UniProtKB - Q6ZMI0 (PPR21_HUMAN)
Protein
Protein phosphatase 1 regulatory subunit 21
Gene
PPP1R21
Organism
Homo sapiens (Human)
Status
Functioni
Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (PubMed:30520571).1 Publication1 Publication
Enzyme and pathway databases
PathwayCommonsi | Q6ZMI0 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein phosphatase 1 regulatory subunit 21Alternative name(s): Coiled-coil domain-containing protein 128 KLRAQ motif-containing protein 1 |
Gene namesi | Name:PPP1R21 Synonyms:CCDC128, KLRAQ1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30595, PPP1R21 |
MIMi | 618159, gene |
neXtProti | NX_Q6ZMI0 |
VEuPathDBi | HostDB:ENSG00000162869.15 |
Subcellular locationi
Endosome
- Early endosome 1 Publication
Endosome
- early endosome Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
EndosomePathology & Biotechi
Involvement in diseasei
PPP1R21 mutations may be the cause of neurodevelopmental disorder characterized by hypotonia, severe global developmental delay, facial dysmorphism, vision impairment and/or nystagmus, respiratory problems, feeding difficulties, and hepato/hepatosplenomegaly. Neuroradiologically, it is characterized by prominent and slightly dysmorphic ventricular system with irregular outline to the bodies of the lateral ventricles, loss of white matter and thinning of the corpus callosum.2 Publications
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 129285 |
OpenTargetsi | ENSG00000162869 |
PharmGKBi | PA164722001 |
Miscellaneous databases
Pharosi | Q6ZMI0, Tdark |
Genetic variation databases
BioMutai | PPP1R21 |
DMDMi | 74710533 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000286098 | 1 – 780 | Protein phosphatase 1 regulatory subunit 21Add BLAST | 780 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 652 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q6ZMI0 |
jPOSTi | Q6ZMI0 |
MassIVEi | Q6ZMI0 |
MaxQBi | Q6ZMI0 |
PaxDbi | Q6ZMI0 |
PeptideAtlasi | Q6ZMI0 |
PRIDEi | Q6ZMI0 |
ProteomicsDBi | 67871 [Q6ZMI0-1] 67872 [Q6ZMI0-2] 67873 [Q6ZMI0-3] 67874 [Q6ZMI0-4] 67875 [Q6ZMI0-5] |
PTM databases
GlyConnecti | 2064, 2 N-Linked glycans (1 site) |
GlyGeni | Q6ZMI0, 1 site, 2 N-linked glycans (1 site) |
iPTMneti | Q6ZMI0 |
PhosphoSitePlusi | Q6ZMI0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000162869, Expressed in corpus callosum and 208 other tissues |
ExpressionAtlasi | Q6ZMI0, baseline and differential |
Genevisiblei | Q6ZMI0, HS |
Organism-specific databases
HPAi | ENSG00000162869, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with PPP1CA.
1 PublicationBinary interactionsi
Hide detailsIsoform 5 [Q6ZMI0-5]
Protein-protein interaction databases
BioGRIDi | 126187, 39 interactors |
IntActi | Q6ZMI0, 66 interactors |
MINTi | Q6ZMI0 |
STRINGi | 9606.ENSP00000294952 |
Miscellaneous databases
RNActi | Q6ZMI0, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1 – 207 | Sequence analysisAdd BLAST | 207 | |
Coiled coili | 556 – 607 | Sequence analysisAdd BLAST | 52 | |
Coiled coili | 693 – 742 | Sequence analysisAdd BLAST | 50 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4421, Eukaryota |
GeneTreei | ENSGT00390000006820 |
HOGENOMi | CLU_022372_0_0_1 |
InParanoidi | Q6ZMI0 |
OMAi | KVQIFPI |
OrthoDBi | 1295591at2759 |
PhylomeDBi | Q6ZMI0 |
TreeFami | TF320535 |
Family and domain databases
InterProi | View protein in InterPro IPR019348, KLRAQ/TTKRSYEDQ_C IPR040024, PPP1R21 IPR019343, Unchr_KLRAQ/TTKRSYEDQ_N |
PANTHERi | PTHR21448, PTHR21448, 1 hit |
Pfami | View protein in Pfam PF10205, KLRAQ, 1 hit PF10212, TTKRSYEDQ, 1 hit |
SMARTi | View protein in SMART SM01254, KLRAQ, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6ZMI0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASAELQGKY QKLAQEYSKL RAQNQVLKKG VVDEQANSAA LKEQLKMKDQ
60 70 80 90 100
SLRKLQQEMD SLTFRNLQLA KRVELLQDEL ALSEPRGKKN KKSGESSSQL
110 120 130 140 150
SQEQKSVFDE DLQKKIEENE RLHIQFFEAD EQHKHVEAEL RSRLATLETE
160 170 180 190 200
AAQHQAVVDG LTRKYMETIE KLQNDKAKLE VKSQTLEKEA KECRLRTEEC
210 220 230 240 250
QLQLKTLHED LSGRLEESLS IINEKVPFND TKYSQYNALN VPLHNRRHQL
260 270 280 290 300
KMRDIAGQAL AFVQDLVTAL LNFHTYTEQR IQIFPVDSAI DTISPLNQKF
310 320 330 340 350
SQYLHENASY VRPLEEGMLH LFESITEDTV TVLETTVKLK TFSEHLTSYI
360 370 380 390 400
CFLRKILPYQ LKSLEEECES SLCTSALRAR NLELSQDMKK MTAVFEKLQT
410 420 430 440 450
YIALLALPST EPDGLLRTNY SSVLTNVGAA LHGFHDVMKD ISKHYSQKAA
460 470 480 490 500
IEHELPTATQ KLITTNDCIL SSVVALTNGA GKIASFFSNN LDYFIASLSY
510 520 530 540 550
GPKAASGFIS PLSAECMLQY KKKAAAYMKS LRKPLLESVP YEEALANRRI
560 570 580 590 600
LLSSTESREG LAQQVQQSLE KISKLEQEKE HWMLEAQLAK IKLEKENQRI
610 620 630 640 650
ADKLKNTGSA QLVGLAQENA AVSNTAGQDE ATAKAVLEPI QSTSLIGTLT
660 670 680 690 700
RTSDSEVPDV ESREDLIKNH YMARIVELTS QLQLADSKSV HFYAECRALS
710 720 730 740 750
KRLALAEKSK EALTEEMKLA SQNISRLQDE LTTTKRSYED QLSMMSDHLC
760 770 780
SMNETLSKQR EEIDTLKMSS KGNSKKNKSR
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WBY8 | F8WBY8_HUMAN | Protein phosphatase 1 regulatory su... | PPP1R21 | 53 | Annotation score: | ||
F8WE40 | F8WE40_HUMAN | Protein phosphatase 1 regulatory su... | PPP1R21 | 54 | Annotation score: | ||
F8W7E1 | F8W7E1_HUMAN | Protein phosphatase 1 regulatory su... | PPP1R21 | 40 | Annotation score: | ||
H7C1Y1 | H7C1Y1_HUMAN | Protein phosphatase 1 regulatory su... | PPP1R21 | 116 | Annotation score: |
Sequence cautioni
The sequence AAH11978 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD18739 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 235 | Q → R in BAD18739 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 476 | L → S in BAD18739 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 670 | H → R in BAD18739 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082035 | 143 – 780 | Missing Probable disease-associated variant found in a patient with neurodevelopmental disorder. 1 PublicationAdd BLAST | 638 | |
Natural variantiVAR_082036 | 697 – 780 | Missing Probable disease-associated variant found in a patient with neurodevelopmental disorder. 1 PublicationAdd BLAST | 84 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024984 | 363 – 779 | Missing in isoform 4. 1 PublicationAdd BLAST | 417 | |
Alternative sequenceiVSP_043216 | 534 – 564 | Missing in isoform 5. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_024985 | 566 – 574 | QQSLEKISK → WHWENYGNC in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_024986 | 575 – 780 | Missing in isoform 3. 1 PublicationAdd BLAST | 206 | |
Alternative sequenceiVSP_024987 | 646 – 656 | Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST | 11 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK172753 mRNA Translation: BAD18739.1 Frameshift. AK172762 mRNA Translation: BAD18745.1 AY134855 mRNA Translation: AAN08625.1 AC093635 Genomic DNA Translation: AAX93161.1 CH471053 Genomic DNA Translation: EAX00200.1 BC011978 mRNA Translation: AAH11978.2 Different initiation. BC040721 mRNA Translation: AAH40721.1 BC111059 mRNA Translation: AAI11060.1 BC117279 mRNA Translation: AAI17280.1 BC143463 mRNA Translation: AAI43464.1 BC143466 mRNA Translation: AAI43467.1 |
CCDSi | CCDS1839.1 [Q6ZMI0-2] CCDS46278.1 [Q6ZMI0-1] CCDS54358.1 [Q6ZMI0-5] |
RefSeqi | NP_001129101.1, NM_001135629.2 [Q6ZMI0-1] NP_001180404.1, NM_001193475.1 [Q6ZMI0-5] NP_694539.1, NM_152994.4 [Q6ZMI0-2] |
Genome annotation databases
Ensembli | ENST00000281394; ENSP00000281394; ENSG00000162869 [Q6ZMI0-2] ENST00000294952; ENSP00000294952; ENSG00000162869 [Q6ZMI0-1] ENST00000449090; ENSP00000415696; ENSG00000162869 [Q6ZMI0-5] |
GeneIDi | 129285 |
KEGGi | hsa:129285 |
UCSCi | uc002rwk.4, human [Q6ZMI0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK172753 mRNA Translation: BAD18739.1 Frameshift. AK172762 mRNA Translation: BAD18745.1 AY134855 mRNA Translation: AAN08625.1 AC093635 Genomic DNA Translation: AAX93161.1 CH471053 Genomic DNA Translation: EAX00200.1 BC011978 mRNA Translation: AAH11978.2 Different initiation. BC040721 mRNA Translation: AAH40721.1 BC111059 mRNA Translation: AAI11060.1 BC117279 mRNA Translation: AAI17280.1 BC143463 mRNA Translation: AAI43464.1 BC143466 mRNA Translation: AAI43467.1 |
CCDSi | CCDS1839.1 [Q6ZMI0-2] CCDS46278.1 [Q6ZMI0-1] CCDS54358.1 [Q6ZMI0-5] |
RefSeqi | NP_001129101.1, NM_001135629.2 [Q6ZMI0-1] NP_001180404.1, NM_001193475.1 [Q6ZMI0-5] NP_694539.1, NM_152994.4 [Q6ZMI0-2] |
3D structure databases
SMRi | Q6ZMI0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126187, 39 interactors |
IntActi | Q6ZMI0, 66 interactors |
MINTi | Q6ZMI0 |
STRINGi | 9606.ENSP00000294952 |
PTM databases
GlyConnecti | 2064, 2 N-Linked glycans (1 site) |
GlyGeni | Q6ZMI0, 1 site, 2 N-linked glycans (1 site) |
iPTMneti | Q6ZMI0 |
PhosphoSitePlusi | Q6ZMI0 |
Genetic variation databases
BioMutai | PPP1R21 |
DMDMi | 74710533 |
Proteomic databases
EPDi | Q6ZMI0 |
jPOSTi | Q6ZMI0 |
MassIVEi | Q6ZMI0 |
MaxQBi | Q6ZMI0 |
PaxDbi | Q6ZMI0 |
PeptideAtlasi | Q6ZMI0 |
PRIDEi | Q6ZMI0 |
ProteomicsDBi | 67871 [Q6ZMI0-1] 67872 [Q6ZMI0-2] 67873 [Q6ZMI0-3] 67874 [Q6ZMI0-4] 67875 [Q6ZMI0-5] |
Protocols and materials databases
Antibodypediai | 47409, 96 antibodies |
Genome annotation databases
Ensembli | ENST00000281394; ENSP00000281394; ENSG00000162869 [Q6ZMI0-2] ENST00000294952; ENSP00000294952; ENSG00000162869 [Q6ZMI0-1] ENST00000449090; ENSP00000415696; ENSG00000162869 [Q6ZMI0-5] |
GeneIDi | 129285 |
KEGGi | hsa:129285 |
UCSCi | uc002rwk.4, human [Q6ZMI0-1] |
Organism-specific databases
CTDi | 129285 |
DisGeNETi | 129285 |
GeneCardsi | PPP1R21 |
HGNCi | HGNC:30595, PPP1R21 |
HPAi | ENSG00000162869, Low tissue specificity |
MIMi | 618159, gene |
neXtProti | NX_Q6ZMI0 |
OpenTargetsi | ENSG00000162869 |
PharmGKBi | PA164722001 |
VEuPathDBi | HostDB:ENSG00000162869.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4421, Eukaryota |
GeneTreei | ENSGT00390000006820 |
HOGENOMi | CLU_022372_0_0_1 |
InParanoidi | Q6ZMI0 |
OMAi | KVQIFPI |
OrthoDBi | 1295591at2759 |
PhylomeDBi | Q6ZMI0 |
TreeFami | TF320535 |
Enzyme and pathway databases
PathwayCommonsi | Q6ZMI0 |
Miscellaneous databases
BioGRID-ORCSi | 129285, 5 hits in 868 CRISPR screens |
ChiTaRSi | PPP1R21, human |
GenomeRNAii | 129285 |
Pharosi | Q6ZMI0, Tdark |
PROi | PR:Q6ZMI0 |
RNActi | Q6ZMI0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162869, Expressed in corpus callosum and 208 other tissues |
ExpressionAtlasi | Q6ZMI0, baseline and differential |
Genevisiblei | Q6ZMI0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019348, KLRAQ/TTKRSYEDQ_C IPR040024, PPP1R21 IPR019343, Unchr_KLRAQ/TTKRSYEDQ_N |
PANTHERi | PTHR21448, PTHR21448, 1 hit |
Pfami | View protein in Pfam PF10205, KLRAQ, 1 hit PF10212, TTKRSYEDQ, 1 hit |
SMARTi | View protein in SMART SM01254, KLRAQ, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PPR21_HUMAN | |
Accessioni | Q6ZMI0Primary (citable) accession number: Q6ZMI0 Secondary accession number(s): B7ZKY5 Q96ES8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 1, 2007 |
Last sequence update: | July 5, 2004 | |
Last modified: | February 10, 2021 | |
This is version 135 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot