PCMD1_HUMAN
ID PCMD1_HUMAN Reviewed; 357 AA.
AC Q96MG8; F5H1M8; Q96FK9;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 {ECO:0000305};
GN Name=PCMTD1 {ECO:0000312|HGNC:HGNC:30483};
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] (ISOFORM 1), AND VARIANT ILE-312.
RC TISSUE=Skeletal muscle;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-312.
RC TISSUE=Ovary, and Skin;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 114-357, AND VARIANT ILE-312.
RC TISSUE=Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP MYRISTOYLATION AT GLY-2, CLEAVAGE OF INITIATOR METHIONINE, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=25807930; DOI=10.1002/anie.201500342;
RA Broncel M., Serwa R.A., Ciepla P., Krause E., Dallman M.J., Magee A.I.,
RA Tate E.W.;
RT "Multifunctional reagents for quantitative proteome-wide analysis of
RT protein modification in human cells and dynamic profiling of protein
RT lipidation during vertebrate development.";
RL Angew. Chem. Int. Ed. 54:5948-5951(2015).
CC -!- INTERACTION:
CC Q96MG8; O60260-5: PRKN; NbExp=3; IntAct=EBI-2561395, EBI-21251460;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000305};
CC Lipid-anchor {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96MG8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MG8-2; Sequence=VSP_061574;
CC -!- SIMILARITY: Belongs to the methyltransferase superfamily. L-
CC isoaspartyl/D-aspartyl protein methyltransferase family. {ECO:0000305}.
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DR EMBL; AK056952; BAB71324.1; -; mRNA.
DR EMBL; AC090186; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC103769; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC010693; AAH10693.1; -; mRNA.
DR EMBL; BC032670; AAH32670.1; -; mRNA.
DR EMBL; BX640885; CAE45939.1; -; mRNA.
DR CCDS; CCDS6148.1; -. [Q96MG8-1]
DR RefSeq; NP_001273711.1; NM_001286782.1.
DR RefSeq; NP_443169.2; NM_052937.3. [Q96MG8-1]
DR AlphaFoldDB; Q96MG8; -.
DR SMR; Q96MG8; -.
DR BioGRID; 125425; 17.
DR IntAct; Q96MG8; 8.
DR MINT; Q96MG8; -.
DR STRING; 9606.ENSP00000353739; -.
DR iPTMnet; Q96MG8; -.
DR PhosphoSitePlus; Q96MG8; -.
DR BioMuta; PCMTD1; -.
DR DMDM; 269849644; -.
DR EPD; Q96MG8; -.
DR jPOST; Q96MG8; -.
DR MassIVE; Q96MG8; -.
DR MaxQB; Q96MG8; -.
DR PaxDb; Q96MG8; -.
DR PeptideAtlas; Q96MG8; -.
DR PRIDE; Q96MG8; -.
DR ProteomicsDB; 77354; -. [Q96MG8-1]
DR ProteomicsDB; 77355; -. [Q96MG8-2]
DR Antibodypedia; 11598; 95 antibodies from 16 providers.
DR DNASU; 115294; -.
DR Ensembl; ENST00000360540.9; ENSP00000353739.5; ENSG00000168300.14. [Q96MG8-1]
DR Ensembl; ENST00000522514.6; ENSP00000428099.1; ENSG00000168300.14. [Q96MG8-1]
DR GeneID; 115294; -.
DR KEGG; hsa:115294; -.
DR MANE-Select; ENST00000522514.6; ENSP00000428099.1; NM_052937.4; NP_443169.2.
DR UCSC; uc003xqx.6; human. [Q96MG8-1]
DR CTD; 115294; -.
DR DisGeNET; 115294; -.
DR GeneCards; PCMTD1; -.
DR HGNC; HGNC:30483; PCMTD1.
DR HPA; ENSG00000168300; Low tissue specificity.
DR neXtProt; NX_Q96MG8; -.
DR OpenTargets; ENSG00000168300; -.
DR PharmGKB; PA142671194; -.
DR VEuPathDB; HostDB:ENSG00000168300; -.
DR eggNOG; KOG1661; Eukaryota.
DR GeneTree; ENSGT00950000183032; -.
DR HOGENOM; CLU_029295_0_0_1; -.
DR InParanoid; Q96MG8; -.
DR OMA; FELCEPR; -.
DR OrthoDB; 1560133at2759; -.
DR PhylomeDB; Q96MG8; -.
DR TreeFam; TF329329; -.
DR PathwayCommons; Q96MG8; -.
DR SignaLink; Q96MG8; -.
DR BioGRID-ORCS; 115294; 27 hits in 1076 CRISPR screens.
DR ChiTaRS; PCMTD1; human.
DR GenomeRNAi; 115294; -.
DR Pharos; Q96MG8; Tbio.
DR PRO; PR:Q96MG8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96MG8; protein.
DR Bgee; ENSG00000168300; Expressed in oviduct epithelium and 193 other tissues.
DR ExpressionAtlas; Q96MG8; baseline and differential.
DR Genevisible; Q96MG8; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004719; F:protein-L-isoaspartate (D-aspartate) O-methyltransferase activity; IBA:GO_Central.
DR Gene3D; 3.40.50.150; -; 1.
DR InterPro; IPR000682; PCMT.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR PANTHER; PTHR11579; PTHR11579; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Lipoprotein; Membrane; Myristate;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:25807930"
FT CHAIN 2..357
FT /note="Protein-L-isoaspartate O-methyltransferase domain-
FT containing protein 1"
FT /id="PRO_0000111925"
FT REGION 299..333
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 313..333
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 64
FT /evidence="ECO:0000250"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:25807930"
FT VAR_SEQ 1..137
FT /note="MGGAVSAGEDNDDLIDNLKEAQYIRTERVEQAFRAIDRGDYYLEGYRDNAYK
FT DLAWKHGNIHLSAPCIYSEVMEALKLQPGLSFLNLGSGTGYLSTMVGLILGPFGINHGI
FT ELHSDVVEYAKEKLESFIKNSDSFDK -> MPGPRRLRSPGGSGCSSRGSGPRLSTRRW
FT RPCCYCGGSGVWLLRTPPSPSAWPARRCPRHR (in isoform 2)"
FT /id="VSP_061574"
FT VARIANT 312
FT /note="N -> I (in dbSNP:rs12335014)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_060401"
FT CONFLICT 140
FT /note="F -> S (in Ref. 3; AAH10693)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 357 AA; 40675 MW; 84E98D02156F9C8E CRC64;
MGGAVSAGED NDDLIDNLKE AQYIRTERVE QAFRAIDRGD YYLEGYRDNA YKDLAWKHGN
IHLSAPCIYS EVMEALKLQP GLSFLNLGSG TGYLSTMVGL ILGPFGINHG IELHSDVVEY
AKEKLESFIK NSDSFDKFEF CEPAFVVGNC LQIASDSHQY DRIYCGAGVQ KDHENYMKIL
LKVGGILVMP IEDQLTQIMR TGQNTWESKN ILAVSFAPLV QPSKNDNGKP DSVGLPPCAV
RNLQDLARIY IRRTLRNFIN DEMQAKGIPQ RAPPKRKRKR VKQRINTYVF VGNQLIPQPL
DSEEDEKMEE DNKEEEEKDH NEAMKPEEPP QNLLREKIMK LPLPESLKAY LTYFRDK
