Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Ribonucleases P/MRP protein subunit POP1

Gene

POP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP.

Catalytic activityi

Endonucleolytic cleavage of RNA, removing 5'-extranucleotides from tRNA precursor.

GO - Molecular functioni

  • ribonuclease MRP activity Source: UniProtKB
  • ribonuclease P activity Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

  • tRNA 5'-leader removal Source: FlyBase
  • tRNA catabolic process Source: UniProtKB
  • tRNA processing Source: GO_Central

Keywordsi

Molecular functionHydrolase
Biological processtRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6784531 tRNA processing in the nucleus

Names & Taxonomyi

Protein namesi
Recommended name:
Ribonucleases P/MRP protein subunit POP1 (EC:3.1.26.5)
Short name:
hPOP1
Gene namesi
Name:POP1
Synonyms:KIAA0061
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104356.10
HGNCiHGNC:30129 POP1
MIMi602486 gene
neXtProtiNX_Q99575

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Anauxetic dysplasia 2 (ANXD2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617396
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078770511D → Y in ANXD2. 1 PublicationCorresponds to variant dbSNP:rs1060505025Ensembl.1
Natural variantiVAR_078771582P → S in ANXD2. 2 PublicationsCorresponds to variant dbSNP:rs1060505023Ensembl.1
Natural variantiVAR_067755583G → E in ANXD2. 1 PublicationCorresponds to variant dbSNP:rs374828868EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi10940
MalaCardsiPOP1
MIMi617396 phenotype
OpenTargetsiENSG00000104356
Orphaneti93347 Anauxetic dysplasia
PharmGKBiPA134907403

Polymorphism and mutation databases

BioMutaiPOP1
DMDMi13124451

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000585131 – 1024Ribonucleases P/MRP protein subunit POP1Add BLAST1024

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei367PhosphoserineCombined sources1
Modified residuei584PhosphoserineCombined sources1
Modified residuei729PhosphoserineCombined sources1
Modified residuei730PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99575
MaxQBiQ99575
PaxDbiQ99575
PeptideAtlasiQ99575
PRIDEiQ99575
ProteomicsDBi78334

PTM databases

iPTMnetiQ99575
PhosphoSitePlusiQ99575
SwissPalmiQ99575

Expressioni

Gene expression databases

BgeeiENSG00000104356
CleanExiHS_POP1
ExpressionAtlasiQ99575 baseline and differential
GenevisibleiQ99575 HS

Organism-specific databases

HPAiHPA066194

Interactioni

Subunit structurei

RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40.

Binary interactionsi

WithEntry#Exp.IntActNotes
POP4O957072EBI-366741,EBI-366477

Protein-protein interaction databases

BioGridi116140, 93 interactors
CORUMiQ99575
IntActiQ99575, 35 interactors
MINTiQ99575
STRINGi9606.ENSP00000339529

Structurei

3D structure databases

ProteinModelPortaliQ99575
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3322 Eukaryota
ENOG410XT8N LUCA
GeneTreeiENSGT00390000017478
HOGENOMiHOG000013102
HOVERGENiHBG008232
InParanoidiQ99575
KOiK01164
OMAiKHAKKMR
OrthoDBiEOG091G0BX3
PhylomeDBiQ99575
TreeFamiTF314236

Family and domain databases

InterProiView protein in InterPro
IPR039182 Pop1
IPR009723 Pop1_N
IPR012590 POPLD_dom
PANTHERiPTHR22731 PTHR22731, 1 hit
PfamiView protein in Pfam
PF06978 POP1, 2 hits
PF08170 POPLD, 1 hit

Sequencei

Sequence statusi: Complete.

Q99575-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSNAKERKHA KKMRNQPTNV TLSSGFVADR GVKHHSGGEK PFQAQKQEPH
60 70 80 90 100
PGTSRQRQTR VNPHSLPDPE VNEQSSSKGM FRKKGGWKAG PEGTSQEIPK
110 120 130 140 150
YITASTFAQA RAAEISAMLK AVTQKSSNSL VFQTLPRHMR RRAMSHNVKR
160 170 180 190 200
LPRRLQEIAQ KEAEKAVHQK KEHSKNKCHK ARRCHMNRTL EFNRRQKKNI
210 220 230 240 250
WLETHIWHAK RFHMVKKWGY CLGERPTVKS HRACYRAMTN RCLLQDLSYY
260 270 280 290 300
CCLELKGKEE EILKALSGMC NIDTGLTFAA VHCLSGKRQG SLVLYRVNKY
310 320 330 340 350
PREMLGPVTF IWKSQRTPGD PSESRQLWIW LHPTLKQDIL EEIKAACQCV
360 370 380 390 400
EPIKSAVCIA DPLPTPSQEK SQTELPDEKI GKKRKRKDDG ENAKPIKKII
410 420 430 440 450
GDGTRDPCLP YSWISPTTGI IISDLTMEMN RFRLIGPLSH SILTEAIKAA
460 470 480 490 500
SVHTVGEDTE ETPHRWWIET CKKPDSVSLH CRQEAIFELL GGITSPAEIP
510 520 530 540 550
AGTILGLTVG DPRINLPQKK SKALPNPEKC QDNEKVRQLL LEGVPVECTH
560 570 580 590 600
SFIWNQDICK SVTENKISDQ DLNRMRSELL VPGSQLILGP HESKIPILLI
610 620 630 640 650
QQPGKVTGED RLGWGSGWDV LLPKGWGMAF WIPFIYRGVR VGGLKESAVH
660 670 680 690 700
SQYKRSPNVP GDFPDCPAGM LFAEEQAKNL LEKYKRRPPA KRPNYVKLGT
710 720 730 740 750
LAPFCCPWEQ LTQDWESRVQ AYEEPSVASS PNGKESDLRR SEVPCAPMPK
760 770 780 790 800
KTHQPSDEVG TSIEHPREAE EVMDAGCQES AGPERITDQE ASENHVAATG
810 820 830 840 850
SHLCVLRSRK LLKQLSAWCG PSSEDSRGGR RAPGRGQQGL TREACLSILG
860 870 880 890 900
HFPRALVWVS LSLLSKGSPE PHTMICVPAK EDFLQLHEDW HYCGPQESKH
910 920 930 940 950
SDPFRSKILK QKEKKKREKR QKPGRASSDG PAGEEPVAGQ EALTLGLWSG
960 970 980 990 1000
PLPRVTLHCS RTLLGFVTQG DFSMAVGCGE ALGFVSLTGL LDMLSSQPAA
1010 1020
QRGLVLLRPP ASLQYRFARI AIEV
Length:1,024
Mass (Da):114,709
Last modified:February 21, 2001 - v2
Checksum:iA1DB872F3B940C02
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057746127S → L. Corresponds to variant dbSNP:rs3824145Ensembl.1
Natural variantiVAR_057747460E → A. Corresponds to variant dbSNP:rs2306131Ensembl.1
Natural variantiVAR_078770511D → Y in ANXD2. 1 PublicationCorresponds to variant dbSNP:rs1060505025Ensembl.1
Natural variantiVAR_057748522K → N. Corresponds to variant dbSNP:rs17184326Ensembl.1
Natural variantiVAR_078771582P → S in ANXD2. 2 PublicationsCorresponds to variant dbSNP:rs1060505023Ensembl.1
Natural variantiVAR_067755583G → E in ANXD2. 1 PublicationCorresponds to variant dbSNP:rs374828868EnsemblClinVar.1
Natural variantiVAR_036232675E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057749994L → V. Corresponds to variant dbSNP:rs17856355Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK291434 mRNA Translation: BAF84123.1
CH471060 Genomic DNA Translation: EAW91776.1
X99302 mRNA Translation: CAA67684.1
D31765 mRNA Translation: BAA06543.1
CCDSiCCDS6277.1
RefSeqiNP_001139332.1, NM_001145860.1
NP_001139333.1, NM_001145861.1
NP_055844.2, NM_015029.2
UniGeneiHs.252828

Genome annotation databases

EnsembliENST00000349693; ENSP00000339529; ENSG00000104356
ENST00000401707; ENSP00000385787; ENSG00000104356
GeneIDi10940
KEGGihsa:10940
UCSCiuc003yij.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPOP1_HUMAN
AccessioniPrimary (citable) accession number: Q99575
Secondary accession number(s): A8K5W9, Q15037
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: July 18, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health