RRP12
entrez
23223
canonical
uniprot
Q5JTH9
canonical
ensembl
ENSG00000052749
resolver
ensp
ENSP00000324315
resolver
ensp
ENSP00000360031
resolver
ensp
ENSP00000414863
resolver
genesymbol
RRP12
resolver
genesymbol_syn
KIAA0690
resolver
hgnc
HGNC:29100
resolver
uniprot
B3KMR5
resolver
uniprot
B4DK00
resolver
uniprot
E9PCK7
resolver
uniprot
Q5JTH8
resolver
uniprot
Q69YK4
resolver
uniprot
Q96E87
resolver
uniprot
Q9BUH3
resolver
uniprot
Q9Y4C7
resolver
uniprot_entry
B3KMR5_HUMAN
resolver
uniprot_entry
RRP12_HUMAN
resolver
uniprot_sec
B4DK00
resolver
uniprot_sec
E9PCK7
resolver
uniprot_sec
Q5JTH8
resolver
uniprot_sec
Q69YK4
resolver
uniprot_sec
Q96E87
resolver
uniprot_sec
Q9BUH3
resolver
uniprot_sec
Q9Y4C7
resolver
amino_acid_sequence
MGRSGKLPSGVSAKLKRWKKGHSSDSNPAICRHRQAARSRFFSRPSGRSDLTVDAVKLHNELQSGSLRLGKSEAPETPMEEEAELVLTEKSSGTFLSGLSDCTNVTFSKVQRFWESNSAAHKEICAVLAAVTEVIRSQGGKETETEYFAALMTTMEAVESPESLAAVAYLLNLVLKRVPSPVLIKKFSDTSKAFMDIMSAQASSGSTSVLRWVLSCLATLLRKQDLEAWGYPVTLQVYHGLLSFTVHPKPKIRKAAQHGVCSVLKGSEFMFEKAPAHHPAAISTAKFCIQEIEKSGGSKEATTTLHMLTLLKDLLPCFPEGLVKSCSETLLRVMTLSHVLVTACAMQAFHSLFHARPGLSTLSAELNAQIITALYDYVPSENDLQPLLAWLKVMEKAHINLVRLQWDLGLGHLPRFFGTAVTCLLSPHSQVLTAATQSLKEILKECVAPHMADIGSVTSSASGPAQSVAKMFRAVEEGLTYKFHAAWSSVLQLLCVFFEACGRQAHPVMRKCLQSLCDLRLSPHFPHTAALDQAVGAAVTSMGPEVVLQAVPLEIDGSEETLDFPRSWLLPVIRDHVQETRLGFFTTYFLPLANTLKSKAMDLAQAGSTVESKIYDTLQWQMWTLLPGFCTRPTDVAISFKGLARTLGMAISERPDLRVTVCQALRTLITKGCQAEADRAEVSRFAKNFLPILFNLYGQPVAAGDTPAPRRAVLETIRTYLTITDTQLVNSLLEKASEKVLDPASSDFTRLSVLDLVVALAPCADEAAISKLYSTIRPYLESKAHGVQKKAYRVLEEVCASPQGPGALFVQSHLEDLKKTLLDSLRSTSSPAKRPRLKCLLHIVRKLSAEHKEFITALIPEVILCTKEVSVGARKNAFALLVEMGHAFLRFGSNQEEALQCYLVLIYPGLVGAVTMVSCSILALTHLLFEFKGLMGTSTVEQLLENVCLLLASRTRDVVKSALGFIKVAVTVMDVAHLAKHVQLVMEAIGKLSDDMRRHFRMKLRNLFTKFIRKFGFELVKRLLPEEYHRVLVNIRKAEARAKRHRALSQAAVEEEEEEEEEEEPAQGKGDSIEEILADSEDEEDNEEEERSRGKEQRKLARQRSRAWLKEGGGDEPLNFLDPKVAQRVLATQPGPGRGRKKDHGFKVSADGRLIIREEADGNKMEEEEGAKGEDEEMADPMEDVIIRNKKHQKLKHQKEAEEEELEIPPQYQAGGSGIHRPVAKKAMPGAEYKAKKAKGDVKKKGRPDPYAYIPLNRSKLNRRKKMKLQGQFKGLVKAARRGSQVGHKNRRKDRRP
uniprot
proteins
disease_involvement
DISEASE: Basal ganglia calcification, idiopathic, 11, autosomal recessive (IBGC11) [MIM:621452]: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. IBGC11 is characterized by brain calcifications associated with variable neurologic phenotypes ranging from infantile-onset progressive generalized dystonia and spasticity to adult-onset ataxia and cognitive impairment is a progressive form characterized by motor dysfunction, speech impairment, and impaired cognition. {ECO:0000269|PubMed:41059649}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in the nucleoplasmic stage of pre-40S ribosomal subunit assembly, functioning as a scaffold for assembly factors and preparing pre-40S particles for export from the nucleus to the cytoplasm. {ECO:0000269|PubMed:36321656}.
uniprot
proteins
mass_dalton
143702
uniprot
proteins
protein_family
RRP12 family
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
36321656
uniprot
proteins
pubmed
41059649
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:41059649}. Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 903..923; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins