PP2D1_HUMAN
ID PP2D1_HUMAN Reviewed; 630 AA.
AC A8MPX8; Q96LI7;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Protein phosphatase 2C-like domain-containing protein 1;
GN Name=PP2D1; Synonyms=C3orf48;
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 2), AND VARIANT THR-260.
RC TISSUE=Testis;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT THR-260.
RC TISSUE=Testis;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A8MPX8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A8MPX8-2; Sequence=VSP_031721, VSP_031722;
CC Name=3;
CC IsoId=A8MPX8-3; Sequence=VSP_031723, VSP_031724;
CC -!- SIMILARITY: Belongs to the PP2C family. {ECO:0000305}.
CC -!- CAUTION: Although it belongs to the protein phosphatase 2C family, it
CC lacks some of the conserved residues that bind manganese, suggesting it
CC has no phosphatase activity. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BC021717; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK058178; BAB71705.1; -; mRNA.
DR EMBL; AC097635; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021717; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS58817.1; -. [A8MPX8-1]
DR RefSeq; NP_001239586.1; NM_001252657.1. [A8MPX8-1]
DR AlphaFoldDB; A8MPX8; -.
DR SMR; A8MPX8; -.
DR BioGRID; 127396; 2.
DR IntAct; A8MPX8; 2.
DR MINT; A8MPX8; -.
DR STRING; 9606.ENSP00000373702; -.
DR DEPOD; PP2D1; -.
DR iPTMnet; A8MPX8; -.
DR PhosphoSitePlus; A8MPX8; -.
DR BioMuta; PP2D1; -.
DR MaxQB; A8MPX8; -.
DR PaxDb; A8MPX8; -.
DR PeptideAtlas; A8MPX8; -.
DR PRIDE; A8MPX8; -.
DR Antibodypedia; 49756; 5 antibodies from 5 providers.
DR DNASU; 151649; -.
DR Ensembl; ENST00000333083.11; ENSP00000331295.7; ENSG00000183977.14. [A8MPX8-3]
DR Ensembl; ENST00000389050.5; ENSP00000373702.4; ENSG00000183977.14. [A8MPX8-1]
DR GeneID; 151649; -.
DR KEGG; hsa:151649; -.
DR MANE-Select; ENST00000389050.5; ENSP00000373702.4; NM_001252657.2; NP_001239586.1.
DR UCSC; uc021wtw.2; human. [A8MPX8-1]
DR CTD; 151649; -.
DR DisGeNET; 151649; -.
DR GeneCards; PP2D1; -.
DR HGNC; HGNC:28406; PP2D1.
DR HPA; ENSG00000183977; Group enriched (bone marrow, testis).
DR neXtProt; NX_A8MPX8; -.
DR OpenTargets; ENSG00000183977; -.
DR VEuPathDB; HostDB:ENSG00000183977; -.
DR eggNOG; KOG0698; Eukaryota.
DR GeneTree; ENSGT00390000017863; -.
DR HOGENOM; CLU_735582_0_0_1; -.
DR InParanoid; A8MPX8; -.
DR OMA; EHTTRNI; -.
DR OrthoDB; 364162at2759; -.
DR PhylomeDB; A8MPX8; -.
DR TreeFam; TF332888; -.
DR PathwayCommons; A8MPX8; -.
DR SignaLink; A8MPX8; -.
DR BioGRID-ORCS; 151649; 2 hits in 1068 CRISPR screens.
DR ChiTaRS; PP2D1; human.
DR GenomeRNAi; 151649; -.
DR Pharos; A8MPX8; Tdark.
DR PRO; PR:A8MPX8; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A8MPX8; protein.
DR Bgee; ENSG00000183977; Expressed in sperm and 99 other tissues.
DR Genevisible; A8MPX8; HS.
DR GO; GO:0004722; F:protein serine/threonine phosphatase activity; IEA:InterPro.
DR GO; GO:0006470; P:protein dephosphorylation; IBA:GO_Central.
DR CDD; cd00143; PP2Cc; 1.
DR Gene3D; 3.60.40.10; -; 1.
DR InterPro; IPR015655; PP2C.
DR InterPro; IPR036457; PPM-type_dom_sf.
DR InterPro; IPR001932; PPM-type_phosphatase_dom.
DR PANTHER; PTHR13832; PTHR13832; 1.
DR Pfam; PF00481; PP2C; 1.
DR SMART; SM00332; PP2Cc; 1.
DR SUPFAM; SSF81606; SSF81606; 1.
DR PROSITE; PS51746; PPM_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..630
FT /note="Protein phosphatase 2C-like domain-containing
FT protein 1"
FT /id="PRO_0000320672"
FT DOMAIN 170..621
FT /note="PPM-type phosphatase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01082"
FT REGION 557..578
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 365..376
FT /note="NVQAVLCRNGKG -> TRRNEHLPEYYG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031723"
FT VAR_SEQ 365..368
FT /note="NVQA -> MYIE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031721"
FT VAR_SEQ 369..630
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031722"
FT VAR_SEQ 377..630
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031724"
FT VARIANT 37
FT /note="R -> H (in dbSNP:rs9882323)"
FT /id="VAR_039272"
FT VARIANT 123
FT /note="F -> L (in dbSNP:rs7652446)"
FT /id="VAR_039273"
FT VARIANT 260
FT /note="A -> T (in dbSNP:rs4103004)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039274"
SQ SEQUENCE 630 AA; 71643 MW; 26214D83542F2B35 CRC64;
MSTNNALRVF WKSREWNMKT STFDSDEDIL LLPKRKRFRK KKSRPVRHTK RHEEEQVYEQ
GTTLPCSICK HEIDLTGIFL HKKQHVALAT LGFQWMGRKK PQPSVIAVQR QFMISKLLSS
FMFTEKTLQS INNAFELLWK KQIPAYYKIF DNIDRSVIYS QKICHLLIKG VGICEDRNST
WKADMNDKFT VVSNFGNKPN VCFFGLFDGH HGASAAELTS MELPVLLLHQ LSKFDPSYQM
TTDEQQIINS FYTVFREEYA AIEDLFSAIN KTEAVRCEYE DTHKAFAKAF WRMDRLLGLG
RKEVSRVQWS GCSAVTCILE GKPKSPYAHK NWKRKNTHDG LAESSPSQEM PKIISGILHV
ANTGNVQAVL CRNGKGFCLT KEHTTRNTNE RRRILQNGAV ISSNEPYGLV EGQVKTTRGL
GFHGNLKLKK SIIPAPQTIS VPIDDLCQFL IVATNGLWEV LDKEEVTALA MTTFHMYKET
YCPIIPNKSP SKGPLLFSTS EPNLTKSQSN IHVLFQYKSV SEVRVSTTNS KENLSDSNYS
KYCIYNPENV ETFPAETTHR KPCSEKVTDR PTSVNDVATN EKESDTKSFY EGAAEYVSHE
LVNAALLAGS RDNITVMVIF LNGSEYQLLT
