PPR21_MOUSE
ID PPR21_MOUSE Reviewed; 780 AA.
AC Q3TDD9; B2RPZ6; Q3KQN7; Q3U2U9; Q8BHS9; Q9D1A1;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Protein phosphatase 1 regulatory subunit 21;
DE AltName: Full=Coiled-coil domain-containing protein 128;
DE AltName: Full=KLRAQ motif-containing protein 1;
GN Name=Ppp1r21; Synonyms=Ccdc128, Klraq1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J, and NOD;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-652, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, Kidney, Liver, Lung, Pancreas, Spleen,
RC and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=30520571; DOI=10.1002/humu.23694;
RA Rehman A.U., Najafi M., Kambouris M., Al-Gazali L., Makrythanasis P.,
RA Rad A., Maroofian R., Rajab A., Stark Z., Hunter J.V., Bakey Z.,
RA Tokita M.J., He W., Vetrini F., Petersen A., Santoni F.A., Hamamy H.,
RA Wu K., Al-Jasmi F., Helmstaedter M., Arnold S.J., Xia F., Richmond C.,
RA Liu P., Karimiani E.G., Karami Madani G., Lunke S., El-Shanti H., Eng C.M.,
RA Antonarakis S.E., Hertecant J., Walkiewicz M., Yang Y., Schmidts M.;
RT "Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental
RT syndrome with impaired endocytic function.";
RL Hum. Mutat. 40:267-280(2019).
CC -!- FUNCTION: Putative regulator of protein phosphatase 1 (PP1) activity.
CC May play a role in the endosomal sorting process or in endosome
CC maturation pathway. {ECO:0000250|UniProtKB:Q6ZMI0}.
CC -!- SUBUNIT: Interacts with PPP1CA. {ECO:0000250|UniProtKB:Q6ZMI0}.
CC -!- SUBCELLULAR LOCATION: Early endosome {ECO:0000250|UniProtKB:Q6ZMI0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3TDD9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3TDD9-2; Sequence=VSP_024988, VSP_024990;
CC -!- TISSUE SPECIFICITY: Expressed at 16 dpc in the cortex (at protein
CC level). {ECO:0000269|PubMed:30520571}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to intron retention.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI06119.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AK003781; BAB22992.1; -; mRNA.
DR EMBL; AK028185; BAC25797.1; -; mRNA.
DR EMBL; AK155094; BAE33041.1; -; mRNA.
DR EMBL; AK170254; BAE41663.1; -; mRNA.
DR EMBL; BC106118; AAI06119.1; ALT_SEQ; mRNA.
DR EMBL; BC137673; AAI37674.1; -; mRNA.
DR CCDS; CCDS29023.1; -. [Q3TDD9-1]
DR RefSeq; NP_082934.3; NM_028658.4. [Q3TDD9-1]
DR AlphaFoldDB; Q3TDD9; -.
DR SMR; Q3TDD9; -.
DR BioGRID; 216285; 4.
DR STRING; 10090.ENSMUSP00000048443; -.
DR iPTMnet; Q3TDD9; -.
DR PhosphoSitePlus; Q3TDD9; -.
DR EPD; Q3TDD9; -.
DR jPOST; Q3TDD9; -.
DR MaxQB; Q3TDD9; -.
DR PaxDb; Q3TDD9; -.
DR PeptideAtlas; Q3TDD9; -.
DR PRIDE; Q3TDD9; -.
DR ProteomicsDB; 291788; -. [Q3TDD9-1]
DR ProteomicsDB; 291789; -. [Q3TDD9-2]
DR Antibodypedia; 47409; 102 antibodies from 18 providers.
DR DNASU; 73825; -.
DR Ensembl; ENSMUST00000038551; ENSMUSP00000048443; ENSMUSG00000034709. [Q3TDD9-1]
DR GeneID; 73825; -.
DR KEGG; mmu:73825; -.
DR UCSC; uc008dvo.2; mouse. [Q3TDD9-1]
DR UCSC; uc008dvp.2; mouse. [Q3TDD9-2]
DR CTD; 129285; -.
DR MGI; MGI:1921075; Ppp1r21.
DR VEuPathDB; HostDB:ENSMUSG00000034709; -.
DR eggNOG; KOG4421; Eukaryota.
DR GeneTree; ENSGT00390000006820; -.
DR HOGENOM; CLU_022372_0_0_1; -.
DR InParanoid; Q3TDD9; -.
DR OMA; QHLHENA; -.
DR OrthoDB; 1295591at2759; -.
DR PhylomeDB; Q3TDD9; -.
DR TreeFam; TF320535; -.
DR BioGRID-ORCS; 73825; 3 hits in 74 CRISPR screens.
DR ChiTaRS; Ppp1r21; mouse.
DR PRO; PR:Q3TDD9; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; Q3TDD9; protein.
DR Bgee; ENSMUSG00000034709; Expressed in CA3 field of hippocampus and 257 other tissues.
DR Genevisible; Q3TDD9; MM.
DR GO; GO:0005769; C:early endosome; ISS:UniProtKB.
DR InterPro; IPR019348; KLRAQ/TTKRSYEDQ_C.
DR InterPro; IPR040024; PPP1R21.
DR InterPro; IPR019343; Unchr_KLRAQ/TTKRSYEDQ_N.
DR PANTHER; PTHR21448; PTHR21448; 1.
DR Pfam; PF10205; KLRAQ; 1.
DR Pfam; PF10212; TTKRSYEDQ; 1.
DR SMART; SM01254; KLRAQ; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Endosome; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..780
FT /note="Protein phosphatase 1 regulatory subunit 21"
FT /id="PRO_0000286099"
FT REGION 84..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1..209
FT /evidence="ECO:0000255"
FT COILED 556..605
FT /evidence="ECO:0000255"
FT COILED 694..742
FT /evidence="ECO:0000255"
FT MOD_RES 652
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT VAR_SEQ 1..516
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_024988"
FT VAR_SEQ 520..645
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_024990"
FT CONFLICT 11
FT /note="Q -> E (in Ref. 1; BAE33041)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="N -> S (in Ref. 1; BAC25797)"
FT /evidence="ECO:0000305"
FT CONFLICT 341
FT /note="M -> T (in Ref. 1; BAE33041/BAE41663)"
FT /evidence="ECO:0000305"
FT CONFLICT 390
FT /note="T -> R (in Ref. 1; BAE33041/BAE41663)"
FT /evidence="ECO:0000305"
FT CONFLICT 521
FT /note="K -> E (in Ref. 1; BAC25797)"
FT /evidence="ECO:0000305"
FT CONFLICT 600
FT /note="I -> N (in Ref. 1; BAE33041/BAE41663)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 780 AA; 88338 MW; BC8E59E8CBCE32B8 CRC64;
MASAELQGKY QKLAQEYSKL RAQNQVLKKG VVDEQASSAA LKEQLKMKDQ SLRKLQQEMD
SLTFRNLQLA KRVELLQDEL ALSEPRGKKN KKSGESSSQL SQEQKSVFDE DLQKKIEENE
RLHIQFFEAD EHHRHVEAEL RSRLATLETE AAQHQAVIDG LTRKYMETIE KLQSDKAKLE
VKSQTLEKEA KECRLRTEEC QLQLKNLHED LSGRLEESLS IINEKVPFND TKCHLYNALN
VPLHNRRHQL KMRDIAGQAL AFVQDLVPAL LNFHTYTEQR IQIFPVDSAI DTISPLNQKF
SQYLHENASY VRPLEEGMLH LFESITEDTV TVLETTVKLK MFSDHLTSYV RFLRKILPYQ
LKSLEEECES SLCTPALRAR NLELSQDMKT MTAVFEKLQT YVTLLALPST EPDGLLRTNY
TSVLTNVGAA LHGFHDVMKD ISKHYSQKAS IEHEIPTATQ KLVTTNDCIL SSAVTLTNGA
GKIASFFGNN VDYFIASLSY GPKTASGFIS PLSAECMLQY KKKAAAYMKS LRTPLAESVP
YGEAVANRRV LLSSTESREG LAQQVQQSLE KISKLEQEKE HWMLEAQLAK IKLEKENQRI
ADRLRGTTSA QLPGLAQENA TVPIASSQEE AAAKVLTEPV QSTSLVGMLT RTPDSEAPDV
ESREDLIKSH YMARIAELTS QLQLADSKSV HFYAECRALS KRLALAEKSK ETLTEEMRLA
SQNISRLQDE LMTTKRSYED QLSMMSDHLC SMNETLSKQR EEIDTLKMAS KGNSKKTRNR
