PCMD2_HUMAN
ID PCMD2_HUMAN Reviewed; 361 AA.
AC Q9NV79; E1P5H3; Q8IW60; Q9H4K2;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 10-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Protein-L-isoaspartate O-methyltransferase domain-containing protein 2;
GN Name=PCMTD2; Synonyms=C20orf36;
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] (ISOFORMS 1 AND 3).
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Placenta;
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 -!- INTERACTION:
CC Q9NV79; Q9UKU0-7: ACSL6; NbExp=3; IntAct=EBI-6309018, EBI-12883224;
CC Q9NV79; P54253: ATXN1; NbExp=6; IntAct=EBI-6309018, EBI-930964;
CC Q9NV79; Q14203-5: DCTN1; NbExp=3; IntAct=EBI-6309018, EBI-25840379;
CC Q9NV79; G5E9A7: DMWD; NbExp=3; IntAct=EBI-6309018, EBI-10976677;
CC Q9NV79; O43464: HTRA2; NbExp=3; IntAct=EBI-6309018, EBI-517086;
CC Q9NV79; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-6309018, EBI-1055254;
CC Q9NV79; O60333-2: KIF1B; NbExp=3; IntAct=EBI-6309018, EBI-10975473;
CC Q9NV79; P29474: NOS3; NbExp=3; IntAct=EBI-6309018, EBI-1391623;
CC Q9NV79; D3DTS7: PMP22; NbExp=3; IntAct=EBI-6309018, EBI-25882629;
CC Q9NV79; O60260-5: PRKN; NbExp=3; IntAct=EBI-6309018, EBI-21251460;
CC Q9NV79; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-6309018, EBI-396669;
CC Q9NV79; P37840: SNCA; NbExp=3; IntAct=EBI-6309018, EBI-985879;
CC Q9NV79; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-6309018, EBI-5235340;
CC Q9NV79; Q13148: TARDBP; NbExp=3; IntAct=EBI-6309018, EBI-372899;
CC Q9NV79; P40337-2: VHL; NbExp=3; IntAct=EBI-6309018, EBI-12157263;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NV79-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NV79-2; Sequence=VSP_008547;
CC Name=3;
CC IsoId=Q9NV79-3; Sequence=VSP_008546, VSP_008548;
CC -!- SIMILARITY: Belongs to the methyltransferase superfamily. L-
CC isoaspartyl/D-aspartyl protein methyltransferase family. {ECO:0000305}.
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DR EMBL; AK001745; BAA91877.1; -; mRNA.
DR EMBL; AK126700; BAC86648.1; -; mRNA.
DR EMBL; AL121581; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75152.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75153.1; -; Genomic_DNA.
DR EMBL; BC033665; AAH33665.1; -; mRNA.
DR EMBL; BC040945; AAH40945.1; -; mRNA.
DR CCDS; CCDS13559.1; -. [Q9NV79-1]
DR CCDS; CCDS46631.1; -. [Q9NV79-2]
DR RefSeq; NP_001098395.1; NM_001104925.1. [Q9NV79-2]
DR RefSeq; NP_060727.2; NM_018257.2. [Q9NV79-1]
DR AlphaFoldDB; Q9NV79; -.
DR SMR; Q9NV79; -.
DR BioGRID; 120542; 22.
DR IntAct; Q9NV79; 21.
DR MINT; Q9NV79; -.
DR STRING; 9606.ENSP00000307854; -.
DR iPTMnet; Q9NV79; -.
DR PhosphoSitePlus; Q9NV79; -.
DR BioMuta; PCMTD2; -.
DR DMDM; 41688812; -.
DR EPD; Q9NV79; -.
DR jPOST; Q9NV79; -.
DR MassIVE; Q9NV79; -.
DR MaxQB; Q9NV79; -.
DR PaxDb; Q9NV79; -.
DR PeptideAtlas; Q9NV79; -.
DR PRIDE; Q9NV79; -.
DR ProteomicsDB; 82757; -. [Q9NV79-1]
DR ProteomicsDB; 82758; -. [Q9NV79-2]
DR ProteomicsDB; 82759; -. [Q9NV79-3]
DR Antibodypedia; 30018; 83 antibodies from 17 providers.
DR DNASU; 55251; -.
DR Ensembl; ENST00000308824.11; ENSP00000307854.6; ENSG00000203880.12. [Q9NV79-1]
DR Ensembl; ENST00000369758.8; ENSP00000358773.3; ENSG00000203880.12. [Q9NV79-2]
DR Ensembl; ENST00000615818.3; ENSP00000482166.1; ENSG00000280663.4. [Q9NV79-1]
DR Ensembl; ENST00000627415.2; ENSP00000486510.1; ENSG00000280663.4. [Q9NV79-1]
DR Ensembl; ENST00000631244.2; ENSP00000486003.1; ENSG00000280663.4. [Q9NV79-2]
DR GeneID; 55251; -.
DR KEGG; hsa:55251; -.
DR MANE-Select; ENST00000308824.11; ENSP00000307854.6; NM_018257.3; NP_060727.2.
DR UCSC; uc002yil.5; human. [Q9NV79-1]
DR CTD; 55251; -.
DR DisGeNET; 55251; -.
DR GeneCards; PCMTD2; -.
DR HGNC; HGNC:15882; PCMTD2.
DR HPA; ENSG00000203880; Tissue enhanced (retina).
DR neXtProt; NX_Q9NV79; -.
DR OpenTargets; ENSG00000203880; -.
DR PharmGKB; PA25750; -.
DR VEuPathDB; HostDB:ENSG00000203880; -.
DR eggNOG; KOG1661; Eukaryota.
DR GeneTree; ENSGT00950000183032; -.
DR HOGENOM; CLU_029295_0_0_1; -.
DR InParanoid; Q9NV79; -.
DR OrthoDB; 1560133at2759; -.
DR PhylomeDB; Q9NV79; -.
DR TreeFam; TF329329; -.
DR PathwayCommons; Q9NV79; -.
DR SignaLink; Q9NV79; -.
DR BioGRID-ORCS; 55251; 28 hits in 1075 CRISPR screens.
DR ChiTaRS; PCMTD2; human.
DR GenomeRNAi; 55251; -.
DR Pharos; Q9NV79; Tdark.
DR PRO; PR:Q9NV79; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NV79; protein.
DR Bgee; ENSG00000203880; Expressed in pigmented layer of retina and 202 other tissues.
DR ExpressionAtlas; Q9NV79; baseline and differential.
DR Genevisible; Q9NV79; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
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; Myristate;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000255"
FT CHAIN 2..361
FT /note="Protein-L-isoaspartate O-methyltransferase domain-
FT containing protein 2"
FT /id="PRO_0000111927"
FT REGION 303..336
FT /note="Disordered"
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:0000255"
FT VAR_SEQ 1..224
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_008546"
FT VAR_SEQ 195..221
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008547"
FT VAR_SEQ 225..236
FT /note="SESGKSRLVQLP -> MLRFCAGLSDFA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_008548"
FT CONFLICT 12
FT /note="D -> E (in Ref. 1; BAA91877)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 361 AA; 41072 MW; CC239150135E0A1B CRC64;
MGGAVSAGED NDELIDNLKE AQYIRTELVE QAFRAIDRAD YYLEEFKENA YKDLAWKHGN
IHLSAPCIYS EVMEALDLQP GLSFLNLGSG TGYLSSMVGL ILGPFGVNHG VELHSDVIEY
AKQKLDFFIR TSDSFDKFDF CEPSFVTGNC LEISPDCSQY DRVYCGAGVQ KEHEEYMKNL
LKVGGILVMP LEEKLTKITR TGPSAWETKK ILAVSFAPLI QPCHSESGKS RLVQLPPVAV
RSLQDLARIA IRGTIKKIIH QETVSKNGNG LKNTPRFKRR RVRRRRMETI VFLDKEVFAS
RISNPSDDNS CEDLEEERRE EEEKTPPETK PDPPVNFLRQ KVLSLPLPDP LKYYLLYYRE
K