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Protein Page:
dyskerin (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitylation
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylation
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: EC 5.4.99.-; RNA-binding; Lyase; Isomerase; Nucleolus; RNA processing
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: nucleolus; nucleoplasm; nucleus; telomerase holoenzyme complex
Molecular Function: protein binding; pseudouridine synthase activity; RNA binding; telomerase activity
Biological Process: box H/ACA snoRNA 3'-end processing; cell proliferation; positive regulation of telomerase activity; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance via telomerase
Disease: Dyskeratosis Congenita, X-linked
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
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

dyskerin

Protein Structure Not Found.


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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



 LTP 

LTP: 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.


 HTP 

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


       human

► Hide Isoforms
 
0 1 K12‑ac EVIILPKkHkKKKER
0 1 K14‑ac IILPKkHkKKKERks
0 1 K20‑ub HkKKKERksLPEEDV
0 29 S21‑p kKKKERksLPEEDVA
0 1 K39‑ac HAEEFLIkPESkVAk
1 0 K39‑sm HAEEFLIkPESkVAk
0 3 K39‑ub HAEEFLIkPESkVAk
1 0 K43‑sm FLIkPESkVAkLDTS
0 5 K46‑ac kPESkVAkLDTSQWP
0 4 K46‑ub kPESkVAkLDTSQWP
0 1 K57‑ub SQWPLLLkNFDkLNV
0 5 K61‑ac LLLkNFDkLNVRTTH
0 1 K61‑ub LLLkNFDkLNVRTTH
0 1 K80‑ub ACGSNPLkREIGDYI
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 3 K151‑ub KSQQSAGkEyVGIVR
0 5 Y153‑p QQSAGkEyVGIVRLH
0 2 K191‑ub PPLIAAVkRQLRVRT
0 1 Y200‑p QLRVRTIyESKMIEY
0 1 K302‑ub SHKRLVMkDSAVNAI
0 1 Y376 VIMERDTYPRKWGLG
0 1 K379 ERDTYPRKWGLGPKA
0 3 S387‑p WGLGPKAsQKKLMIk
0 1 K389 LGPKAsQKKLMIkQG
0 1 K394‑ub sQKKLMIkQGLLDKH
0 1 K394‑sm sQKKLMIkQGLLDKH
0 1 K413‑sm DSTPATWkQEyVDys
0 2 Y416‑p PATWkQEyVDysEsA
0 6 Y419‑p WkQEyVDysEsAKKE
0 4 S420‑p kQEyVDysEsAKKEV
0 4 S422‑p EyVDysEsAKKEVVA
0 1 K433‑ac EVVAEVVkAPQVVAE
0 1 K446‑ac AEAAKTAkRKREsEs
0 71 S451‑p TAkRKREsEsEsDEt
0 73 S453‑p kRKREsEsEsDEtPP
0 54 S455‑p KREsEsEsDEtPPAA
0 30 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 50 S485‑p KAKAGLEsGAEPGDG
0 14 P489 GLEsGAEPGDGDsDt
0 55 S494‑p AEPGDGDsDttKKKK
0 9 T496‑p PGDGDsDttKKKKKK
0 9 T497‑p GDGDsDttKKKKKKK
0 64 S513‑p AKEVELVsE______
  dyskerin iso2  
K12 EVIILPKKHKKKKER
K14 IILPKKHKKKKERKS
K20 HKKKKERKSLPEEDV
S21 KKKKERKSLPEEDVA
K39 HAEEFLIKPESKVAK
K39 HAEEFLIKPESKVAK
K39 HAEEFLIKPESKVAK
K43 FLIKPESKVAKLDTS
K46 KPESKVAKLDTSQWP
K46 KPESKVAKLDTSQWP
K57 SQWPLLLKNFDKLNV
K61 LLLKNFDKLNVRTTH
K61 LLLKNFDKLNVRTTH
K80 ACGSNPLKREIGDYI
T89 EIGDYIRTGFINLDK
S98 FINLDKPSNPSSHEV
S102 DKPSNPSSHEVVAWI
T118 RILRVEKTGHSGTLD
S121 RVEKTGHSGTLDPKV
T123 EKTGHSGTLDPKVTG
K151 KSQQSAGKEYVGIVR
Y153 QQSAGKEYVGIVRLH
K191 PPLIAAVKRQLRVRT
Y200 QLRVRTIYESKMIEY
K302 SHKRLVMKDSAVNAI
Y376 VIMERDTYPRKWGLG
K379 ERDTYPRKWGLGPKA
S387 WGLGPKASQKKLMIK
K389 LGPKASQKKLMIKQG
K394 SQKKLMIKQGLLDKH
K394 SQKKLMIKQGLLDKH
K413 DSTPATWKQEYVDYR
Y416 PATWKQEYVDYR___
Y419 WKQEYVDYR______
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
  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
K61 LLLKNFDKLNVRTAH
K80 PCGSNPLKREIGDYI
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
K302 SHKRLVMKDSAVNAI
Y376‑p VIMERDTyPRKWGLG
K379 ERDTyPRKWGLGPKA
S387 WGLGPKASQkKMMIK
K389‑ac LGPKASQkKMMIKQG
K394 SQkKMMIKQGLLDKH
K394 SQkKMMIKQGLLDKH
K413 DNTPATWKQDYIDYs
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
R62 LLLKNFDRLNVRTTH
K81 PCGSNPLKREIGEYV
T90 EIGEYVRTGFINLDK
S99 FINLDKPSNPSSHEV
S103 DKPSNPSSHEVVAWI
T119 RILRVEKTGHSGTLD
S122 RVEKTGHSGTLDPKV
T124 EKTGHSGTLDPKVTG
K152 KSQQSAGKEYVGVVR
Y154 QQSAGKEYVGVVRLH
K192 PPLIAAVKRQLRVRT
Y201 QLRVRTIYESRVVEY
K303 SHKRLVMKDSAVNAI
Y377 VIMERDTYPRkWGLG
K380‑ac ERDTYPRkWGLGPKA
S388 WGLGPKASQKKQLIK
K390 LGPKASQKKQLIKQG
K395 SQKKQLIKQGLLDKH
K395 SQKKQLIKQGLLDKH
T414 DGTPASWTRDYVDYS
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‑p ARAAEELsG______
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