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Protein

H/ACA ribonucleoprotein complex subunit 4

Gene

DKC1

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

Functioni

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.
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).

Catalytic activityi

RNA uridine = RNA pseudouridine.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei125NucleophileBy similarity1

GO - Molecular functioni

  • box H/ACA snoRNA binding Source: BHF-UCL
  • poly(A) RNA binding Source: UniProtKB
  • pseudouridine synthase activity Source: GO_Central
  • RNA binding Source: ProtInc
  • telomerase activity Source: UniProtKB
  • telomerase RNA binding Source: BHF-UCL

GO - Biological processi

  • box H/ACA snoRNA 3'-end processing Source: GO_Central
  • cell proliferation Source: ProtInc
  • mRNA pseudouridine synthesis Source: GO_Central
  • positive regulation of establishment of protein localization to telomere Source: BHF-UCL
  • positive regulation of telomerase activity Source: BHF-UCL
  • positive regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
  • positive regulation of telomere maintenance via telomerase Source: Ensembl
  • RNA processing Source: ProtInc
  • rRNA processing Source: ProtInc
  • rRNA pseudouridine synthesis Source: GO_Central
  • snRNA pseudouridine synthesis Source: GO_Central
  • telomerase RNA stabilization Source: BHF-UCL
  • telomere maintenance via telomerase Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Isomerase, Ribonucleoprotein

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130826-MONOMER.
ReactomeiR-HSA-171319. Telomere Extension By Telomerase.
R-HSA-6790901. rRNA modification in the nucleus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
H/ACA ribonucleoprotein complex subunit 4 (EC:5.4.99.-)
Alternative name(s):
CBF5 homolog
Dyskerin
Nopp140-associated protein of 57 kDa
Nucleolar protein NAP57
Nucleolar protein family A member 4
snoRNP protein DKC1
Gene namesi
Name:DKC1
Synonyms:NOLA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2890. DKC1.

Subcellular locationi

Isoform 1 :

GO - Cellular componenti

  • box H/ACA scaRNP complex Source: BHF-UCL
  • box H/ACA snoRNP complex Source: BHF-UCL
  • box H/ACA telomerase RNP complex Source: BHF-UCL
  • cytoplasm Source: UniProtKB-SubCell
  • nucleolus Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: LIFEdb
  • telomerase holoenzyme complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Dyskeratosis congenita, X-linked (DKCX)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:305000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0100762A → V in DKCX. 1 PublicationCorresponds to variant rs121912303dbSNPEnsembl.1
Natural variantiVAR_00681136F → V in DKCX. 1 PublicationCorresponds to variant rs121912293dbSNPEnsembl.1
Natural variantiVAR_00681237Missing in DKCX. 1 Publication1
Natural variantiVAR_01007739K → E in DKCX. 1 PublicationCorresponds to variant rs121912296dbSNPEnsembl.1
Natural variantiVAR_00681340P → R in DKCX. 1 PublicationCorresponds to variant rs121912292dbSNPEnsembl.1
Natural variantiVAR_01007841E → K in DKCX. 1 PublicationCorresponds to variant rs121912302dbSNPEnsembl.1
Natural variantiVAR_06382156L → S in DKCX; due to a 2 nucleotide inversion. 1 PublicationCorresponds to variant rs121912287dbSNPEnsembl.1
Natural variantiVAR_01007965R → T in DKCX. 1 PublicationCorresponds to variant rs121912301dbSNPEnsembl.1
Natural variantiVAR_01008066T → A in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912297dbSNPEnsembl.1
Natural variantiVAR_06382272L → F in DKCX. 1 PublicationCorresponds to variant rs121912306dbSNPEnsembl.1
Natural variantiVAR_00681472L → Y in DKCX; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs121912294dbSNPEnsembl.1
Natural variantiVAR_063823317L → F in DKCX. 1 PublicationCorresponds to variant rs121912290dbSNPEnsembl.1
Natural variantiVAR_010081321L → V in DKCX. 1 PublicationCorresponds to variant rs2728726dbSNPEnsembl.1
Natural variantiVAR_063824322R → Q in DKCX. 1 PublicationCorresponds to variant rs121912291dbSNPEnsembl.1
Natural variantiVAR_010082350M → I in DKCX; increases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912298dbSNPEnsembl.1
Natural variantiVAR_010083350M → T in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912300dbSNPEnsembl.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant rs121912288dbSNPEnsembl.1
Natural variantiVAR_006815402G → E in DKCX. 1 PublicationCorresponds to variant rs121912295dbSNPEnsembl.1
Natural variantiVAR_010084402G → R in DKCX. 1 PublicationCorresponds to variant rs121912299dbSNPEnsembl.1
Natural variantiVAR_063825409P → L in DKCX. 1 PublicationCorresponds to variant rs121912289dbSNPEnsembl.1
Hoyeraal-Hreidarsson syndrome (HHS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
See also OMIM:305000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01567438I → T in HHS. 1 PublicationCorresponds to variant rs28936072dbSNPEnsembl.1
Natural variantiVAR_01567549T → M in HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant rs121912304dbSNPEnsembl.1
Natural variantiVAR_015676121S → G in HHS; no effect on interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912305dbSNPEnsembl.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant rs121912288dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi353A → R: Increases interaction with SHQ1. 1 Publication1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi1736.
MalaCardsiDKC1.
MIMi305000. phenotype.
OpenTargetsiENSG00000130826.
Orphaneti1775. Dyskeratosis congenita.
3322. Hoyeraal-Hreidarsson syndrome.
PharmGKBiPA27344.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001219832 – 514H/ACA ribonucleoprotein complex subunit 4Add BLAST513

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei21PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei451PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1
Modified residuei458PhosphothreonineBy similarity1
Modified residuei485PhosphoserineCombined sources1
Modified residuei494PhosphoserineCombined sources1
Modified residuei513PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO60832.
MaxQBiO60832.
PaxDbiO60832.
PeptideAtlasiO60832.
PRIDEiO60832.

2D gel databases

SWISS-2DPAGEO60832.

PTM databases

iPTMnetiO60832.
PhosphoSitePlusiO60832.
SwissPalmiO60832.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000130826.
CleanExiHS_DKC1.
ExpressionAtlasiO60832. baseline and differential.
GenevisibleiO60832. HS.

Organism-specific databases

HPAiCAB033086.
HPA000166.
HPA000447.
HPA001022.

Interactioni

Subunit structurei

Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HMBOX1Q6NT762EBI-713091,EBI-2549423
NAF1Q96HR87EBI-713091,EBI-2515597
RUVBL1Q9Y2658EBI-713091,EBI-353675

Protein-protein interaction databases

BioGridi108080. 136 interactors.
DIPiDIP-40645N.
IntActiO60832. 35 interactors.
MINTiMINT-1379892.
STRINGi9606.ENSP00000358563.

Structurei

3D structure databases

ProteinModelPortaliO60832.
SMRiO60832.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini296 – 371PUAPROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 21Nucleolar localizationAdd BLAST20
Regioni446 – 514Nuclear and nucleolar localizationAdd BLAST69

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi11 – 17Poly-Lys7

Sequence similaritiesi

Belongs to the pseudouridine synthase TruB family.Curated
Contains 1 PUA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2529. Eukaryota.
COG0130. LUCA.
GeneTreeiENSGT00510000047092.
HOGENOMiHOG000231224.
HOVERGENiHBG081442.
InParanoidiO60832.
KOiK11131.
OMAiEHHEEVV.
OrthoDBiEOG091G079R.
PhylomeDBiO60832.
TreeFamiTF300354.

Family and domain databases

Gene3Di2.30.130.10. 1 hit.
InterProiIPR012960. Dyskerin-like.
IPR020103. PsdUridine_synth_cat_dom.
IPR002501. PsdUridine_synth_N.
IPR002478. PUA.
IPR015947. PUA-like_domain.
IPR004802. tRNA_PsdUridine_synth_B_fam.
IPR032819. TruB_C.
IPR004521. Uncharacterised_CHP00451.
[Graphical view]
PANTHERiPTHR23127. PTHR23127. 1 hit.
PfamiPF08068. DKCLD. 1 hit.
PF01472. PUA. 1 hit.
PF16198. TruB_C_2. 1 hit.
PF01509. TruB_N. 1 hit.
[Graphical view]
SMARTiSM01136. DKCLD. 1 hit.
SM00359. PUA. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
SSF88697. SSF88697. 1 hit.
TIGRFAMsiTIGR00425. CBF5. 1 hit.
TIGR00451. unchar_dom_2. 1 hit.
PROSITEiPS50890. PUA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60832-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS
60 70 80 90 100
QWPLLLKNFD KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP
110 120 130 140 150
SSHEVVAWIR RILRVEKTGH SGTLDPKVTG CLIVCIERAT RLVKSQQSAG
160 170 180 190 200
KEYVGIVRLH NAIEGGTQLS RALETLTGAL FQRPPLIAAV KRQLRVRTIY
210 220 230 240 250
ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG GQMQELRRVR
260 270 280 290 300
SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV
310 320 330 340 350
MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM
360 370 380 390 400
TTAVISTCDH GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK
410 420 430 440 450
HGKPTDSTPA TWKQEYVDYS ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE
460 470 480 490 500
SESESDETPP AAPQLIKKEK KKSKKDKKAK AGLESGAEPG DGDSDTTKKK
510
KKKKKAKEVE LVSE
Length:514
Mass (Da):57,674
Last modified:January 23, 2007 - v3
Checksum:i12474DBEEFEB471C
GO
Isoform 3 (identifier: O60832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-514: SESAKKEVVA...KAKEVELVSE → R

Show »
Length:420
Mass (Da):47,603
Checksum:iA14633849FB65A56
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37L → F in AAB94299 (Ref. 4) Curated1
Sequence conflicti285V → F in AAH09928 (PubMed:15489334).Curated1
Sequence conflicti446K → KVSGMLSSVWN in CAB51168 (PubMed:10364516).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0100762A → V in DKCX. 1 PublicationCorresponds to variant rs121912303dbSNPEnsembl.1
Natural variantiVAR_00681136F → V in DKCX. 1 PublicationCorresponds to variant rs121912293dbSNPEnsembl.1
Natural variantiVAR_00681237Missing in DKCX. 1 Publication1
Natural variantiVAR_01567438I → T in HHS. 1 PublicationCorresponds to variant rs28936072dbSNPEnsembl.1
Natural variantiVAR_01007739K → E in DKCX. 1 PublicationCorresponds to variant rs121912296dbSNPEnsembl.1
Natural variantiVAR_00681340P → R in DKCX. 1 PublicationCorresponds to variant rs121912292dbSNPEnsembl.1
Natural variantiVAR_01007841E → K in DKCX. 1 PublicationCorresponds to variant rs121912302dbSNPEnsembl.1
Natural variantiVAR_01567549T → M in HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant rs121912304dbSNPEnsembl.1
Natural variantiVAR_06382156L → S in DKCX; due to a 2 nucleotide inversion. 1 PublicationCorresponds to variant rs121912287dbSNPEnsembl.1
Natural variantiVAR_01007965R → T in DKCX. 1 PublicationCorresponds to variant rs121912301dbSNPEnsembl.1
Natural variantiVAR_01008066T → A in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912297dbSNPEnsembl.1
Natural variantiVAR_06382272L → F in DKCX. 1 PublicationCorresponds to variant rs121912306dbSNPEnsembl.1
Natural variantiVAR_00681472L → Y in DKCX; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs121912294dbSNPEnsembl.1
Natural variantiVAR_015676121S → G in HHS; no effect on interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912305dbSNPEnsembl.1
Natural variantiVAR_022553223G → D.Corresponds to variant rs2728533dbSNPEnsembl.1
Natural variantiVAR_063823317L → F in DKCX. 1 PublicationCorresponds to variant rs121912290dbSNPEnsembl.1
Natural variantiVAR_010081321L → V in DKCX. 1 PublicationCorresponds to variant rs2728726dbSNPEnsembl.1
Natural variantiVAR_063824322R → Q in DKCX. 1 PublicationCorresponds to variant rs121912291dbSNPEnsembl.1
Natural variantiVAR_010082350M → I in DKCX; increases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912298dbSNPEnsembl.1
Natural variantiVAR_010083350M → T in DKCX; decreases interaction with SHQ1. 2 PublicationsCorresponds to variant rs121912300dbSNPEnsembl.1
Natural variantiVAR_009264353A → V in DKCX and HHS; increases interaction with SHQ1. 3 PublicationsCorresponds to variant rs121912288dbSNPEnsembl.1
Natural variantiVAR_006815402G → E in DKCX. 1 PublicationCorresponds to variant rs121912295dbSNPEnsembl.1
Natural variantiVAR_010084402G → R in DKCX. 1 PublicationCorresponds to variant rs121912299dbSNPEnsembl.1
Natural variantiVAR_063825409P → L in DKCX. 1 PublicationCorresponds to variant rs121912289dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042422420 – 514SESAK…ELVSE → R in isoform 3. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ224481 Genomic DNA. Translation: CAA11970.1.
AJ010395, AJ010396 Genomic DNA. Translation: CAB51168.1.
AF067008 mRNA. Translation: AAD11815.1.
AF067023
, AF067009, AF067010, AF067011, AF067012, AF067013, AF067014, AF067015, AF067016, AF067017, AF067018, AF067019, AF067020, AF067021, AF067022 Genomic DNA. Translation: AAD20232.1.
U59151 mRNA. Translation: AAB94299.1.
JF279874 mRNA. Translation: ADX66370.1.
AC109993 Genomic DNA. No translation available.
BC009928 mRNA. Translation: AAH09928.1.
BC010015 mRNA. Translation: AAH10015.1.
CCDSiCCDS14761.1. [O60832-1]
CCDS76062.1. [O60832-2]
RefSeqiNP_001135935.1. NM_001142463.2.
NP_001275676.1. NM_001288747.1. [O60832-2]
NP_001354.1. NM_001363.4. [O60832-1]
UniGeneiHs.4747.

Genome annotation databases

EnsembliENST00000369550; ENSP00000358563; ENSG00000130826. [O60832-1]
ENST00000620277; ENSP00000478387; ENSG00000130826. [O60832-2]
GeneIDi1736.
KEGGihsa:1736.
UCSCiuc004fmm.5. human. [O60832-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

DKC1base

DKC1 mutation db

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ224481 Genomic DNA. Translation: CAA11970.1.
AJ010395, AJ010396 Genomic DNA. Translation: CAB51168.1.
AF067008 mRNA. Translation: AAD11815.1.
AF067023
, AF067009, AF067010, AF067011, AF067012, AF067013, AF067014, AF067015, AF067016, AF067017, AF067018, AF067019, AF067020, AF067021, AF067022 Genomic DNA. Translation: AAD20232.1.
U59151 mRNA. Translation: AAB94299.1.
JF279874 mRNA. Translation: ADX66370.1.
AC109993 Genomic DNA. No translation available.
BC009928 mRNA. Translation: AAH09928.1.
BC010015 mRNA. Translation: AAH10015.1.
CCDSiCCDS14761.1. [O60832-1]
CCDS76062.1. [O60832-2]
RefSeqiNP_001135935.1. NM_001142463.2.
NP_001275676.1. NM_001288747.1. [O60832-2]
NP_001354.1. NM_001363.4. [O60832-1]
UniGeneiHs.4747.

3D structure databases

ProteinModelPortaliO60832.
SMRiO60832.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108080. 136 interactors.
DIPiDIP-40645N.
IntActiO60832. 35 interactors.
MINTiMINT-1379892.
STRINGi9606.ENSP00000358563.

PTM databases

iPTMnetiO60832.
PhosphoSitePlusiO60832.
SwissPalmiO60832.

2D gel databases

SWISS-2DPAGEO60832.

Proteomic databases

EPDiO60832.
MaxQBiO60832.
PaxDbiO60832.
PeptideAtlasiO60832.
PRIDEiO60832.

Protocols and materials databases

DNASUi1736.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369550; ENSP00000358563; ENSG00000130826. [O60832-1]
ENST00000620277; ENSP00000478387; ENSG00000130826. [O60832-2]
GeneIDi1736.
KEGGihsa:1736.
UCSCiuc004fmm.5. human. [O60832-1]

Organism-specific databases

CTDi1736.
DisGeNETi1736.
GeneCardsiDKC1.
GeneReviewsiDKC1.
HGNCiHGNC:2890. DKC1.
HPAiCAB033086.
HPA000166.
HPA000447.
HPA001022.
MalaCardsiDKC1.
MIMi300126. gene.
305000. phenotype.
neXtProtiNX_O60832.
OpenTargetsiENSG00000130826.
Orphaneti1775. Dyskeratosis congenita.
3322. Hoyeraal-Hreidarsson syndrome.
PharmGKBiPA27344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2529. Eukaryota.
COG0130. LUCA.
GeneTreeiENSGT00510000047092.
HOGENOMiHOG000231224.
HOVERGENiHBG081442.
InParanoidiO60832.
KOiK11131.
OMAiEHHEEVV.
OrthoDBiEOG091G079R.
PhylomeDBiO60832.
TreeFamiTF300354.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130826-MONOMER.
ReactomeiR-HSA-171319. Telomere Extension By Telomerase.
R-HSA-6790901. rRNA modification in the nucleus and cytosol.

Miscellaneous databases

ChiTaRSiDKC1. human.
GeneWikiiDyskerin.
GenomeRNAii1736.
PROiO60832.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130826.
CleanExiHS_DKC1.
ExpressionAtlasiO60832. baseline and differential.
GenevisibleiO60832. HS.

Family and domain databases

Gene3Di2.30.130.10. 1 hit.
InterProiIPR012960. Dyskerin-like.
IPR020103. PsdUridine_synth_cat_dom.
IPR002501. PsdUridine_synth_N.
IPR002478. PUA.
IPR015947. PUA-like_domain.
IPR004802. tRNA_PsdUridine_synth_B_fam.
IPR032819. TruB_C.
IPR004521. Uncharacterised_CHP00451.
[Graphical view]
PANTHERiPTHR23127. PTHR23127. 1 hit.
PfamiPF08068. DKCLD. 1 hit.
PF01472. PUA. 1 hit.
PF16198. TruB_C_2. 1 hit.
PF01509. TruB_N. 1 hit.
[Graphical view]
SMARTiSM01136. DKCLD. 1 hit.
SM00359. PUA. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
SSF88697. SSF88697. 1 hit.
TIGRFAMsiTIGR00425. CBF5. 1 hit.
TIGR00451. unchar_dom_2. 1 hit.
PROSITEiPS50890. PUA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDKC1_HUMAN
AccessioniPrimary (citable) accession number: O60832
Secondary accession number(s): F5BSB3
, O43845, Q96G67, Q9Y505
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 186 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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.