PLPP7_HUMAN
ID PLPP7_HUMAN Reviewed; 271 AA.
AC Q8NBV4; Q5T6P0; Q96SS7; Q9BRC3;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Inactive phospholipid phosphatase 7 {ECO:0000312|HGNC:HGNC:28174};
DE AltName: Full=Phosphatidic acid phosphatase type 2 domain-containing protein 3;
GN Name=PLPP7 {ECO:0000312|HGNC:HGNC:28174}; Synonyms=C9orf67, PPAPDC3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT MET-174.
RC TISSUE=Brain;
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).
CC -!- FUNCTION: Plays a role as negative regulator of myoblast
CC differentiation, in part through effects on MTOR signaling. Has no
CC detectable enzymatic activity (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Homo and heterooligomer. Interacts with MTOR; controls MTOR-
CC dependent IGF2 expression during myoblast differentiation (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus envelope. Endoplasmic reticulum membrane.
CC Membrane; Multi-pass membrane protein. Note=Both the N- and C-terminal
CC are exposed to the cytoplasm/nucleoplasm. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the PA-phosphatase related phosphoesterase
CC family. {ECO:0000305}.
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DR EMBL; AK027568; BAB55204.1; -; mRNA.
DR EMBL; AK075207; BAC11472.1; -; mRNA.
DR EMBL; AL354855; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006362; AAH06362.2; -; mRNA.
DR CCDS; CCDS6942.1; -.
DR RefSeq; NP_116117.3; NM_032728.3.
DR AlphaFoldDB; Q8NBV4; -.
DR SMR; Q8NBV4; -.
DR BioGRID; 124274; 1.
DR IntAct; Q8NBV4; 1.
DR MINT; Q8NBV4; -.
DR STRING; 9606.ENSP00000361338; -.
DR DEPOD; PLPP7; -.
DR iPTMnet; Q8NBV4; -.
DR PhosphoSitePlus; Q8NBV4; -.
DR BioMuta; PLPP7; -.
DR DMDM; 74751178; -.
DR jPOST; Q8NBV4; -.
DR MassIVE; Q8NBV4; -.
DR PaxDb; Q8NBV4; -.
DR PeptideAtlas; Q8NBV4; -.
DR PRIDE; Q8NBV4; -.
DR ProteomicsDB; 72827; -.
DR Antibodypedia; 45196; 109 antibodies from 27 providers.
DR DNASU; 84814; -.
DR Ensembl; ENST00000372264.4; ENSP00000361338.3; ENSG00000160539.6.
DR GeneID; 84814; -.
DR KEGG; hsa:84814; -.
DR MANE-Select; ENST00000372264.4; ENSP00000361338.3; NM_032728.4; NP_116117.3.
DR UCSC; uc004cal.2; human.
DR CTD; 84814; -.
DR DisGeNET; 84814; -.
DR GeneCards; PLPP7; -.
DR HGNC; HGNC:28174; PLPP7.
DR HPA; ENSG00000160539; Group enriched (heart muscle, skeletal muscle, tongue).
DR MIM; 618743; gene.
DR neXtProt; NX_Q8NBV4; -.
DR OpenTargets; ENSG00000160539; -.
DR PharmGKB; PA134931886; -.
DR VEuPathDB; HostDB:ENSG00000160539; -.
DR eggNOG; KOG4268; Eukaryota.
DR GeneTree; ENSGT00940000157147; -.
DR HOGENOM; CLU_072573_4_0_1; -.
DR InParanoid; Q8NBV4; -.
DR OMA; KIHCKFL; -.
DR OrthoDB; 1356295at2759; -.
DR PhylomeDB; Q8NBV4; -.
DR TreeFam; TF323272; -.
DR PathwayCommons; Q8NBV4; -.
DR SignaLink; Q8NBV4; -.
DR BioGRID-ORCS; 84814; 14 hits in 1071 CRISPR screens.
DR GenomeRNAi; 84814; -.
DR Pharos; Q8NBV4; Tdark.
DR PRO; PR:Q8NBV4; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8NBV4; protein.
DR Bgee; ENSG00000160539; Expressed in apex of heart and 125 other tissues.
DR ExpressionAtlas; Q8NBV4; baseline and differential.
DR Genevisible; Q8NBV4; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005635; C:nuclear envelope; IBA:GO_Central.
DR GO; GO:0042392; F:sphingosine-1-phosphate phosphatase activity; IBA:GO_Central.
DR GO; GO:0010832; P:negative regulation of myotube differentiation; IEA:Ensembl.
DR InterPro; IPR036938; P_Acid_Pase_2/haloperoxi_sf.
DR InterPro; IPR000326; P_Acid_Pase_2/haloperoxidase.
DR Pfam; PF01569; PAP2; 1.
DR SMART; SM00014; acidPPc; 1.
DR SUPFAM; SSF48317; SSF48317; 1.
PE 2: Evidence at transcript level;
KW Endoplasmic reticulum; Membrane; Nucleus; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..271
FT /note="Inactive phospholipid phosphatase 7"
FT /id="PRO_0000239401"
FT TOPO_DOM 1..112
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 134..141
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 142..162
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 163..202
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 203..223
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 224..239
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 240..260
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 261..271
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..66
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 70..91
FT /note="Interaction with MTOR"
FT /evidence="ECO:0000250"
FT MOD_RES 43
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q91WB2"
FT MOD_RES 62
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q91WB2"
FT VARIANT 174
FT /note="T -> M (in dbSNP:rs2966332)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026646"
FT VARIANT 267
FT /note="L -> V (in dbSNP:rs11244366)"
FT /id="VAR_026647"
FT CONFLICT 203
FT /note="F -> Y (in Ref. 1; BAB55204)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 271 AA; 29448 MW; 1AE74180CDCD1A11 CRC64;
MPASQSRARA RDRNNVLNRA EFLSLNQPPK GGPEPRSSGR KASGPSAQPP PAGDGARERR
QSQQLPEEDC MQLNPSFKGI AFNSLLAIDI CMSKRLGVCA GRAASWASAR SMVKLIGITG
HGIPWIGGTI LCLVKSSTLA GQEVLMNLLL ALLLDIMTVA GVQKLIKRRG PYETSPSLLD
YLTMDIYAFP AGHASRAAMV SKFFLSHLVL AVPLRVLLVL WALCVGLSRV MIGRHHVTDV
LSGFVIGYLQ FRLVELVWMP SSTCQMLISA W