PKHF1_MOUSE
ID PKHF1_MOUSE Reviewed; 279 AA.
AC Q3TB82; Q99M16;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Pleckstrin homology domain-containing family F member 1;
DE Short=PH domain-containing family F member 1;
DE AltName: Full=Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains;
GN Name=Plekhf1; Synonyms=Lapf;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Kidney;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=16188880; DOI=10.1074/jbc.m502190200;
RA Chen W., Li N., Chen T., Han Y., Li C., Wang Y., He W., Zhang L., Wan T.,
RA Cao X.;
RT "The lysosome-associated apoptosis-inducing protein containing the
RT pleckstrin homology (PH) and FYVE domains (LAPF), representative of a novel
RT family of PH and FYVE domain-containing proteins, induces caspase-
RT independent apoptosis via the lysosomal-mitochondrial pathway.";
RL J. Biol. Chem. 280:40985-40995(2005).
CC -!- FUNCTION: May induce apoptosis through the lysosomal-mitochondrial
CC pathway. Translocates to the lysosome initiating the permeabilization
CC of lysosomal membrane (LMP) and resulting in the release of CTSD and
CC CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by
CC altering mitochondrial membrane permeabilization (MMP) resulting in the
CC release of PDCD8 (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16188880}. Cytoplasm,
CC perinuclear region {ECO:0000269|PubMed:16188880}. Lysosome
CC {ECO:0000269|PubMed:16188880}. Note=Translocates to lysosome during
CC apoptosis.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16188880}.
CC -!- DOMAIN: PH and FYVE-type zinc finger domains are required for lysosomal
CC location. {ECO:0000250}.
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DR EMBL; AK143976; BAE25641.1; -; mRNA.
DR EMBL; AK157990; BAE34303.1; -; mRNA.
DR EMBL; AK170283; BAE41685.1; -; mRNA.
DR EMBL; AK171398; BAE42432.1; -; mRNA.
DR EMBL; BC002120; AAH02120.1; -; mRNA.
DR CCDS; CCDS21158.1; -.
DR RefSeq; NP_077724.2; NM_024413.2.
DR AlphaFoldDB; Q3TB82; -.
DR SMR; Q3TB82; -.
DR STRING; 10090.ENSMUSP00000096113; -.
DR iPTMnet; Q3TB82; -.
DR PhosphoSitePlus; Q3TB82; -.
DR EPD; Q3TB82; -.
DR MaxQB; Q3TB82; -.
DR PaxDb; Q3TB82; -.
DR PeptideAtlas; Q3TB82; -.
DR PRIDE; Q3TB82; -.
DR ProteomicsDB; 289654; -.
DR Antibodypedia; 15545; 130 antibodies from 22 providers.
DR DNASU; 72287; -.
DR Ensembl; ENSMUST00000098513; ENSMUSP00000096113; ENSMUSG00000074170.
DR GeneID; 72287; -.
DR KEGG; mmu:72287; -.
DR UCSC; uc009gku.2; mouse.
DR CTD; 79156; -.
DR MGI; MGI:1919537; Plekhf1.
DR VEuPathDB; HostDB:ENSMUSG00000074170; -.
DR eggNOG; KOG1729; Eukaryota.
DR GeneTree; ENSGT00940000160728; -.
DR HOGENOM; CLU_064864_2_0_1; -.
DR InParanoid; Q3TB82; -.
DR OMA; VSWSAFH; -.
DR OrthoDB; 1237900at2759; -.
DR PhylomeDB; Q3TB82; -.
DR TreeFam; TF315235; -.
DR BioGRID-ORCS; 72287; 2 hits in 70 CRISPR screens.
DR ChiTaRS; Plekhf1; mouse.
DR PRO; PR:Q3TB82; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q3TB82; protein.
DR Bgee; ENSMUSG00000074170; Expressed in small intestine Peyer's patch and 197 other tissues.
DR Genevisible; Q3TB82; MM.
DR GO; GO:0005769; C:early endosome; IBA:GO_Central.
DR GO; GO:0005768; C:endosome; ISO:MGI.
DR GO; GO:0005764; C:lysosome; IDA:MGI.
DR GO; GO:0005739; C:mitochondrion; IEA:GOC.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0035091; F:phosphatidylinositol binding; IBA:GO_Central.
DR GO; GO:0032266; F:phosphatidylinositol-3-phosphate binding; ISO:MGI.
DR GO; GO:0070273; F:phosphatidylinositol-4-phosphate binding; ISO:MGI.
DR GO; GO:0010314; F:phosphatidylinositol-5-phosphate binding; ISO:MGI.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR GO; GO:0007032; P:endosome organization; ISO:MGI.
DR GO; GO:0008333; P:endosome to lysosome transport; IBA:GO_Central.
DR GO; GO:0010508; P:positive regulation of autophagy; ISO:MGI.
DR GO; GO:2001244; P:positive regulation of intrinsic apoptotic signaling pathway; IDA:MGI.
DR GO; GO:0072659; P:protein localization to plasma membrane; ISO:MGI.
DR GO; GO:0046902; P:regulation of mitochondrial membrane permeability; ISO:MGI.
DR GO; GO:0016050; P:vesicle organization; ISO:MGI.
DR CDD; cd15754; FYVE_PKHF1; 1.
DR CDD; cd01218; PH_Phafin2-like; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR037871; PH_Phafin.
DR InterPro; IPR042762; PKHF1_FYVE.
DR InterPro; IPR000306; Znf_FYVE.
DR InterPro; IPR017455; Znf_FYVE-rel.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR Pfam; PF01363; FYVE; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00064; FYVE; 1.
DR SMART; SM00233; PH; 1.
DR SUPFAM; SSF57903; SSF57903; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS50178; ZF_FYVE; 1.
PE 2: Evidence at transcript level;
KW Apoptosis; Cytoplasm; Lysosome; Metal-binding; Nucleus; Reference proteome;
KW Zinc; Zinc-finger.
FT CHAIN 1..279
FT /note="Pleckstrin homology domain-containing family F
FT member 1"
FT /id="PRO_0000251598"
FT DOMAIN 35..131
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT ZN_FING 152..212
FT /note="FYVE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT REGION 220..263
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 158
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 161
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 175
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 178
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 183
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 186
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 204
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT BINDING 207
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00091"
FT CONFLICT 216
FT /note="L -> R (in Ref. 1; BAE34303/BAE41685 and 2;
FT AAH02120)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 279 AA; 31158 MW; 07D3A18A8AF96DCB CRC64;
MVDHLANTEI NSQRIAAVES CFGASGQPLA LPGRVLLGEG VLTKECRKKA KPRIFFLFND
ILVYGSIVLS KRKYRSQHII PLEEVTLEPL PETLQAKNRW MIKTAKKSFV VSAASTTERQ
EWISHIEECV RRQLLATGRQ PTTEHAAPWI PDKATDICMR CTQTRFSALT RRHHCRKCGF
VVCAECSRER FLLPRLSPKP LRVCSLCYRE LAAQKLREEA REGIGGSPPQ LSHLGGTVCG
ASSGDDDDSD EDREGNGDGD WPTQVEFYAS GVSWSAFHS
