POP1
entrez
10940
canonical
uniprot
Q99575
canonical
ensembl
ENSG00000104356
resolver
ensp
ENSP00000339529
resolver
ensp
ENSP00000385787
resolver
ensp
ENSP00000554934
resolver
ensp
ENSP00000554935
resolver
ensp
ENSP00000586510
resolver
enst
ENST00000349693
resolver
enst
ENST00000401707
resolver
enst
ENST00000884875
resolver
enst
ENST00000884876
resolver
enst
ENST00000916451
resolver
genesymbol
POP1
resolver
genesymbol_syn
KIAA0061
resolver
hgnc
HGNC:30129
resolver
uniprot
A8K5W9
resolver
uniprot
Q15037
resolver
uniprot
Q96F88
resolver
uniprot_entry
POP1_HUMAN
resolver
uniprot_entry
Q96F88_HUMAN
resolver
uniprot_sec
A8K5W9
resolver
uniprot_sec
Q15037
resolver
amino_acid_sequence
MSNAKERKHAKKMRNQPTNVTLSSGFVADRGVKHHSGGEKPFQAQKQEPHPGTSRQRQTRVNPHSLPDPEVNEQSSSKGMFRKKGGWKAGPEGTSQEIPKYITASTFAQARAAEISAMLKAVTQKSSNSLVFQTLPRHMRRRAMSHNVKRLPRRLQEIAQKEAEKAVHQKKEHSKNKCHKARRCHMNRTLEFNRRQKKNIWLETHIWHAKRFHMVKKWGYCLGERPTVKSHRACYRAMTNRCLLQDLSYYCCLELKGKEEEILKALSGMCNIDTGLTFAAVHCLSGKRQGSLVLYRVNKYPREMLGPVTFIWKSQRTPGDPSESRQLWIWLHPTLKQDILEEIKAACQCVEPIKSAVCIADPLPTPSQEKSQTELPDEKIGKKRKRKDDGENAKPIKKIIGDGTRDPCLPYSWISPTTGIIISDLTMEMNRFRLIGPLSHSILTEAIKAASVHTVGEDTEETPHRWWIETCKKPDSVSLHCRQEAIFELLGGITSPAEIPAGTILGLTVGDPRINLPQKKSKALPNPEKCQDNEKVRQLLLEGVPVECTHSFIWNQDICKSVTENKISDQDLNRMRSELLVPGSQLILGPHESKIPILLIQQPGKVTGEDRLGWGSGWDVLLPKGWGMAFWIPFIYRGVRVGGLKESAVHSQYKRSPNVPGDFPDCPAGMLFAEEQAKNLLEKYKRRPPAKRPNYVKLGTLAPFCCPWEQLTQDWESRVQAYEEPSVASSPNGKESDLRRSEVPCAPMPKKTHQPSDEVGTSIEHPREAEEVMDAGCQESAGPERITDQEASENHVAATGSHLCVLRSRKLLKQLSAWCGPSSEDSRGGRRAPGRGQQGLTREACLSILGHFPRALVWVSLSLLSKGSPEPHTMICVPAKEDFLQLHEDWHYCGPQESKHSDPFRSKILKQKEKKKREKRQKPGRASSDGPAGEEPVAGQEALTLGLWSGPLPRVTLHCSRTLLGFVTQGDFSMAVGCGEALGFVSLTGLLDMLSSQPAAQRGLVLLRPPASLQYRFARIAIEV
uniprot
proteins
disease_involvement
DISEASE: Anauxetic dysplasia 2 (ANXD2) [MIM:617396]: An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. {ECO:0000269|PubMed:21455487, ECO:0000269|PubMed:27380734, ECO:0000269|PubMed:28067412}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:8918471). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465). {ECO:0000269|PubMed:28115465, ECO:0000269|PubMed:30454648, ECO:0000269|PubMed:8918471}.
uniprot
proteins
mass_dalton
114709
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16723659
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21455487
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27380734
uniprot
proteins
pubmed
28067412
uniprot
proteins
pubmed
28115465
uniprot
proteins
pubmed
30454648
uniprot
proteins
pubmed
7584044
uniprot
proteins
pubmed
8918471
uniprot
proteins
sequence_length
1024
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:8918471}.
uniprot
proteins