Q9NPE3 · NOP10_HUMAN
- ProteinH/ACA ribonucleoprotein complex subunit 3
- GeneNOP10
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502).
This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme
This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | box H/ACA scaRNP complex | |
Cellular Component | box H/ACA snoRNP complex | |
Cellular Component | box H/ACA telomerase RNP complex | |
Cellular Component | nuclear body | |
Cellular Component | nucleoplasm | |
Cellular Component | sno(s)RNA-containing ribonucleoprotein complex | |
Cellular Component | telomerase holoenzyme complex | |
Molecular Function | box H/ACA snoRNA binding | |
Molecular Function | RNA binding | |
Molecular Function | telomerase RNA binding | |
Biological Process | positive regulation of telomerase RNA localization to Cajal body | |
Biological Process | pseudouridine synthesis | |
Biological Process | rRNA pseudouridine synthesis | |
Biological Process | snRNA pseudouridine synthesis | |
Biological Process | telomere maintenance via telomerase |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameH/ACA ribonucleoprotein complex subunit 3
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NPE3
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Also localized to Cajal bodies (coiled bodies).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Dyskeratosis congenita, autosomal recessive, 1 (DKCB1)
- Note
- DescriptionA rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
- See alsoMIM:224230
Natural variants in DKCB1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_043725 | 34 | R>W | in DKCB1; dbSNP:rs121908092 |
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2)
- Note
- DescriptionAn autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood.
- See alsoMIM:620425
Natural variants in CHINE2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088625 | 16 | T>M | in CHINE2; likely pathogenic; decreased rRNA pseudouridine synthesis in peripheral blood cells from a homozagous patient; reduced protein abundance in homozygous patient cells; no effect on interaction with DKC1 |
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9 (PFBMFT9)
- Note
- DescriptionAn autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation.
- See alsoMIM:620400
Natural variants in PFBMFT9
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088624 | 6 | Y>C | in PFBMFT9; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_088624 | 6 | in PFBMFT9; uncertain significance | |||
Sequence: Y → C | ||||||
Natural variant | VAR_088625 | 16 | in CHINE2; likely pathogenic; decreased rRNA pseudouridine synthesis in peripheral blood cells from a homozagous patient; reduced protein abundance in homozygous patient cells; no effect on interaction with DKC1 | |||
Sequence: T → M | ||||||
Natural variant | VAR_043725 | 34 | in DKCB1; dbSNP:rs121908092 | |||
Sequence: R → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 81 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000149001 | 1-64 | UniProt | H/ACA ribonucleoprotein complex subunit 3 | |||
Sequence: MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQPRPVL | |||||||
Modified residue (large scale data) | 36 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit (PubMed:11074001).
The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1 (PubMed:11074001).
The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:16601202).
During assembly, the complex contains NAF1 instead of GAR1/NOLA1 (PubMed:11074001, PubMed:16601202).
The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs (PubMed:11074001, PubMed:16601202).
Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2 (PubMed:11074001, PubMed:16601202).
Associates with NOLC1/NOPP140 (PubMed:11074001, PubMed:16601202).
H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4 (PubMed:11074001, PubMed:16601202).
This is mediated by interaction between GAR1 and SMN1 or SMN2 (PubMed:11074001, PubMed:16601202).
The SMN complex may be required for correct assembly of the H/ACA snoRNP complex (PubMed:11074001, PubMed:16601202).
Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:29695869).
The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534).
The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1 (PubMed:11074001).
The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:16601202).
During assembly, the complex contains NAF1 instead of GAR1/NOLA1 (PubMed:11074001, PubMed:16601202).
The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs (PubMed:11074001, PubMed:16601202).
Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2 (PubMed:11074001, PubMed:16601202).
Associates with NOLC1/NOPP140 (PubMed:11074001, PubMed:16601202).
H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4 (PubMed:11074001, PubMed:16601202).
This is mediated by interaction between GAR1 and SMN1 or SMN2 (PubMed:11074001, PubMed:16601202).
The SMN complex may be required for correct assembly of the H/ACA snoRNP complex (PubMed:11074001, PubMed:16601202).
Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:29695869).
The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9NPE3 | CABP2 Q9NPB3 | 3 | EBI-1642169, EBI-12011224 | |
BINARY | Q9NPE3 | MEOX2 Q6FHY5 | 3 | EBI-1642169, EBI-16439278 | |
BINARY | Q9NPE3 | NHP2 Q9NX24 | 12 | EBI-1642169, EBI-1050064 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length64
- Mass (Da)7,706
- Last updated2000-10-01 v1
- Checksum62E9BCFFB27036FA
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YM60 | H0YM60_HUMAN | NOP10 | 36 | ||
A0A8V8TQE5 | A0A8V8TQE5_HUMAN | NOP10 | 65 | ||
A0A8V8TQE9 | A0A8V8TQE9_HUMAN | NOP10 | 72 | ||
A0A8V8TQT0 | A0A8V8TQT0_HUMAN | NOP10 | 59 | ||
A0A8V8TPD4 | A0A8V8TPD4_HUMAN | NOP10 | 58 | ||
A0A8V8TPK8 | A0A8V8TPK8_HUMAN | NOP10 | 42 | ||
A0A8V8TP28 | A0A8V8TP28_HUMAN | NOP10 | 55 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB043103 EMBL· GenBank· DDBJ | BAA96107.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AB043104 EMBL· GenBank· DDBJ | BAA96133.1 EMBL· GenBank· DDBJ | mRNA | ||
BC008886 EMBL· GenBank· DDBJ | AAH08886.1 EMBL· GenBank· DDBJ | mRNA | ||
BC063023 EMBL· GenBank· DDBJ | AAH63023.1 EMBL· GenBank· DDBJ | mRNA |