Skip Header

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

Q99575

- POP1_HUMAN

UniProt

Q99575 - POP1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Ribonucleases P/MRP protein subunit POP1

Gene

POP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. poly(A) RNA binding Source: UniProtKB
  2. ribonuclease MRP activity Source: UniProtKB
  3. ribonuclease P activity Source: UniProtKB

GO - Biological processi

  1. RNA phosphodiester bond hydrolysis Source: GOC
  2. RNA phosphodiester bond hydrolysis, endonucleolytic Source: GOC
  3. tRNA 5'-leader removal Source: InterPro
  4. tRNA catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

tRNA processing

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:30129. POP1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. nucleolar ribonuclease P complex Source: UniProtKB
  3. ribonuclease MRP complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

Orphaneti93347. Anauxetic dysplasia.
PharmGKBiPA134907403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10241024Ribonucleases P/MRP protein subunit POP1PRO_0000058513Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei367 – 3671Phosphoserine1 Publication
Modified residuei584 – 5841Phosphoserine1 Publication
Modified residuei729 – 7291Phosphoserine1 Publication
Modified residuei730 – 7301Phosphoserine4 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ99575.
PaxDbiQ99575.
PeptideAtlasiQ99575.
PRIDEiQ99575.

PTM databases

PhosphoSiteiQ99575.

Expressioni

Gene expression databases

BgeeiQ99575.
CleanExiHS_POP1.
ExpressionAtlasiQ99575. baseline and differential.
GenevestigatoriQ99575.

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. 60 interactions.
IntActiQ99575. 8 interactions.
MINTiMINT-4537563.
STRINGi9606.ENSP00000339529.

Structurei

3D structure databases

ProteinModelPortaliQ99575.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG297409.
GeneTreeiENSGT00390000017478.
HOGENOMiHOG000013102.
HOVERGENiHBG008232.
InParanoidiQ99575.
KOiK01164.
OMAiKKMRNQP.
OrthoDBiEOG7HF1HN.
PhylomeDBiQ99575.
TreeFamiTF314236.

Family and domain databases

InterProiIPR012590. POPLD.
IPR009723. RNase_P/MRP_POP1.
[Graphical view]
PfamiPF06978. POP1. 1 hit.
PF08170. POPLD. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271S → L.
Corresponds to variant rs3824145 [ dbSNP | Ensembl ].
VAR_057746
Natural varianti460 – 4601E → A.
Corresponds to variant rs2306131 [ dbSNP | Ensembl ].
VAR_057747
Natural varianti522 – 5221K → N.
Corresponds to variant rs17184326 [ dbSNP | Ensembl ].
VAR_057748
Natural varianti583 – 5831G → E Probable disease associated mutation found in a patient with a skeletal dysplasia reminiscent of anauxetic dysplasia. 1 Publication
VAR_067755
Natural varianti675 – 6751E → Q in a breast cancer sample; somatic mutation. 1 Publication
VAR_036232
Natural varianti994 – 9941L → V.
Corresponds to variant rs17856355 [ dbSNP | Ensembl ].
VAR_057749

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Polymorphism databases

DMDMi13124451.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK291434 mRNA. Translation: BAF84123.1 .
CH471060 Genomic DNA. Translation: EAW91776.1 .
X99302 mRNA. Translation: CAA67684.1 .
D31765 mRNA. Translation: BAA06543.1 .
CCDSi CCDS6277.1.
RefSeqi NP_001139332.1. NM_001145860.1.
NP_001139333.1. NM_001145861.1.
NP_055844.2. NM_015029.2.
UniGenei Hs.252828.

3D structure databases

ProteinModelPortali Q99575.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116140. 60 interactions.
IntActi Q99575. 8 interactions.
MINTi MINT-4537563.
STRINGi 9606.ENSP00000339529.

PTM databases

PhosphoSitei Q99575.

Polymorphism databases

DMDMi 13124451.

Proteomic databases

MaxQBi Q99575.
PaxDbi Q99575.
PeptideAtlasi Q99575.
PRIDEi Q99575.

Protocols and materials databases

DNASUi 10940.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000349693 ; ENSP00000339529 ; ENSG00000104356 .
ENST00000401707 ; ENSP00000385787 ; ENSG00000104356 .
GeneIDi 10940.
KEGGi hsa:10940.
UCSCi uc003yij.4. human.

Organism-specific databases

CTDi 10940.
GeneCardsi GC08P099129.
H-InvDB HIX0007674.
HGNCi HGNC:30129. POP1.
MIMi 602486. gene.
neXtProti NX_Q99575.
Orphaneti 93347. Anauxetic dysplasia.
PharmGKBi PA134907403.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297409.
GeneTreei ENSGT00390000017478.
HOGENOMi HOG000013102.
HOVERGENi HBG008232.
InParanoidi Q99575.
KOi K01164.
OMAi KKMRNQP.
OrthoDBi EOG7HF1HN.
PhylomeDBi Q99575.
TreeFami TF314236.

Miscellaneous databases

GeneWikii POP1_(gene).
GenomeRNAii 10940.
NextBioi 41555.
PROi Q99575.
SOURCEi Search...

Gene expression databases

Bgeei Q99575.
CleanExi HS_POP1.
ExpressionAtlasi Q99575. baseline and differential.
Genevestigatori Q99575.

Family and domain databases

InterProi IPR012590. POPLD.
IPR009723. RNase_P/MRP_POP1.
[Graphical view ]
Pfami PF06978. POP1. 1 hit.
PF08170. POPLD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins."
    Lygerou Z., Pluk H., Van Venrooij W.J., Seraphin B.
    EMBO J. 15:5936-5948(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-126.
  4. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
    Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
    DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 122-1024.
    Tissue: Bone marrow.
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-584, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-367 AND SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia."
    Glazov E.A., Zankl A., Donskoi M., Kenna T.J., Thomas G.P., Clark G.R., Duncan E.L., Brown M.A.
    PLoS Genet. 7:E1002027-E1002027(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SKELETAL DYSPLASIA, VARIANT GLU-583.
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729 AND SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-675.

Entry informationi

Entry nameiPOP1_HUMAN
AccessioniPrimary (citable) accession number: Q99575
Secondary accession number(s): A8K5W9, Q15037
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: October 29, 2014
This is version 133 of the entry and version 2 of the sequence. [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

External Data

Dasty 3