Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
dyskerin (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
dyskerin Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Isomerase; RNA processing; Nucleolus; Lyase; EC 5.4.99.-; RNA binding protein
Cellular Component: nucleoplasm; Cajal body; telomerase holoenzyme complex; cytoplasm; nucleolus; nucleus
Molecular Function: telomerase activity; protein binding; pseudouridine synthase activity; RNA binding
Biological Process: RNA processing; cell proliferation; pseudouridine synthesis; telomere maintenance via telomerase; telomere maintenance; rRNA processing
Reference #:  O60832 (UniProtKB)
Alt. Names/Synonyms: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKC1; dyskeratosis congenita 1, dyskerin; Dyskerin; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; NAP57; NOLA4; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Gene Symbols: DKC1
Molecular weight: 57,674 Da
Basal Isoelectric point: 9.46  Predict pI for various phosphorylation states
Select Structure to View Below

dyskerin

Protein Structure Not Found.


STRING  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene


Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K12-ac EVIILPKkHkKKKER
0 1 K14-ac IILPKkHkKKKERks
0 1 K20-ub HkKKKERksLPEEDV
0 15 S21-p kKKKERksLPEEDVA
0 1 K39-ac HAEEFLIkPESkVAk
1 0 K39-sm HAEEFLIkPESkVAk
0 2 K39-ub HAEEFLIkPESkVAk
1 0 K43-sm FLIkPESkVAkLDTS
0 5 K46-ac kPESkVAkLDTSQWP
0 3 K46-ub kPESkVAkLDTSQWP
0 1 K57-ub SQWPLLLkNFDkLNV
0 5 K61-ac LLLkNFDkLNVRTTH
0 1 T89 EIGDYIRTGFINLDK
0 1 S98 FINLDKPSNPSSHEV
0 1 S102 DKPSNPSSHEVVAWI
0 1 T118 RILRVEKTGHSGTLD
0 1 S121 RVEKTGHSGTLDPKV
0 1 T123 EKTGHSGTLDPKVTG
0 2 K151-ub KSQQSAGkEyVGIVR
0 4 Y153-p QQSAGkEyVGIVRLH
0 1 K191-ub PPLIAAVkRQLRVRT
0 1 Y200-p QLRVRTIyESKMIEY
0 1 Y376 VIMERDTYPRKWGLG
0 1 S387-p WGLGPKAsQKKLMIk
0 1 K389 LGPKAsQKKLMIkQG
0 1 K394-ub sQKKLMIkQGLLDKH
0 1 Y416-p PATWKQEyVDysEsA
0 5 Y419-p WKQEyVDysEsAKKE
0 3 S420-p KQEyVDysEsAKKEV
0 3 S422-p EyVDysEsAKKEVVA
0 1 K433-ac EVVAEVVkAPQVVAE
0 1 K446-ac AEAAKTAkRKREsEs
0 50 S451-p TAkRKREsEsEsDEt
0 51 S453-p kRKREsEsEsDEtPP
0 37 S455-p KREsEsEsDEtPPAA
0 21 T458-p sEsEsDEtPPAAPQL
0 1 K472-ac LIKKEKKkSkkDkKA
0 1 K474-ac KKEKKkSkkDkKAKA
0 1 K475-ac KEKKkSkkDkKAKAG
0 1 K477-ac KKkSkkDkKAKAGLE
0 4 A481 kkDkKAKAGLEsGAE
0 33 S485-p KAKAGLEsGAEPGDG
0 11 P489 GLEsGAEPGDGDsDt
0 34 S494-p AEPGDGDsDttKKKK
0 5 T496-p PGDGDsDttKKKKKK
0 5 T497-p GDGDsDttKKKKKKK
0 38 S513-p AKEVELVsE______
  mouse

 
K12 EVITFPKKHKKKKDR
K14 ITFPKKHKKKKDRKP
K20 HKKKKDRKPLQEDDV
P21 KKKKDRKPLQEDDVA
K39 HAEEFLIKPESKVAQ
K39 HAEEFLIKPESKVAQ
K39 HAEEFLIKPESKVAQ
K43 FLIKPESKVAQLDTS
Q46 KPESKVAQLDTSQWP
Q46 KPESKVAQLDTSQWP
K57 SQWPLLLKNFDKLNV
K61 LLLKNFDKLNVRTAH
T89-p EIGDYIRtGFINLDK
S98-p FINLDKPsNPSsHEV
S102-p DKPsNPSsHEVVAWI
T118-p RILRVEKtGHsGtLD
S121-p RVEKtGHsGtLDPKV
T123-p EKtGHsGtLDPKVTG
K151 KSQQSAGKEYVGIVR
Y153 QQSAGKEYVGIVRLH
K191 PPLIAAVKRQLRVRT
Y200 QLRVRTIYESKMIEY
Y376-p VIMERDTyPRKWGLG
S387 WGLGPKASQkKMMIK
K389-ac LGPKASQkKMMIKQG
K394 SQkKMMIKQGLLDKH
Y416 PATWKQDYIDYsDSG
Y419 WKQDYIDYsDSGKNT
S420-p KQDYIDYsDSGKNTL
S422 DYIDYsDSGKNTLVT
Q433 TLVTEAVQAPQLAAE
K446 AEAVNVIKRKRDsEs
S451-p VIKRKRDsEsEsDEt
S453-p KRKRDsEsEsDEtPT
S455-p KRDsEsEsDEtPTVP
T458-p sEsEsDEtPTVPQLK
- gap
K470 QLKEKKKKKDKKPKt
K471 LKEKKKKKDKKPKtV
K473 EKKKKKDKKPKtVLE
T477-p KKDKKPKtVLEsGGE
S481-p KPKtVLEsGGEtGDG
T485-p VLEsGGEtGDGDNDT
N490 GEtGDGDNDTTKKKK
T492 tGDGDNDTTKKKKKK
T493 GDGDNDTTKKKKKKK
S508-p VKVVEEMsE______
  rat

 
K13 AAMTFPKKHKKKKER
K15 MTFPKKHKKKKERKP
K21 HKKKKERKPLPEADV
P22 KKKKERKPLPEADVA
K40 HAEDFLIKPESKAAQ
K40 HAEDFLIKPESKAAQ
K40 HAEDFLIKPESKAAQ
K44 FLIKPESKAAQLDTS
Q47 KPESKAAQLDTSQWP
Q47 KPESKAAQLDTSQWP
K58 SQWPLLLKNFDRLNV
R62 LLLKNFDRLNVRTTH
T90 EIGEYVRTGFINLDK
S99 FINLDKPSNPSSHEV
S103 DKPSNPSSHEVVAWI
T119 RILRVEKTGHSGTLD
S122 RVEKTGHSGTLDPKV
T124 EKTGHSGTLDPKVTG
K152 KSQQSAGKEYVGVVR
Y154 QQSAGKEYVGVVRLH
K192 PPLIAAVKRQLRVRT
Y201 QLRVRTIYESRVVEY
Y377 VIMERDTYPRKWGLG
S388 WGLGPKASQKKQLIK
K390 LGPKASQKKQLIKQG
K395 SQKKQLIKQGLLDKH
Y417 PASWTRDYVDYSDSS
Y420 WTRDYVDYSDSSKKA
S421 TRDYVDYSDSSKKAT
S423 DYVDYSDSSKKATAA
P434 ATAAEATPGPGVTAD
K447 ADAASIVKRKRDsDs
S452-p IVKRKRDsDsDADEA
S454-p KRKRDsDsDADEAtP
A456 KRDsDsDADEAtPTT
T460-p DsDADEAtPTTTPRV
- gap
K472 PRVKKEKKKKKEKAD
K473 RVKKEKKKKKEKADG
K475 KKEKKKKKEKADGGE
D479 KKKKEKADGGEEAAE
E483 EKADGGEEAAEDGDG
- gap
G490 EAAEDGDGDATRKKK
A492 AEDGDGDATRKKKKK
T493 EDGDGDATRKKKKKK
S508 ARAAEELSG______
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.