| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP. CATALYTIC ACTIVITY: Endonucleolytic cleavage of RNA, removing 5'- extranucleotides from tRNA precursor. SUBUNIT: RNase P consists of a RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40. SUBCELLULAR LOCATION: Nucleus, nucleolus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=Defects in POP1 may be the cause of a severe skeletal dysplasia reminiscent of anauxetic dysplasia. Affected individuals show severe growth retardation of prenatal onset, a bone dysplasia affecting the epiphyses and metaphyses of the long bones particularly in the lower limbs, and abnormalities of the spine including irregularly shaped vertebral bodies and marked cervical spine instability. GENE SYNONYMS:POP1 KIAA0061. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1024 AA; 114709 MW; A1DB872F3B940C02 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:30129,
urn:biopax:RelationshipXref:NCBI GENE_10940,
urn:biopax:RelationshipXref:REFSEQ_NP_001139332,
urn:biopax:RelationshipXref:REFSEQ_NP_001139333,
urn:biopax:RelationshipXref:REFSEQ_NP_055844,
urn:biopax:UnificationXref:UNIPROT_A8K5W9,
urn:biopax:UnificationXref:UNIPROT_Q15037,
urn:biopax:UnificationXref:UNIPROT_Q99575
|
| biopax3:displayName |
POP1_HUMAN
|
| biopax3:name |
3.1.26.5,
POP1,
hPOP1
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:POP1_HUMAN_1,
urn:biopax:ModificationFeature:POP1_HUMAN_2,
urn:biopax:ModificationFeature:POP1_HUMAN_3,
urn:biopax:ModificationFeature:POP1_HUMAN_4,
urn:biopax:ModificationFeature:POP1_HUMAN_5,
urn:biopax:ModificationFeature:POP1_HUMAN_6,
urn:biopax:ModificationFeature:POP1_HUMAN_7,
urn:biopax:ModificationFeature:POP1_HUMAN_8
|
| biopax3:organism | |
| biopax3:sequence |
MSNAKERKHAKKMRNQPTNVTLSSGFVADRGVKHHSGGEKPFQAQKQEPHPGTSRQRQTRVNPHSLPDPEVNEQSSSKGMFRKKGGWKAGPEGTSQEIPKYITASTFAQARAAEISAMLKAVTQKSSNSLVFQTLPRHMRRRAMSHNVKRLPRRLQEIAQKEAEKAVHQKKEHSKNKCHKARRCHMNRTLEFNRRQKKNIWLETHIWHAKRFHMVKKWGYCLGERPTVKSHRACYRAMTNRCLLQDLSYYCCLELKGKEEEILKALSGMCNIDTGLTFAAVHCLSGKRQGSLVLYRVNKYPREMLGPVTFIWKSQRTPGDPSESRQLWIWLHPTLKQDILEEIKAACQCVEPIKSAVCIADPLPTPSQEKSQTELPDEKIGKKRKRKDDGENAKPIKKIIGDGTRDPCLPYSWISPTTGIIISDLTMEMNRFRLIGPLSHSILTEAIKAASVHTVGEDTEETPHRWWIETCKKPDSVSLHCRQEAIFELLGGITSPAEIPAGTILGLTVGDPRINLPQKKSKALPNPEKCQDNEKVRQLLLEGVPVECTHSFIWNQDICKSVTENKISDQDLNRMRSELLVPGSQLILGPHESKIPILLIQQPGKVTGEDRLGWGSGWDVLLPKGWGMAFWIPFIYRGVRVGGLKESAVHSQYKRSPNVPGDFPDCPAGMLFAEEQAKNLLEKYKRRPPAKRPNYVKLGTLAPFCCPWEQLTQDWESRVQAYEEPSVASSPNGKESDLRRSEVPCAPMPKKTHQPSDEVGTSIEHPREAEEVMDAGCQESAGPERITDQEASENHVAATGSHLCVLRSRKLLKQLSAWCGPSSEDSRGGRRAPGRGQQGLTREACLSILGHFPRALVWVSLSLLSKGSPEPHTMICVPAKEDFLQLHEDWHYCGPQESKHSDPFRSKILKQKEKKKREKRQKPGRASSDGPAGEEPVAGQEALTLGLWSGPLPRVTLHCSRTLLGFVTQGDFSMAVGCGEALGFVSLTGLLDMLSSQPAAQRGLVLLRPPASLQYRFARIAIEV
|
| biopax3:standardName |
Ribonucleases P/MRP protein subunit POP1
|