PPR21_HUMAN
ID PPR21_HUMAN Reviewed; 780 AA.
AC Q6ZMI0; B7ZKY5; B7ZKY7; E1B6W7; Q2TA78; Q6ZMI6; Q8IW83; Q8J029; Q96ES8;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 141.
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 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).
RC TISSUE=Colon;
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] (ISOFORM 2).
RC TISSUE=Ovary;
RA Guo J.H., Yu L.;
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5).
RC TISSUE=Brain, and Ovary;
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 [6]
RP INTERACTION WITH PPP1CA.
RX PubMed=19389623; DOI=10.1016/j.chembiol.2009.02.012;
RA Hendrickx A., Beullens M., Ceulemans H., Den Abt T., Van Eynde A.,
RA Nicolaescu E., Lesage B., Bollen M.;
RT "Docking motif-guided mapping of the interactome of protein phosphatase-
RT 1.";
RL Chem. Biol. 16:365-371(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP VARIANTS NEDHFBA 143-ARG--ARG-780 DEL AND 697-ARG--ARG-780 DEL, AND
RP INVOLVEMENT IN NEDHFBA.
RX PubMed=29808498; DOI=10.1111/cge.13387;
RA Suleiman J., Al Hashem A.M., Tabarki B., Al-Thihli K., Bi W.,
RA El-Hattab A.W.;
RT "PPP1R21 homozygous null variants associated with developmental delay,
RT muscle weakness, distinctive facial features, and brain abnormalities.";
RL Clin. Genet. 94:351-355(2018).
RN [9]
RP SUBCELLULAR LOCATION, INVOLVEMENT NEDHFBA, AND FUNCTION.
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).
RN [10]
RP VARIANT NEDHFBA GLN-728--780-ARG DEL.
RX PubMed=28940097; DOI=10.1007/s00439-017-1843-2;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Expanding the genetic heterogeneity of intellectual disability.";
RL Hum. Genet. 136:1419-1429(2017).
RN [11]
RP ERRATUM OF PUBMED:28940097.
RX PubMed=29288388; DOI=10.1007/s00439-017-1859-7;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Correction to: Expanding the genetic heterogeneity of intellectual
RT disability.";
RL Hum. Genet. 137:105-109(2018).
RN [12]
RP VARIANT NEDHFBA 65-ARG--ARG-780 DEL.
RX PubMed=32985083; DOI=10.1002/ajmg.a.61889;
RA Loddo S., Alesi V., Radio F.C., Genovese S., Di Tommaso S., Calvieri G.,
RA Orlando V., Bertini E., Dentici M.L., Novelli A., Dallapiccola B.;
RT "PPP1R21-related syndromic intellectual disability: Report of an adult
RT patient and review.";
RL Am. J. Med. Genet. A 182:3014-3022(2020).
CC -!- FUNCTION: Putative regulator of protein phosphatase 1 (PP1) activity
CC (PubMed:19389623). May play a role in the endosomal sorting process or
CC in endosome maturation pathway (PubMed:30520571).
CC {ECO:0000269|PubMed:30520571, ECO:0000305|PubMed:19389623}.
CC -!- SUBUNIT: Interacts with PPP1CA. {ECO:0000269|PubMed:19389623}.
CC -!- INTERACTION:
CC Q6ZMI0-5; Q86V38: ATN1; NbExp=3; IntAct=EBI-25835994, EBI-11954292;
CC Q6ZMI0-5; P54253: ATXN1; NbExp=6; IntAct=EBI-25835994, EBI-930964;
CC Q6ZMI0-5; P46379-2: BAG6; NbExp=3; IntAct=EBI-25835994, EBI-10988864;
CC Q6ZMI0-5; P55212: CASP6; NbExp=3; IntAct=EBI-25835994, EBI-718729;
CC Q6ZMI0-5; P06307: CCK; NbExp=3; IntAct=EBI-25835994, EBI-6624398;
CC Q6ZMI0-5; P02489: CRYAA; NbExp=3; IntAct=EBI-25835994, EBI-6875961;
CC Q6ZMI0-5; P99999: CYCS; NbExp=3; IntAct=EBI-25835994, EBI-446479;
CC Q6ZMI0-5; O14645: DNALI1; NbExp=3; IntAct=EBI-25835994, EBI-395638;
CC Q6ZMI0-5; P00488: F13A1; NbExp=3; IntAct=EBI-25835994, EBI-2565863;
CC Q6ZMI0-5; P22607: FGFR3; NbExp=3; IntAct=EBI-25835994, EBI-348399;
CC Q6ZMI0-5; P14136: GFAP; NbExp=3; IntAct=EBI-25835994, EBI-744302;
CC Q6ZMI0-5; Q14957: GRIN2C; NbExp=3; IntAct=EBI-25835994, EBI-8285963;
CC Q6ZMI0-5; P06396: GSN; NbExp=3; IntAct=EBI-25835994, EBI-351506;
CC Q6ZMI0-5; O43464: HTRA2; NbExp=3; IntAct=EBI-25835994, EBI-517086;
CC Q6ZMI0-5; P42858: HTT; NbExp=9; IntAct=EBI-25835994, EBI-466029;
CC Q6ZMI0-5; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-25835994, EBI-1055254;
CC Q6ZMI0-5; O14901: KLF11; NbExp=3; IntAct=EBI-25835994, EBI-948266;
CC Q6ZMI0-5; Q92876: KLK6; NbExp=3; IntAct=EBI-25835994, EBI-2432309;
CC Q6ZMI0-5; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25835994, EBI-21591415;
CC Q6ZMI0-5; P19404: NDUFV2; NbExp=3; IntAct=EBI-25835994, EBI-713665;
CC Q6ZMI0-5; P29474: NOS3; NbExp=3; IntAct=EBI-25835994, EBI-1391623;
CC Q6ZMI0-5; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-25835994, EBI-2811583;
CC Q6ZMI0-5; D3DTS7: PMP22; NbExp=3; IntAct=EBI-25835994, EBI-25882629;
CC Q6ZMI0-5; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-25835994, EBI-5280197;
CC Q6ZMI0-5; P62826: RAN; NbExp=3; IntAct=EBI-25835994, EBI-286642;
CC Q6ZMI0-5; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-25835994, EBI-2623095;
CC Q6ZMI0-5; Q13148: TARDBP; NbExp=6; IntAct=EBI-25835994, EBI-372899;
CC -!- SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:30520571}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q6ZMI0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZMI0-2; Sequence=VSP_024987;
CC Name=5;
CC IsoId=Q6ZMI0-5; Sequence=VSP_043216, VSP_024987;
CC Name=3;
CC IsoId=Q6ZMI0-3; Sequence=VSP_024985, VSP_024986;
CC Name=4;
CC IsoId=Q6ZMI0-4; Sequence=VSP_024984;
CC -!- DISEASE: Neurodevelopmental disorder with hypotonia, facial
CC dysmorphism, and brain abnormalities (NEDHFBA) [MIM:619383]: An
CC autosomal recessive disorder characterized by global developmental
CC delay, severely impaired intellectual development, hypotonia, coarse
CC facial features, and muscle weakness, often resulting in the inability
CC to walk or sit. Additional features include feeding difficulties,
CC respiratory distress, scoliosis, poor visual function, and rotary
CC nystagmus. Brain imaging shows variable abnormalities, including
CC enlarged ventricles, decreased white matter volume, white matter
CC changes, thin corpus callosum, and cerebellar hypoplasia.
CC {ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:29808498,
CC ECO:0000269|PubMed:30520571, ECO:0000269|PubMed:32985083}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH11978.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAD18739.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK172753; BAD18739.1; ALT_FRAME; mRNA.
DR EMBL; AK172762; BAD18745.1; -; mRNA.
DR EMBL; AY134855; AAN08625.1; -; mRNA.
DR EMBL; AC093635; AAX93161.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00200.1; -; Genomic_DNA.
DR EMBL; BC011978; AAH11978.2; ALT_INIT; mRNA.
DR EMBL; BC040721; AAH40721.1; -; mRNA.
DR EMBL; BC111059; AAI11060.1; -; mRNA.
DR EMBL; BC117279; AAI17280.1; -; mRNA.
DR EMBL; BC143463; AAI43464.1; -; mRNA.
DR EMBL; BC143466; AAI43467.1; -; mRNA.
DR CCDS; CCDS1839.1; -. [Q6ZMI0-2]
DR CCDS; CCDS46278.1; -. [Q6ZMI0-1]
DR CCDS; CCDS54358.1; -. [Q6ZMI0-5]
DR RefSeq; NP_001129101.1; NM_001135629.2. [Q6ZMI0-1]
DR RefSeq; NP_001180404.1; NM_001193475.1. [Q6ZMI0-5]
DR RefSeq; NP_694539.1; NM_152994.4. [Q6ZMI0-2]
DR PDB; 7ND2; EM; 4.00 A; A/B=1-780.
DR PDBsum; 7ND2; -.
DR AlphaFoldDB; Q6ZMI0; -.
DR SMR; Q6ZMI0; -.
DR BioGRID; 126187; 65.
DR IntAct; Q6ZMI0; 66.
DR MINT; Q6ZMI0; -.
DR STRING; 9606.ENSP00000294952; -.
DR GlyConnect; 2064; 2 N-Linked glycans (1 site).
DR GlyGen; Q6ZMI0; 1 site, 4 N-linked glycans (1 site).
DR iPTMnet; Q6ZMI0; -.
DR PhosphoSitePlus; Q6ZMI0; -.
DR BioMuta; PPP1R21; -.
DR DMDM; 74710533; -.
DR EPD; Q6ZMI0; -.
DR jPOST; Q6ZMI0; -.
DR MassIVE; Q6ZMI0; -.
DR MaxQB; Q6ZMI0; -.
DR PaxDb; Q6ZMI0; -.
DR PeptideAtlas; Q6ZMI0; -.
DR PRIDE; Q6ZMI0; -.
DR ProteomicsDB; 67871; -. [Q6ZMI0-1]
DR ProteomicsDB; 67872; -. [Q6ZMI0-2]
DR ProteomicsDB; 67873; -. [Q6ZMI0-3]
DR ProteomicsDB; 67874; -. [Q6ZMI0-4]
DR ProteomicsDB; 67875; -. [Q6ZMI0-5]
DR Antibodypedia; 47409; 102 antibodies from 18 providers.
DR DNASU; 129285; -.
DR Ensembl; ENST00000281394.8; ENSP00000281394.4; ENSG00000162869.16. [Q6ZMI0-2]
DR Ensembl; ENST00000294952.13; ENSP00000294952.8; ENSG00000162869.16. [Q6ZMI0-1]
DR Ensembl; ENST00000449090.6; ENSP00000415696.2; ENSG00000162869.16. [Q6ZMI0-5]
DR GeneID; 129285; -.
DR KEGG; hsa:129285; -.
DR MANE-Select; ENST00000294952.13; ENSP00000294952.8; NM_001135629.3; NP_001129101.1.
DR UCSC; uc002rwk.4; human. [Q6ZMI0-1]
DR CTD; 129285; -.
DR DisGeNET; 129285; -.
DR GeneCards; PPP1R21; -.
DR HGNC; HGNC:30595; PPP1R21.
DR HPA; ENSG00000162869; Low tissue specificity.
DR MIM; 618159; gene.
DR MIM; 619383; phenotype.
DR neXtProt; NX_Q6ZMI0; -.
DR OpenTargets; ENSG00000162869; -.
DR PharmGKB; PA164722001; -.
DR VEuPathDB; HostDB:ENSG00000162869; -.
DR eggNOG; KOG4421; Eukaryota.
DR GeneTree; ENSGT00390000006820; -.
DR HOGENOM; CLU_022372_0_0_1; -.
DR InParanoid; Q6ZMI0; -.
DR OMA; QHLHENA; -.
DR OrthoDB; 1295591at2759; -.
DR PhylomeDB; Q6ZMI0; -.
DR TreeFam; TF320535; -.
DR PathwayCommons; Q6ZMI0; -.
DR SignaLink; Q6ZMI0; -.
DR BioGRID-ORCS; 129285; 13 hits in 1076 CRISPR screens.
DR ChiTaRS; PPP1R21; human.
DR GenomeRNAi; 129285; -.
DR Pharos; Q6ZMI0; Tdark.
DR PRO; PR:Q6ZMI0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZMI0; protein.
DR Bgee; ENSG00000162869; Expressed in endothelial cell and 174 other tissues.
DR ExpressionAtlas; Q6ZMI0; baseline and differential.
DR Genevisible; Q6ZMI0; HS.
DR GO; GO:0005769; C:early endosome; IDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA: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 3D-structure; Alternative splicing; Coiled coil; Disease variant; Endosome;
KW Intellectual disability; Phosphoprotein; Reference proteome.
FT CHAIN 1..780
FT /note="Protein phosphatase 1 regulatory subunit 21"
FT /id="PRO_0000286098"
FT REGION 84..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 760..780
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1..207
FT /evidence="ECO:0000255"
FT COILED 556..607
FT /evidence="ECO:0000255"
FT COILED 693..742
FT /evidence="ECO:0000255"
FT MOD_RES 652
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q3TDD9"
FT VAR_SEQ 363..779
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024984"
FT VAR_SEQ 534..564
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043216"
FT VAR_SEQ 566..574
FT /note="QQSLEKISK -> WHWENYGNC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024985"
FT VAR_SEQ 575..780
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024986"
FT VAR_SEQ 646..656
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_024987"
FT VARIANT 65..780
FT /note="Missing (in NEDHFBA)"
FT /evidence="ECO:0000269|PubMed:32985083"
FT /id="VAR_085954"
FT VARIANT 143..780
FT /note="Missing (in NEDHFBA)"
FT /evidence="ECO:0000269|PubMed:29808498"
FT /id="VAR_082035"
FT VARIANT 697..780
FT /note="Missing (in NEDHFBA)"
FT /evidence="ECO:0000269|PubMed:29808498"
FT /id="VAR_082036"
FT VARIANT 728..780
FT /note="Missing (in NEDHFBA; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:28940097"
FT /id="VAR_084655"
FT CONFLICT 235
FT /note="Q -> R (in Ref. 1; BAD18739)"
FT /evidence="ECO:0000305"
FT CONFLICT 476
FT /note="L -> S (in Ref. 1; BAD18739)"
FT /evidence="ECO:0000305"
FT CONFLICT 670
FT /note="H -> R (in Ref. 1; BAD18739)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 780 AA; 88314 MW; 8D265213DC80841A CRC64;
MASAELQGKY QKLAQEYSKL RAQNQVLKKG VVDEQANSAA LKEQLKMKDQ SLRKLQQEMD
SLTFRNLQLA KRVELLQDEL ALSEPRGKKN KKSGESSSQL SQEQKSVFDE DLQKKIEENE
RLHIQFFEAD EQHKHVEAEL RSRLATLETE AAQHQAVVDG LTRKYMETIE KLQNDKAKLE
VKSQTLEKEA KECRLRTEEC QLQLKTLHED LSGRLEESLS IINEKVPFND TKYSQYNALN
VPLHNRRHQL KMRDIAGQAL AFVQDLVTAL LNFHTYTEQR IQIFPVDSAI DTISPLNQKF
SQYLHENASY VRPLEEGMLH LFESITEDTV TVLETTVKLK TFSEHLTSYI CFLRKILPYQ
LKSLEEECES SLCTSALRAR NLELSQDMKK MTAVFEKLQT YIALLALPST EPDGLLRTNY
SSVLTNVGAA LHGFHDVMKD ISKHYSQKAA IEHELPTATQ KLITTNDCIL SSVVALTNGA
GKIASFFSNN LDYFIASLSY GPKAASGFIS PLSAECMLQY KKKAAAYMKS LRKPLLESVP
YEEALANRRI LLSSTESREG LAQQVQQSLE KISKLEQEKE HWMLEAQLAK IKLEKENQRI
ADKLKNTGSA QLVGLAQENA AVSNTAGQDE ATAKAVLEPI QSTSLIGTLT RTSDSEVPDV
ESREDLIKNH YMARIVELTS QLQLADSKSV HFYAECRALS KRLALAEKSK EALTEEMKLA
SQNISRLQDE LTTTKRSYED QLSMMSDHLC SMNETLSKQR EEIDTLKMSS KGNSKKNKSR
