NOPCHAP1 (NOP protein chaperone 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 121053
Gene name NOP protein chaperone 1
Gene symbol NOPCHAP1
Synonyms (NCBI Gene)
C12orf45DDSR1
Chromosome 12
Chromosome location 12q23.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
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GO ID Ontology Definition Evidence Reference
GO:0000492 Process Box C/D snoRNP assembly IBA
GO:0000492 Process Box C/D snoRNP assembly IEA
GO:0000492 Process Box C/D snoRNP assembly IMP 33367824
GO:0005515 Function Protein binding IPI 33367824, 33961781, 35271311
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5I9
Protein name NOP protein chaperone 1
Protein function Client-loading PAQosome/R2TP complex cofactor that selects NOP58 to promote box C/D small nucleolar ribonucleoprotein (snoRNP) assembly. Acts as a bridge between NOP58 and the R2TP complex via RUVBL1:RUVBL2.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15370 DUF4598 68 → 176 Domain of unknown function (DUF4598) Family
Sequence 
MEVHGKPKASPSCSSPTRDSSGVPVSKELLTAGSDGRGGIWDRLLINSQPKSRKTSTLQT
VRIERSPLLDQVQTFLPQMARANEKLRKEMAAAPPGRFNIENIDGPHSKVIQMDVALFEM
NQSDSKEVDSSEESSQDSSENSSESEDEDDSIPSEVTIDNIKLPNSEGGKGKIEVLDSPA
SKKKK
Sequence length 185
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
NERVOUS SYSTEM DISEASE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for NOPCHAP1.

No additional diseases found yet through genes similar to NOPCHAP1.