sequence conflicti135 – 1351R → K in AAK67626. (PubMed:16188880)Curated
Sequence conflicti229 – 2291G → R in AAK67626. (PubMed:16188880)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY037145 mRNA. Translation: AAK67626.2.
AF434818 mRNA. Translation: AAL30773.1.
AK027758 mRNA. Translation: BAB55349.1.
BC002744 mRNA. Translation: AAH02744.1.
CCDSiCCDS12417.1.
RefSeqiNP_077286.3. NM_024310.4.
XP_006723441.1. XM_006723378.1.
UniGeneiHs.466383.

Genome annotation databases

EnsembliENST00000436066; ENSP00000389787; ENSG00000166289.
ENST00000592810; ENSP00000466292; ENSG00000166289.
GeneIDi79156.
KEGGihsa:79156.
UCSCiuc002nsh.4. human.

Polymorphism databases

DMDMi115502559.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY037145 mRNA. Translation: AAK67626.2 .
AF434818 mRNA. Translation: AAL30773.1 .
AK027758 mRNA. Translation: BAB55349.1 .
BC002744 mRNA. Translation: AAH02744.1 .
CCDSi CCDS12417.1.
RefSeqi NP_077286.3. NM_024310.4.
XP_006723441.1. XM_006723378.1.
UniGenei Hs.466383.

3D structure databases

ProteinModelPortali Q96S99.
SMRi Q96S99. Positions 29-141, 149-211.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122574. 3 interactions.
IntActi Q96S99. 2 interactions.
MINTi MINT-1450577.
STRINGi 9606.ENSP00000299373.

PTM databases

PhosphoSitei Q96S99.

Polymorphism databases

DMDMi 115502559.

Proteomic databases

MaxQBi Q96S99.
PaxDbi Q96S99.
PRIDEi Q96S99.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000436066 ; ENSP00000389787 ; ENSG00000166289 .
ENST00000592810 ; ENSP00000466292 ; ENSG00000166289 .
GeneIDi 79156.
KEGGi hsa:79156.
UCSCi uc002nsh.4. human.

Organism-specific databases

CTDi 79156.
GeneCardsi GC19P030155.
HGNCi HGNC:20764. PLEKHF1.
HPAi HPA025925.
MIMi 615200. gene.
neXtProti NX_Q96S99.
PharmGKBi PA134928547.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308864.
GeneTreei ENSGT00750000117280.
HOGENOMi HOG000231519.
HOVERGENi HBG059973.
InParanoidi Q96S99.
OMAi ATERQEW.
OrthoDBi EOG7PK90K.
PhylomeDBi Q96S99.
TreeFami TF315235.

Miscellaneous databases

GenomeRNAii 79156.
NextBioi 68083.
PROi Q96S99.
SOURCEi Search...

Gene expression databases

Bgeei Q96S99.
CleanExi HS_PLEKHF1.
ExpressionAtlasi Q96S99. baseline.
Genevestigatori Q96S99.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
3.30.40.10. 1 hit.
InterProi IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF01363. FYVE. 1 hit.
PF00169. PH. 1 hit.
[Graphical view ]
SMARTi SM00064. FYVE. 1 hit.
SM00233. PH. 1 hit.
[Graphical view ]
SUPFAMi SSF57903. SSF57903. 1 hit.
PROSITEi PS50003. PH_DOMAIN. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiPKHF1_HUMAN
AccessioniPrimary (citable) accession number: Q96S99
Secondary accession number(s): Q96K11, Q9BUB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: October 29, 2014
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3