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Protein

Periodic tryptophan protein 2 homolog

Gene

PWP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • snoRNA binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ15269.

Names & Taxonomyi

Protein namesi
Recommended name:
Periodic tryptophan protein 2 homolog
Gene namesi
Name:PWP2
Synonyms:PWP2H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:9711. PWP2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162400451.

Polymorphism and mutation databases

BioMutaiPWP2.
DMDMi116242740.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 919919Periodic tryptophan protein 2 homologPRO_0000051175Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei898 – 8981PhosphoserineBy similarity
Modified residuei902 – 9021PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15269.
MaxQBiQ15269.
PaxDbiQ15269.
PeptideAtlasiQ15269.
PRIDEiQ15269.

2D gel databases

SWISS-2DPAGEQ15269.

PTM databases

iPTMnetiQ15269.
PhosphoSiteiQ15269.
SwissPalmiQ15269.

Expressioni

Gene expression databases

BgeeiQ15269.
CleanExiHS_PWP2.
ExpressionAtlasiQ15269. baseline and differential.
GenevisibleiQ15269. HS.

Organism-specific databases

HPAiHPA024573.

Interactioni

Protein-protein interaction databases

BioGridi111780. 41 interactions.
IntActiQ15269. 14 interactions.
MINTiMINT-1411448.
STRINGi9606.ENSP00000291576.

Structurei

3D structure databases

ProteinModelPortaliQ15269.
SMRiQ15269. Positions 19-643.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati12 – 5039WD 1Add
BLAST
Repeati53 – 9341WD 2Add
BLAST
Repeati94 – 13239WD 3Add
BLAST
Repeati142 – 18140WD 4Add
BLAST
Repeati186 – 22540WD 5Add
BLAST
Repeati286 – 32540WD 6Add
BLAST
Repeati328 – 36841WD 7Add
BLAST
Repeati371 – 41040WD 8Add
BLAST
Repeati413 – 45240WD 9Add
BLAST
Repeati456 – 49843WD 10Add
BLAST
Repeati499 – 53840WD 11Add
BLAST
Repeati541 – 58040WD 12Add
BLAST
Repeati603 – 64240WD 13Add
BLAST
Repeati700 – 74041WD 14Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi240 – 2478Poly-Glu

Sequence similaritiesi

Belongs to the WD repeat PWP2 family.Curated
Contains 14 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0291. Eukaryota.
ENOG410XP2P. LUCA.
GeneTreeiENSGT00550000074981.
HOGENOMiHOG000160363.
HOVERGENiHBG030681.
InParanoidiQ15269.
KOiK14558.
OMAiRDSSTKI.
OrthoDBiEOG76QFH0.
PhylomeDBiQ15269.
TreeFamiTF300853.

Family and domain databases

Gene3Di2.130.10.10. 4 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR027145. PWP2.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR007148. SSU_processome_Utp12.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR19858. PTHR19858. 1 hit.
PfamiPF04003. Utp12. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q15269-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKFAYRFSNL LGTVYRRGNL NFTCDGNSVI SPVGNRVTVF DLKNNKSDTL
60 70 80 90 100
PLATRYNVKC VGLSPDGRLA IIVDEGGDAL LVSLVCRSVL HHFHFKGSVH
110 120 130 140 150
SVSFSPDGRK FVVTKGNIAQ MYHAPGKKRE FNAFVLDKTY FGPYDETTCI
160 170 180 190 200
DWTDDSRCFV VGSKDMSTWV FGAERWDNLI YYALGGHKDA IVACFFESNS
210 220 230 240 250
LDLYSLSQDG VLCMWQCDTP PEGLRLKPPA GWKADLLQRE EEEEEEEDQE
260 270 280 290 300
GDRETTIRGK ATPAEEEKTG KVKYSRLAKY FFNKEGDFNN LTAAAFHKKS
310 320 330 340 350
HLLVTGFASG IFHLHELPEF NLIHSLSISD QSIASVAINS SGDWIAFGCS
360 370 380 390 400
GLGQLLVWEW QSESYVLKQQ GHFNSMVALA YSPDGQYIVT GGDDGKVKVW
410 420 430 440 450
NTLSGFCFVT FTEHSSGVTG VTFTATGYVV VTSSMDGTVR AFDLHRYRNF
460 470 480 490 500
RTFTSPRPTQ FSCVAVDASG EIVSAGAQDS FEIFVWSMQT GRLLDVLSGH
510 520 530 540 550
EGPISGLCFN PMKSVLASAS WDKTVRLWDM FDSWRTKETL ALTSDALAVT
560 570 580 590 600
FRPDGAELAV ATLNSQITFW DPENAVQTGS IEGRHDLKTG RKELDKITAK
610 620 630 640 650
HAAKGKAFTA LCYSADGHSI LAGGMSKFVC IYHVREQILM KRFEISCNLS
660 670 680 690 700
LDAMEEFLNR RKMTEFGNLA LIDQDAGQED GVAIPLPGVR KGDMSSRHFK
710 720 730 740 750
PEIRVTSLRF SPTGRCWAAT TTEGLLIYSL DTRVLFDPFE LDTSVTPGRV
760 770 780 790 800
REALRQQDFT RAILMALRLN ESKLVQEALE AVPRGEIEVV TSSLPELYVE
810 820 830 840 850
KVLEFLASSF EVSRHLEFYL LWTHKLLMLH GQKLKSRAGT LLPVIQFLQK
860 870 880 890 900
SIQRHLDDLS KLCSWNHYNM QYALAVSKQR GTKRSLDPLG SEEEAEASED
910
DSLHLLGGGG RDSEEEMLA
Length:919
Mass (Da):102,452
Last modified:October 17, 2006 - v2
Checksum:iB2A94C5595DF4380
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti719 – 7191A → G in CAA64560 (PubMed:8661145).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251D → N.7 Publications
Corresponds to variant rs2020945 [ dbSNP | Ensembl ].
VAR_028104
Natural varianti174 – 1741E → K.
Corresponds to variant rs35001460 [ dbSNP | Ensembl ].
VAR_053412
Natural varianti551 – 5511F → I.1 Publication
Corresponds to variant rs17856422 [ dbSNP | Ensembl ].
VAR_028105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95263 mRNA. Translation: CAA64560.1.
X96424 Genomic DNA. Translation: CAA65284.1.
X96425 Genomic DNA. Translation: CAA65285.1.
U53346 mRNA. Translation: AAB08084.1.
U56085 mRNA. Translation: AAC50904.1.
U56089
, U56086, U56087, U56088 Genomic DNA. Translation: AAC50905.1.
AB001517 Genomic DNA. Translation: BAA21137.1.
AK314184 mRNA. Translation: BAG36865.1.
AP001753 Genomic DNA. Translation: BAA95553.1.
CH471079 Genomic DNA. Translation: EAX09458.1.
BC013309 mRNA. Translation: AAH13309.1.
BC014988 mRNA. Translation: AAH14988.1.
AB001523 Genomic DNA. Translation: BAA21100.1.
CCDSiCCDS33579.1.
RefSeqiNP_005040.2. NM_005049.2.
XP_006723973.1. XM_006723910.1.
XP_011507205.1. XM_011508903.1.
UniGeneiHs.449076.

Genome annotation databases

EnsembliENST00000291576; ENSP00000291576; ENSG00000241945.
GeneIDi102724159.
5822.
KEGGihsa:102724159.
hsa:5822.
UCSCiuc002zeb.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95263 mRNA. Translation: CAA64560.1.
X96424 Genomic DNA. Translation: CAA65284.1.
X96425 Genomic DNA. Translation: CAA65285.1.
U53346 mRNA. Translation: AAB08084.1.
U56085 mRNA. Translation: AAC50904.1.
U56089
, U56086, U56087, U56088 Genomic DNA. Translation: AAC50905.1.
AB001517 Genomic DNA. Translation: BAA21137.1.
AK314184 mRNA. Translation: BAG36865.1.
AP001753 Genomic DNA. Translation: BAA95553.1.
CH471079 Genomic DNA. Translation: EAX09458.1.
BC013309 mRNA. Translation: AAH13309.1.
BC014988 mRNA. Translation: AAH14988.1.
AB001523 Genomic DNA. Translation: BAA21100.1.
CCDSiCCDS33579.1.
RefSeqiNP_005040.2. NM_005049.2.
XP_006723973.1. XM_006723910.1.
XP_011507205.1. XM_011508903.1.
UniGeneiHs.449076.

3D structure databases

ProteinModelPortaliQ15269.
SMRiQ15269. Positions 19-643.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111780. 41 interactions.
IntActiQ15269. 14 interactions.
MINTiMINT-1411448.
STRINGi9606.ENSP00000291576.

PTM databases

iPTMnetiQ15269.
PhosphoSiteiQ15269.
SwissPalmiQ15269.

Polymorphism and mutation databases

BioMutaiPWP2.
DMDMi116242740.

2D gel databases

SWISS-2DPAGEQ15269.

Proteomic databases

EPDiQ15269.
MaxQBiQ15269.
PaxDbiQ15269.
PeptideAtlasiQ15269.
PRIDEiQ15269.

Protocols and materials databases

DNASUi5822.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291576; ENSP00000291576; ENSG00000241945.
GeneIDi102724159.
5822.
KEGGihsa:102724159.
hsa:5822.
UCSCiuc002zeb.4. human.

Organism-specific databases

CTDi5822.
GeneCardsiPWP2.
H-InvDBHIX0213175.
HGNCiHGNC:9711. PWP2.
HPAiHPA024573.
MIMi601475. gene.
neXtProtiNX_Q15269.
PharmGKBiPA162400451.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0291. Eukaryota.
ENOG410XP2P. LUCA.
GeneTreeiENSGT00550000074981.
HOGENOMiHOG000160363.
HOVERGENiHBG030681.
InParanoidiQ15269.
KOiK14558.
OMAiRDSSTKI.
OrthoDBiEOG76QFH0.
PhylomeDBiQ15269.
TreeFamiTF300853.

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ15269.

Miscellaneous databases

ChiTaRSiPWP2. human.
GeneWikiiPWP2.
PROiQ15269.
SOURCEiSearch...

Gene expression databases

BgeeiQ15269.
CleanExiHS_PWP2.
ExpressionAtlasiQ15269. baseline and differential.
GenevisibleiQ15269. HS.

Family and domain databases

Gene3Di2.130.10.10. 4 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR027145. PWP2.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR007148. SSU_processome_Utp12.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR19858. PTHR19858. 1 hit.
PfamiPF04003. Utp12. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3."
    Lalioti M.D., Chen H., Rossier C., Reid J.D., Antonarakis S.E.
    Genomics 35:321-327(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT ASN-25.
  2. "A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3."
    Yamakawa K., Gao D.-Q., Korenberg J.R.
    Cytogenet. Cell Genet. 74:140-145(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-25.
  3. "Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3."
    Lafreniere R.G., Rochefort D.L., Chretien N., Neville C.E., Korneluk R.G., Zuo L., Wei Y., Lichter J., Rouleau G.A.
    Genome Res. 6:1216-1226(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT ASN-25.
  4. "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21."
    Nagamine K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Ito F., Shimizu N.
    Genomics 42:528-531(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "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], VARIANT ASN-25.
    Tissue: Brain.
  6. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-25.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-25 AND ILE-551.
    Tissue: Muscle.
  9. "Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3."
    Nagamine K., Kudoh J., Kawasaki K., Minoshima S., Asakawa S., Ito F., Shimizu N.
    Biochem. Biophys. Res. Commun. 235:185-190(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-43, VARIANT ASN-25.
  10. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiPWP2_HUMAN
AccessioniPrimary (citable) accession number: Q15269
Secondary accession number(s): B2RAG8, Q96A77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 8, 2016
This is version 157 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 21
    Human chromosome 21: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.