2024-03-29 18:58:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024310 1774 bp mRNA linear PRI 10-MAY-2013 DEFINITION Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 1 (PLEKHF1), mRNA. ACCESSION NM_024310 VERSION NM_024310.4 GI:153791376 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1774) AUTHORS Lin,W.J., Yang,C.Y., Li,L.L., Yi,Y.H., Chen,K.W., Lin,Y.C., Liu,C.C. and Lin,C.H. TITLE Lysosomal targeting of phafin1 mediated by Rab7 induces autophagosome formation JOURNAL Biochem. Biophys. Res. Commun. 417 (1), 35-42 (2012) PUBMED 22115783 REMARK GeneRIF: The results suggest that in addition to its role in endosome transport, phafin1 is also involved in lysosomal targeting and autophagosome formation. REFERENCE 2 (bases 1 to 1774) AUTHORS Chen,W., Li,N., Chen,T., Han,Y., Li,C., Wang,Y., He,W., Zhang,L., Wan,T. and Cao,X. TITLE 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 JOURNAL J. Biol. Chem. 280 (49), 40985-40995 (2005) PUBMED 16188880 REMARK GeneRIF: functional characterization of LAPF, a novel lysosome-associated apoptosis-inducing protein containing PH and FYVE domains; LAPF may launch caspase-independent apoptosis through the lysosomal-mitochondrial pathway COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY037145.2 and BC018876.2. On Jul 25, 2007 this sequence version replaced gi:141803009. Sequence Note: removed 1 base from the 3' end that did not align to the reference genome assembly. ##Evidence-Data-START## Transcript exon combination :: BC018876.2, AY037145.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-46 AY037145.2 365-410 47-1774 BC018876.2 1-1728 FEATURES Location/Qualifiers source 1..1774 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q12" gene 1..1774 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="pleckstrin homology domain containing, family F (with FYVE domain) member 1" /db_xref="GeneID:79156" /db_xref="HGNC:20764" /db_xref="MIM:615200" exon 1..86 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /inference="alignment:Splign:1.39.8" variation 14 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:190634366" variation 15 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:7252214" variation 86 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:373563812" exon 87..1740 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /inference="alignment:Splign:1.39.8" variation 87 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="c" /db_xref="dbSNP:370308533" variation 89 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:73546194" CDS 103..942 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="apoptosis-inducing protein D; phafin 1; phafin-1; PH domain-containing family F member 1; PH and FYVE domain-containing protein 1; zinc finger FYVE domain-containing protein 15; lysosome-associated apoptosis-inducing protein containing PH and FYVE domains" /codon_start=1 /product="pleckstrin homology domain-containing family F member 1" /protein_id="NP_077286.3" /db_xref="GI:153791377" /db_xref="CCDS:CCDS12417.1" /db_xref="GeneID:79156" /db_xref="HGNC:20764" /db_xref="MIM:615200" /translation="
MVDHLANTEINSQRIAAVESCFGASGQPLALPGRVLLGEGVLTKECRKKAKPRIFFLFNDILVYGSIVLNKRKYRSQHIIPLEEVTLELLPETLQAKNRWMIKTAKKSFVVSAASATERQEWISHIEECVRRQLRATGRPPSTEHAAPWIPDKATDICMRCTQTRFSALTRRHHCRKCGFVVCAECSRQRFLLPRLSPKPVRVCSLCYRELAAQQRQEEAEEQGAGSPGQPAHLARPICGASSGDDDDSDEDKEGSRDGDWPSSVEFYASGVAWSAFHS
" misc_feature 199..507 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="Pleckstrin homology-like domain; Region: PH-like; cl00273" /db_xref="CDD:206947" misc_feature order(214..237,253..273,280..300,358..369,397..411, 424..438,463..489) /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="PH-like core; other site" /db_xref="CDD:176275" misc_feature 541..735 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="FYVE zinc finger; Region: FYVE; pfam01363" /db_xref="CDD:201748" misc_feature 568..732 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1; Region: FYVE; cd00065" /db_xref="CDD:28947" misc_feature order(574..576,583..585,625..627,634..636,649..651, 658..660,712..714,721..723) /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="Zn binding sites [ion binding]; other site" /db_xref="CDD:28947" misc_feature order(613..630,643..645,706..708) /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /note="phosphatidylinositol 3-phosphate binding site [chemical binding]; other site" /db_xref="CDD:28947" variation 110 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:147497059" variation 142 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:139569326" variation 153 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:111957630" variation 176 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:150514783" variation 197 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:373632203" variation 203 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:368649144" variation 220 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:149662980" variation 258 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:371222738" variation 279 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:202149865" variation 291 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:368154863" variation 294 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:199781903" variation 300 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:146769630" variation 303 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:201132096" variation 316 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:139410556" variation 334 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="c" /db_xref="dbSNP:144100306" variation 346 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:34508378" variation 358 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="t" /db_xref="dbSNP:200004210" variation 361 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:368022670" variation 366 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:199994269" variation 369 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:369319464" variation 413 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:371888855" variation 415 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:374736876" variation 419 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:202232423" variation 448 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:148959326" variation 480 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:143695724" variation 490 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:151057741" variation 492 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:369965916" variation 496 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="c" /db_xref="dbSNP:200981706" variation 497 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:61755459" variation 500 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:140957853" variation 538 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:146355233" variation 540 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:35720974" variation 588 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:57443990" variation 609 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:374530180" variation 611 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:377623788" variation 659 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:61750861" variation 670 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:200457407" variation 716 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:55771480" variation 749 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:201600613" variation 775 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:373659768" variation 814 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:377599859" variation 825 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:143273878" variation 840 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:147091446" variation 852 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:199506253" variation 865 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:138452593" variation 912 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:373551601" variation 947 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:192009741" variation 948 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:370991091" variation 995 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:3745169" variation 1137 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:144178632" variation 1243 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="a" /replace="g" /db_xref="dbSNP:140046211" variation 1325 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:370758254" STS 1328..1493 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /standard_name="RH66127" /db_xref="UniSTS:86580" variation 1410 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:77689604" variation 1423 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:112852685" variation 1568 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="g" /db_xref="dbSNP:183328035" variation 1623 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="c" /replace="t" /db_xref="dbSNP:371275700" variation 1719 /gene="PLEKHF1" /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15" /replace="g" /replace="t" /db_xref="dbSNP:151334176" ORIGIN
agctggccgggacccgggcggagcgggcggggacccgggctactgcggtgtggactcgagggctgggcgcggggccggcgcagaagccgccagctggagacgatggtggaccacttggccaacacggagatcaacagccagcgcatcgcggcagtggagagctgcttcggggcctcggggcagccgctggcgctgccaggccgagtgctgctgggcgagggcgtgctgaccaaagagtgccgcaagaaggccaagccgcgcatcttcttcctctttaacgacatcctggtgtatggcagcatcgtgctcaacaagcgcaagtaccgcagccagcacatcatccccctggaggaggtcacactggagctgttgccggagacgctgcaggccaagaaccgctggatgatcaagacggccaagaagtcctttgtggtgtcggccgcctccgctacggagcgccaggaatggattagccacatcgaggagtgcgtgcggcggcaactgagggccacgggccgcccgcccagcacggagcacgcggcaccctggatccccgacaaggccacggacatctgcatgcgctgcacgcagacgcgcttctctgccctcacgaggcgccaccactgccgcaagtgcggcttcgtggtctgcgctgagtgctcgcgccagcgcttcctgctcccgcgcctgtcccccaagcccgtgcgcgtctgcagcctctgctaccgcgaactggccgcccagcagcggcaggaggaggcggaggagcagggcgcggggtccccagggcagccagcccacctggcccggcccatctgcggagcgtccagtggagatgacgatgactccgacgaggacaaggagggcagcagggacggcgactggcccagcagcgtggagttctacgcctcgggggtggcctggtctgccttccacagctgacccccggcctgcagaacatctgtccccaagccagctccactgcccaggcccccaagagggcagctccagaagctgcccagggctccgggaccccatcccatggtggcaggtgcagcggtggggagtggctctttctggactcccagtgcctttttgctggacactgtgtccttatggcttcactgcaggtaatgcctttcccttcaggaagccccagaacacccacaggtcttggtaacaaacgccaccttacactctgcaggctgcagcggcagctccagatggcctcctgagctggacgaccccaggtctccagacatctagggaccagagcaggtttgggaacacagagggaagacaggatgggagtgtagccacagaacccacctgcaccctgacaggcacaccccactgaagagcctgagtcccaggaggcctcctggaagcccaggactgcccacccaccacgctggtgcccaccgcctggccagccaagccctgccgatcagacatgtgggctccccgaagcccagccagagactgccgtgctgtgggtgccaccaggcccagggactgcagcctgagctccccgaggcccagggcagccgggtgaggactctgtcctgtgtcacctctctccaggtgtccagctgtctcatgcctttttgtcctgtcctcagctctccgtgtggtcagcgaaaccattgttttctgttaggactcagttgcaagaacagaaaccctgcccccacttaataataaaaaagaaagtttattgatgggtggttgcaaaacaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79156 -> Molecular function: GO:0010314 [phosphatidylinositol-5-phosphate binding] evidence: IDA GeneID:79156 -> Molecular function: GO:0032266 [phosphatidylinositol-3-phosphate binding] evidence: IDA GeneID:79156 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:79156 -> Molecular function: GO:0070273 [phosphatidylinositol-4-phosphate binding] evidence: IDA GeneID:79156 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:79156 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA GeneID:79156 -> Biological process: GO:0007032 [endosome organization] evidence: IMP GeneID:79156 -> Biological process: GO:0010508 [positive regulation of autophagy] evidence: IDA GeneID:79156 -> Biological process: GO:0016050 [vesicle organization] evidence: IMP GeneID:79156 -> Biological process: GO:0072659 [protein localization to plasma membrane] evidence: IMP GeneID:79156 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:79156 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:79156 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:79156 -> Cellular component: GO:0005764 [lysosome] evidence: IDA GeneID:79156 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: IC GeneID:79156 -> Cellular component: GO:0005768 [endosome] evidence: IDA GeneID:79156 -> Cellular component: GO:0010008 [endosome membrane] evidence: IC GeneID:79156 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA
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