ID:NHP2_HUMAN DESCRIPTION: RecName: Full=H/ACA ribonucleoprotein complex subunit 2; AltName: Full=Nucleolar protein family A member 2; AltName: Full=snoRNP protein NHP2; 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. 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. 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). SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies). 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. DEVELOPMENTAL STAGE: Transcript peaks at G1/S transition. DISEASE: Defects in NHP2 are the cause of dyskeratosis congenita autosomal recessive type 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. SIMILARITY: Belongs to the ribosomal protein L7Ae family. SEQUENCE CAUTION: Sequence=AAF28964.1; Type=Frameshift; Positions=37, 119, 120;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NX24
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AF401217 - Homo sapiens NHP2-like protein mRNA, partial cds. AK000486 - Homo sapiens cDNA FLJ20479 fis, clone KAT07382. BC000009 - Homo sapiens NHP2 ribonucleoprotein homolog (yeast), mRNA (cDNA clone MGC:1038 IMAGE:3505294), complete cds. AF161404 - Homo sapiens HSPC286 mRNA, partial cds. AJ293309 - Homo sapiens mRNA for NHP2 protein. BC006387 - Homo sapiens NHP2 ribonucleoprotein homolog (yeast), mRNA (cDNA clone MGC:13306 IMAGE:4109843), complete cds. JD314398 - Sequence 295422 from Patent EP1572962. AF401219 - Homo sapiens small nucleolar RNA binding-like protein NHP2 mRNA, complete cds. JD121582 - Sequence 102606 from Patent EP1572962. DL492461 - Novel nucleic acids. DL490938 - Novel nucleic acids. KJ894227 - Synthetic construct Homo sapiens clone ccsbBroadEn_03621 NHP2 gene, encodes complete protein. KR709795 - Synthetic construct Homo sapiens clone CCSBHm_00006143 NHP2 (NHP2) mRNA, encodes complete protein. KR709796 - Synthetic construct Homo sapiens clone CCSBHm_00006144 NHP2 (NHP2) mRNA, encodes complete protein. CR457238 - Homo sapiens full open reading frame cDNA clone RZPDo834A069D for gene NOLA2, nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs); complete cds, incl. stopcodon. DQ600392 - Homo sapiens piRNA piR-38458, complete sequence. DQ596835 - Homo sapiens piRNA piR-34901, complete sequence. JD020228 - Sequence 1252 from Patent EP1572962. JD030499 - Sequence 11523 from Patent EP1572962. JD025846 - Sequence 6870 from Patent EP1572962. JD035005 - Sequence 16029 from Patent EP1572962. JD467317 - Sequence 448341 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NX24 (Reactome details) participates in the following event(s):
R-HSA-6790905 Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
