InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NHP2

Summary

InnateDB Protein

IDBP-60780.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NHP2

Protein Name

NHP2 ribonucleoprotein homolog (yeast)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000274606

InnateDB Gene

IDBG-60778 (NHP2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15044956}.

Subcellular Localization

Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).

Disease Associations

Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]: 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. {ECO:0000269PubMed:18523010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver. {ECO:0000269PubMed:12020816}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.

Experimentally validated
Total	29 [view]
Protein-Protein	29 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0030515	snoRNA binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0031118

rRNA pseudouridine synthesis

Cellular Component

GO:0005634	nucleus
GO:0005732	small nucleolar ribonucleoprotein complex
GO:0005737	cytoplasm
GO:0015030	Cajal body

Protein Structure and Domains

PDB ID

InterPro

IPR002415 H/ACA ribonucleoprotein complex, subunit Nhp2, eukaryote
IPR004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45
IPR018492 Ribosomal protein L7Ae/L8/Nhp2 family
IPR029064 50S ribosomal protein L30e-like

PFAM

PF01248

PRINTS

PR00883
PR00881

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NX24