RRP7A (ribosomal RNA processing 7 homolog A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 27341
Gene name Ribosomal RNA processing 7 homolog A
Gene symbol RRP7A
Synonyms (NCBI Gene)
BK126B4.3CGI-96MCPH28Rrp7
Chromosome 22
Chromosome location 22q13.2
miRNA miRNA information provided by mirtarbase database.
820
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (820)
miRTarBase ID miRNA Experiments Reference
MIRT032420 hsa-let-7b-5p Proteomics 18668040
MIRT045999 hsa-miR-125b-5p CLASH 23622248
MIRT043534 hsa-miR-331-3p CLASH 23622248
MIRT037840 hsa-miR-455-3p CLASH 23622248
MIRT707427 hsa-miR-6514-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000028 Process Ribosomal small subunit assembly IBA
GO:0001825 Process Blastocyst formation IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
619449 24286 ENSG00000189306
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3A4
Protein name Ribosomal RNA-processing protein 7 homolog A (Gastric cancer antigen Zg14)
Protein function Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development (PubMed:33199730). Part of the small sub
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17799 RRM_Rrp7 20 → 105 Rrp7 RRM-like N-terminal domain Domain
PF12923 RRP7 160 → 280 Ribosomal RNA-processing protein 7 (RRP7) C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the apical radial glial cells in the developing brain. {ECO:0000269|PubMed:33199730}.
Sequence
Sequence length 280
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly 28, primary, autosomal recessive Pathogenic rs1356719738 RCV001542462
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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
Uterine corpus endometrial carcinoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations