Gene Gene information from NCBI Gene database.
Entrez ID 55813
Gene name UTP6 small subunit processome component
Gene symbol UTP6
Synonyms (NCBI Gene)
C17orf40HCA66
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT028657 hsa-miR-30a-5p Proteomics 18668040
MIRT032485 hsa-let-7b-5p Proteomics 18668040
MIRT051727 hsa-let-7d-5p CLASH 23622248
MIRT651797 hsa-miR-483-5p HITS-CLIP 23824327
MIRT651786 hsa-miR-411-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0005515 Function Protein binding IPI 28514442, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620948 18279 ENSG00000108651
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYH9
Protein name U3 small nucleolar RNA-associated protein 6 homolog (Hepatocellular carcinoma-associated antigen 66) (Multiple hat domains protein)
Protein function Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08640 U3_assoc_6 9 91 U3 small nucleolar RNA-associated protein 6 Family
Sequence
MAEIIQERIEDRLPELEQLERIGLFSHAEIKAIIKKASDLEYKIQRRTLFKEDFINYVQY
EINLLELIQRRRTRIGYSFKKDEIENSIVHR
VQGVFQRASAKWKDDVQLWLSYVAFCKKW
ATKTRLSKVFSAMLAIHSNKPALWIMAAKWEMEDRLSSESARQLFLRALRFHPECPKLYK
EYFRMELMHAEKLRKEKEEFEKASMDVENPDYSEEILKGELAWIIYKNSVSIIKGAEFHV
SLLSIAQLFDFAKDLQKEIYDDLQALHTDDPLTWDYVARRELEIESQTEEQPTTKQAKAV
EVGRKEERCCAVYEEAVKTLPTEAMWKCYITFCLERFTKKSNSGFLRGKRLERTMTVFRK
AHELKLLSECQYKQLSVSLLCYNFLREALEVAVAGTELFRDSGTMWQLKLQVLIESKSPD
IAMLFEEAFVHLKPQVCLPLWISWAEWSEGAKSQEDTEAVFKKALLAVIGADSVTLKNKY
LDWAYRSGGYKKARAVFKSLQESRPFSVDFFRKMIQFEKEQESCNMANIREYYERALREF
GSADSDLWMDYMKEELNHPLGRPENCGQIYWRAMKMLQGESAEAFVAKHAMHQTGHL
Sequence length 597
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Intellectual Disability Intellectual developmental disorder Pubtator 11468690 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 17380155
★☆☆☆☆
Found in Text Mining only
Neurofibromatosis 1 Neurofibromatosis BEFREE 17380155, 31703719
★☆☆☆☆
Found in Text Mining only
NF1 Microdeletion Syndrome NF1 Microdeletion Syndrome BEFREE 17380155
★☆☆☆☆
Found in Text Mining only