RRP7A
entrez
27341
canonical
uniprot
Q9Y3A4
canonical
ensembl
ENSG00000189306
resolver
ensp
ENSP00000321449
resolver
ensp
ENSP00000520815
resolver
enst
ENST00000323013
resolver
enst
ENST00000718430
resolver
genesymbol
RRP7A
resolver
hgnc
HGNC:24286
resolver
uniprot
A4FTX2
resolver
uniprot
B2RBG4
resolver
uniprot
Q0VAD0
resolver
uniprot
Q5JZ94
resolver
uniprot
Q6P4B5
resolver
uniprot
Q8IVR9
resolver
uniprot
Q8IVY0
resolver
uniprot
Q8N5Q3
resolver
uniprot
Q8NEY6
resolver
uniprot
Q9Y3H5
resolver
uniprot_entry
RRP7A_HUMAN
resolver
uniprot_sec
A4FTX2
resolver
uniprot_sec
B2RBG4
resolver
uniprot_sec
Q0VAD0
resolver
uniprot_sec
Q5JZ94
resolver
uniprot_sec
Q6P4B5
resolver
uniprot_sec
Q8IVR9
resolver
uniprot_sec
Q8IVY0
resolver
uniprot_sec
Q8N5Q3
resolver
uniprot_sec
Q8NEY6
resolver
uniprot_sec
Q9Y3H5
resolver
amino_acid_sequence
MVARRRKCAARDPEDRIPSPLGYAAIPIKFSEKQQASHYLYVRAHGVRQGTKSTWPQKRTLFVLNVPPYCTEESLSRLLSTCGLVQSVELQEKPDLAESPKESRSKFFHPKPVPGFQVAYVVFQKPSGVSAALALKGPLLVSTESHPVKSGIHKWISDYADSVPDPEALRVEVDTFMEAYDQKIAEEEAKAKEEEGVPDEEGWVKVTRRGRRPVLPRTEAASLRVLERERRKRSRKELLNFYAWQHRESKMEHLAQLRKKFEEDKQRIELLRAQRKFRPY
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 28, primary, autosomal recessive (MCPH28) [MIM:619453]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. {ECO:0000269|PubMed:33199730}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 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). {ECO:0000269|PubMed:33199730, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
32334
uniprot
proteins
protein_family
RRP7 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12087473
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
33199730
uniprot
proteins
pubmed
34516797
uniprot
proteins
sequence_length
280
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:33199730, ECO:0000269|PubMed:34516797}. Cell projection, cilium {ECO:0000269|PubMed:33199730}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:33199730}.
uniprot
proteins