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Q96S99

- PKHF1_HUMAN

UniProt

Q96S99 - PKHF1_HUMAN

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
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 3 (03 Oct 2006)
      Previous versions | rss
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    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

    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-SubCell
    5. perinuclear region of cytoplasm Source: UniProtKB-SubCell

    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

    ArrayExpressiQ96S99.
    BgeeiQ96S99.
    CleanExiHS_PLEKHF1.
    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.
    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.

    Q96S99-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVDHLANTEI NSQRIAAVES CFGASGQPLA LPGRVLLGEG VLTKECRKKA    50
    KPRIFFLFND ILVYGSIVLN KRKYRSQHII PLEEVTLELL PETLQAKNRW 100
    MIKTAKKSFV VSAASATERQ EWISHIEECV RRQLRATGRP PSTEHAAPWI 150
    PDKATDICMR CTQTRFSALT RRHHCRKCGF VVCAECSRQR FLLPRLSPKP 200
    VRVCSLCYRE LAAQQRQEEA EEQGAGSPGQ PAHLARPICG ASSGDDDDSD 250
    EDKEGSRDGD WPSSVEFYAS GVAWSAFHS 279
    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.
    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

    ArrayExpressi Q96S99.
    Bgeei Q96S99.
    CleanExi HS_PLEKHF1.
    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

    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 1, 2014
    This is version 107 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