RMP64
entrez
25871
canonical
uniprot
Q6NW34
canonical
ensembl
ENSG00000163608
resolver
ensp
ENSP00000320251
resolver
ensp
ENSP00000373173
resolver
ensp
ENSP00000682134
resolver
ensp
ENSP00000742640
resolver
genesymbol
RMP64
resolver
genesymbol_syn
C3orf17
resolver
genesymbol_syn
NEPRO
resolver
hgnc
HGNC:24496
resolver
uniprot
B4DHL5
resolver
uniprot
B4DJ73
resolver
uniprot
B4DUV5
resolver
uniprot
D3DN69
resolver
uniprot
Q68DM6
resolver
uniprot
Q9H7U0
resolver
uniprot
Q9UFM4
resolver
uniprot_entry
B4DHL5_HUMAN
resolver
uniprot_entry
B4DJ73_HUMAN
resolver
uniprot_entry
B4DUV5_HUMAN
resolver
uniprot_entry
RMP64_HUMAN
resolver
uniprot_sec
D3DN69
resolver
uniprot_sec
Q68DM6
resolver
uniprot_sec
Q9H7U0
resolver
uniprot_sec
Q9UFM4
resolver
amino_acid_sequence
MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAALDLCIAAVIKECHLVILSLKSQTLDAETDVLCAVLYSNHNRMGRHKPHLALKQVEQCLKRLKNMNLEGSIQDLFELFSSNENQPLTTKVCVVPSQPVVELVLMKVLGACKLLLRLLDCCCKTFLLTVKHLGLQEFIILNLVMVGLVSRLWVLYKGVLKRLILLYEPLFGLLQEVARIQPMPYFKDFTFPSDITEFLGQPYFEAFKKKMPIAFAAKGINKLLNKLFLINEQSPRASEETLLGISKKAKQMKINVQNNVDLGQPVKNKRVFKEESSEFDVRAFCNQLKHKATQETSFDFKCSQSRLKTTKYSSQKVIGTPHAKSFVQRFREAESFTQLSEEIQMAVVWCRSKKLKAQAIFLGNKLLKSNRLKHLEAQGTSLPKKLECIKTSICNHLLRGSGIKTSKHHLRQRRSQNKFLRRQRKPQRKLQSTLLREIQQFSQGTRKSATDTSAKWRLSHCTVHRTDLYPNSKQLLNSGVSMPVIQTKEKMIHENLRGIHENETDSWTVMQINKNSTSGTIKETDDIDDIFALMGV
uniprot
proteins
disease_involvement
DISEASE: Anauxetic dysplasia 3 (ANXD3) [MIM:618853]: An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. {ECO:0000269|PubMed:26633546, ECO:0000269|PubMed:29620724, ECO:0000269|PubMed:31250547}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing (PubMed:28115465, PubMed:40413743). May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development (By similarity). {ECO:0000250|UniProtKB:Q8R2U2, ECO:0000269|PubMed:28115465, ECO:0000269|PubMed:40413743}.
uniprot
proteins
mass_dalton
64552
uniprot
proteins
protein_family
RMP64 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15096576
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26633546
uniprot
proteins
pubmed
28115465
uniprot
proteins
pubmed
29620724
uniprot
proteins
pubmed
31250547
uniprot
proteins
pubmed
40413743
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:40413743}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q8R2U2}.
uniprot
proteins