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Q99575 (POP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ribonucleases P/MRP protein subunit POP1

Short name=hPOP1
EC=3.1.26.5
Gene names
Name:POP1
Synonyms:KIAA0061
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1024 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

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

Subcellular location

Nucleusnucleolus.

Involvement in disease

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

POP4O957072EBI-366741,EBI-366477

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10241024Ribonucleases P/MRP protein subunit POP1
PRO_0000058513

Amino acid modifications

Modified residue3671Phosphoserine Ref.7
Modified residue5841Phosphoserine Ref.6
Modified residue7291Phosphoserine Ref.13
Modified residue7301Phosphoserine Ref.7 Ref.9 Ref.10 Ref.13

Natural variations

Natural variant1271S → L.
Corresponds to variant rs3824145 [ dbSNP | Ensembl ].
VAR_057746
Natural variant4601E → A.
Corresponds to variant rs2306131 [ dbSNP | Ensembl ].
VAR_057747
Natural variant5221K → N.
Corresponds to variant rs17184326 [ dbSNP | Ensembl ].
VAR_057748
Natural variant5831G → E Probable disease associated mutation found in a patient with a skeletal dysplasia reminiscent of anauxetic dysplasia. Ref.12
VAR_067755
Natural variant6751E → Q in a breast cancer sample; somatic mutation. Ref.14
VAR_036232
Natural variant9941L → V.
Corresponds to variant rs17856355 [ dbSNP | Ensembl ].
VAR_057749

Sequences

Sequence LengthMass (Da)Tools
Q99575 [UniParc].

Last modified February 21, 2001. Version 2.
Checksum: A1DB872F3B940C02

FASTA1,024114,709
        10         20         30         40         50         60 
MSNAKERKHA KKMRNQPTNV TLSSGFVADR GVKHHSGGEK PFQAQKQEPH PGTSRQRQTR 

        70         80         90        100        110        120 
VNPHSLPDPE VNEQSSSKGM FRKKGGWKAG PEGTSQEIPK YITASTFAQA RAAEISAMLK 

       130        140        150        160        170        180 
AVTQKSSNSL VFQTLPRHMR RRAMSHNVKR LPRRLQEIAQ KEAEKAVHQK KEHSKNKCHK 

       190        200        210        220        230        240 
ARRCHMNRTL EFNRRQKKNI WLETHIWHAK RFHMVKKWGY CLGERPTVKS HRACYRAMTN 

       250        260        270        280        290        300 
RCLLQDLSYY CCLELKGKEE EILKALSGMC NIDTGLTFAA VHCLSGKRQG SLVLYRVNKY 

       310        320        330        340        350        360 
PREMLGPVTF IWKSQRTPGD PSESRQLWIW LHPTLKQDIL EEIKAACQCV EPIKSAVCIA 

       370        380        390        400        410        420 
DPLPTPSQEK SQTELPDEKI GKKRKRKDDG ENAKPIKKII GDGTRDPCLP YSWISPTTGI 

       430        440        450        460        470        480 
IISDLTMEMN RFRLIGPLSH SILTEAIKAA SVHTVGEDTE ETPHRWWIET CKKPDSVSLH 

       490        500        510        520        530        540 
CRQEAIFELL GGITSPAEIP AGTILGLTVG DPRINLPQKK SKALPNPEKC QDNEKVRQLL 

       550        560        570        580        590        600 
LEGVPVECTH SFIWNQDICK SVTENKISDQ DLNRMRSELL VPGSQLILGP HESKIPILLI 

       610        620        630        640        650        660 
QQPGKVTGED RLGWGSGWDV LLPKGWGMAF WIPFIYRGVR VGGLKESAVH SQYKRSPNVP 

       670        680        690        700        710        720 
GDFPDCPAGM LFAEEQAKNL LEKYKRRPPA KRPNYVKLGT LAPFCCPWEQ LTQDWESRVQ 

       730        740        750        760        770        780 
AYEEPSVASS PNGKESDLRR SEVPCAPMPK KTHQPSDEVG TSIEHPREAE EVMDAGCQES 

       790        800        810        820        830        840 
AGPERITDQE ASENHVAATG SHLCVLRSRK LLKQLSAWCG PSSEDSRGGR RAPGRGQQGL 

       850        860        870        880        890        900 
TREACLSILG HFPRALVWVS LSLLSKGSPE PHTMICVPAK EDFLQLHEDW HYCGPQESKH 

       910        920        930        940        950        960 
SDPFRSKILK QKEKKKREKR QKPGRASSDG PAGEEPVAGQ EALTLGLWSG PLPRVTLHCS 

       970        980        990       1000       1010       1020 
RTLLGFVTQG DFSMAVGCGE ALGFVSLTGL LDMLSSQPAA QRGLVLLRPP ASLQYRFARI 


AIEV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-584, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-675.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK291434 mRNA. Translation: BAF84123.1.
CH471060 Genomic DNA. Translation: EAW91776.1.
X99302 mRNA. Translation: CAA67684.1.
D31765 mRNA. Translation: BAA06543.1.
CCDSCCDS6277.1.
RefSeqNP_001139332.1. NM_001145860.1.
NP_001139333.1. NM_001145861.1.
NP_055844.2. NM_015029.2.
UniGeneHs.252828.

3D structure databases

ProteinModelPortalQ99575.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116140. 32 interactions.
IntActQ99575. 8 interactions.
MINTMINT-4537563.
STRING9606.ENSP00000339529.

PTM databases

PhosphoSiteQ99575.

Polymorphism databases

DMDM13124451.

Proteomic databases

MaxQBQ99575.
PaxDbQ99575.
PeptideAtlasQ99575.
PRIDEQ99575.

Protocols and materials databases

DNASU10940.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349693; ENSP00000339529; ENSG00000104356.
ENST00000401707; ENSP00000385787; ENSG00000104356.
GeneID10940.
KEGGhsa:10940.
UCSCuc003yij.4. human.

Organism-specific databases

CTD10940.
GeneCardsGC08P099129.
H-InvDBHIX0007674.
HGNCHGNC:30129. POP1.
MIM602486. gene.
neXtProtNX_Q99575.
Orphanet93347. Anauxetic dysplasia.
PharmGKBPA134907403.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297409.
HOGENOMHOG000013102.
HOVERGENHBG008232.
InParanoidQ99575.
KOK01164.
OMAKKMRNQP.
OrthoDBEOG7HF1HN.
PhylomeDBQ99575.
TreeFamTF314236.

Gene expression databases

ArrayExpressQ99575.
BgeeQ99575.
CleanExHS_POP1.
GenevestigatorQ99575.

Family and domain databases

InterProIPR012590. POPLD.
IPR009723. RNase_P/MRP_POP1.
[Graphical view]
PfamPF06978. POP1. 1 hit.
PF08170. POPLD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPOP1_(gene).
GenomeRNAi10940.
NextBio41555.
PROQ99575.
SOURCESearch...

Entry information

Entry namePOP1_HUMAN
AccessionPrimary (citable) accession number: Q99575
Secondary accession number(s): A8K5W9, Q15037
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: July 9, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM