RRP7A

Chr 22q13.2

ribosomal RNA processing 7 homolog A

Aliases:: CGI-96, Rrp7
MANE:: ENST00000323013.7

OMIM: 619449 ↗NCBI: 27341 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RRP7A · Q9Y3A4

v62025-08-01

Predicted Aligned Error matrix for RRP7A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

280 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)54%
Low(50–70)16%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.42
microcephaly 28, primary, autosomal recessive
0.33
microcephaly
0.19
cardiac arrest
0.04
hepatocellular carcinoma
0.01
teratocarcinoma
0.01
cancer
0.01
depressive disorder
0.00
colon carcinoma
0.00
schizophrenia
0.00

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ribosomal RNA-processing protein 7 homolog A

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 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 associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)