RNPC3
entrez
55599
canonical
uniprot
Q96LT9
canonical
ensembl
ENSG00000185946
resolver
ensp
ENSP00000391432
resolver
genesymbol
RNPC3
resolver
genesymbol_syn
KIAA1839
resolver
genesymbol_syn
RBM40
resolver
genesymbol_syn
RNP
resolver
genesymbol_syn
SNRNP65
resolver
hgnc
HGNC:18666
resolver
uniprot
A8K1C9
resolver
uniprot
D3DT74
resolver
uniprot
Q5TZ87
resolver
uniprot
Q96FK7
resolver
uniprot
Q96JI8
resolver
uniprot
Q9NSU7
resolver
uniprot
Q9NXX2
resolver
uniprot_entry
RNPC3_HUMAN
resolver
uniprot_sec
A8K1C9
resolver
uniprot_sec
D3DT74
resolver
uniprot_sec
Q5TZ87
resolver
uniprot_sec
Q96FK7
resolver
uniprot_sec
Q96JI8
resolver
uniprot_sec
Q9NSU7
resolver
uniprot_sec
Q9NXX2
resolver
amino_acid_sequence
MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKEDLLKYFGAQSVRVLSDKGRLKHTAFATFPNEKAAIKALTRLHQLKLLGHTLVVEFAKEQDRVHSPCPTSGSEKKKRSDDPVEDDKEKKELGYLTVENGIAPNHGLTFPLNSCLKYMYPPPSSTILANIVNALASVPKFYVQVLHLMNKMNLPTPFGPITARPPMYEDYMPLHAPLPPTSPQPPEEPPLPDEDEELSSEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQRHVRKKRKIKDMLNTPLCPSHSSLHPVLLPSDVFDQPQPVGNKRIEFHISTDMPAAFKKDLEKEQNCEEKNHDLPATEVDASNIGFGKIFPKPNLDITEEIKEDSDEMPSECISRRELEKGRISREEMETLSVFRSYEPGEPNCRIYVKNLAKHVQEKDLKYIFGRYVDFSSETQRIMFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGKPMVVQFARSARPKQDPKEGKRKC
uniprot
proteins
disease_involvement
DISEASE: Pituitary hormone deficiency, combined or isolated, 7 (CPHD7) [MIM:618160]: An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary. {ECO:0000269|PubMed:24480542, ECO:0000269|PubMed:29255062}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA. {ECO:0000269|PubMed:16096647, ECO:0000269|PubMed:19447915, ECO:0000269|PubMed:24480542, ECO:0000269|PubMed:29255062}.
uniprot
proteins
mass_dalton
58575
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14974681
uniprot
proteins
pubmed
15146077
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16096647
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19447915
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24480542
uniprot
proteins
pubmed
29255062
uniprot
proteins
sequence_length
517
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14974681}.
uniprot
proteins