Q9NPE3 (NOP10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
H/ACA ribonucleoprotein complex subunit 3

Alternative name(s):
Nucleolar protein 10
Nucleolar protein family A member 3
snoRNP protein NOP10

Gene names

Name:	NOP10
Synonyms:	NOLA3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	64 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. 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. Ref.4
Subunit structure	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. 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. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Ref.3 Ref.5
Subcellular location	Nucleus › nucleolus. Nucleus › Cajal body. Note: Also localized to Cajal bodies (coiled bodies). Ref.3
Involvement in disease	Defects in NOP10 are a cause of dyskeratosis congenita autosomal recessive type 1 (DKCB1) [MIM:224230]. A 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. Ref.7
Sequence similarities	Belongs to the NOP10 family.

Ontologies

Keywords
Biological process	Ribosome biogenesis rRNA processing
Cellular component	Nucleus
Disease	Disease mutation Dyskeratosis congenita
Molecular function	Ribonucleoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	pseudouridine synthesis Non-traceable author statement. Source: UniProtKB rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell small nucleolar ribonucleoprotein complex Traceable author statement. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction Ref.5. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 64	64	H/ACA ribonucleoprotein complex subunit 3		PRO_0000149001
Natural variations
	Natural variant	34	1	R → W in DKCB1. Ref.7		VAR_043725

Sequences

	Sequence		Length	Mass (Da)
	Q9NPE3 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 62E9BCFFB27036FA	FASTA	64	7,706
	10 20 30 40 50 60 MFLQYYLNEQ GDRVYTLKKF DPMGQQTCSA HPARFSPDDK YSRHRITIKK RFKVLMTQQP RPVL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Toji S., Yano M., Tamai K. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: B-cell and Pancreas.
[3]	"Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10." Pogacic V., Dragon F., Filipowicz W. Mol. Cell. Biol. 20:9028-9040(2000) [PubMed: 11074001] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH GAR1; NHP2 AND DCK1.
[4]	"Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins." Wang C., Meier U.T. EMBO J. 23:1857-1867(2004) [PubMed: 15044956] [Abstract] Cited for: FUNCTION, CHARACTERIZATION OF THE H/ACA SNORNP COMPLEX.
[5]	"hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase." Hoareau-Aveilla C., Bonoli M., Caizergues-Ferrer M., Henry Y. RNA 12:832-840(2006) [PubMed: 16601202] [Abstract] Cited for: INTERACTION WITH NAF1.
[6]	"A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis." Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E. Science 323:644-648(2009) [PubMed: 19179534] [Abstract] Cited for: IDENTIFICATION IN THE TELOMERASE HOLOENZYME COMPLEX.
[7]	"Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10." Walne A.J., Vulliamy T., Marrone A., Beswick R., Kirwan M., Masunari Y., Al-Qurashi F.-H., Aljurf M., Dokal I. Hum. Mol. Genet. 16:1619-1629(2007) [PubMed: 17507419] [Abstract] Cited for: VARIANT DKCB1 TRP-34.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB043103 Genomic DNA. Translation: BAA96107.1. AB043104 mRNA. Translation: BAA96133.1. BC008886 mRNA. Translation: AAH08886.1. BC063023 mRNA. Translation: AAH63023.1.
IPI	IPI00032853.
RefSeq	NP_061118.1. NM_018648.3.
UniGene	Hs.14317.
3D structure databases
ProteinModelPortal	Q9NPE3.
SMR	Q9NPE3. Positions 1-58.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NPE3. 4 interactions.
STRING	Q9NPE3.
Polymorphism databases
DMDM	54036209.
Proteomic databases
PeptideAtlas	Q9NPE3.
PRIDE	Q9NPE3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000328848; ENSP00000332198; ENSG00000182117.
GeneID	55505.
KEGG	hsa:55505.
UCSC	uc001zie.1. human.
Organism-specific databases
CTD	55505.
GeneCards	GC15M034633.
H-InvDB	HIX0012091.
HGNC	HGNC:14378. NOP10.
MIM	224230. phenotype. 606471. gene.
neXtProt	NX_Q9NPE3.
Orphanet	1775. Dyskeratosis congenita.
PharmGKB	PA164723973.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21437.
GeneTree	ENSGT00390000012563.
HOGENOM	HBG498094.
HOVERGEN	HBG080280.
InParanoid	Q9NPE3.
OMA	VYTLKKV.
OrthoDB	EOG4RR6K2.
PhylomeDB	Q9NPE3.
Gene expression databases
ArrayExpress	Q9NPE3.
Bgee	Q9NPE3.
CleanEx	HS_NOP10.
Genevestigator	Q9NPE3.
GermOnline	ENSG00000182117. Homo sapiens.
Family and domain databases
InterPro	IPR007264. H/ACA_rnp_Nop10. [Graphical view]
KO	K11130.
PANTHER	PTHR13305. Nop10p_RNA_bd. 1 hit.
Pfam	PF04135. Nop10p. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	59899.
SOURCE	Search...

Entry information

Entry name

NOP10_HUMAN

Accession

Primary (citable) accession number: Q9NPE3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2004
Last sequence update:	October 1, 2000
Last modified:	January 25, 2012
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.