DKC1 - dyskerin pseudouridine synthase 1 Gene

Also Known as DKC; CBF5; DKCX; NAP57; NOLA4; XAP101

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1736

About DKC1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,762,864-154,777,689 (from NCBI)

This gene has 32 transcripts (splice variants), 216 orthologues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.6), lymph node (RPKM 11.6) and 25 other tissues.

Summary

This gene functions in two distinct complexes. It plays an active role in Telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DKC1 Products (3)

mRNA	Protein	Name
NM_001142463.3	NP_001135935.1	H/ACA ribonucleoprotein complex subunit DKC1 isoform 2
NM_001288747.2	NP_001275676.1	H/ACA ribonucleoprotein complex subunit DKC1 isoform 3
NM_001363.5	NP_001354.1	H/ACA ribonucleoprotein complex subunit DKC1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables box H/ACA snoRNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16601202	GOA
enables pseudouridine synthase activity	IMP IMP: Inferred from mutant phenotype	25219674	GOA
enables telomerase RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
contributes to telomerase activity	IDA IDA: Inferred from direct assay	23685356	GOA
enables telomerase activity	IDA IDA: Inferred from direct assay	12135483	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in enzyme-directed rRNA pseudouridine synthesis	IMP IMP: Inferred from mutant phenotype	25219674	GOA
involved in positive regulation of telomerase RNA localization to Cajal body	IMP IMP: Inferred from mutant phenotype	25467444	GOA
acts upstream of positive regulation of telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	23685356	GOA
acts upstream of positive regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in regulation of telomerase RNA localization to Cajal body	IMP IMP: Inferred from mutant phenotype	26950371	GOA
acts upstream of or within scaRNA localization to Cajal body	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in telomerase RNA stabilization	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	29695869	GOA
involved in telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	26950371	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of box H/ACA snoRNP complex	IDA IDA: Inferred from direct assay	18082603	GOA
part of box H/ACA telomerase RNP complex	IDA IDA: Inferred from direct assay	18082603	GOA
part of telomerase holoenzyme complex	IDA IDA: Inferred from direct assay	12135483	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DKC1 Protein Structure

DKCLD

TruB_N

PUA

0
100
200
300
400
514 a.a.

Protein Preferred Names	Protein Names
H/ACA ribonucleoprotein complex subunit DKC1	CBF5 homolog

DKC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DKC1	O60832	SHQ1	Homo sapiens	Q6PI26	Pull Down	29178645
Intra	DKC1	O60832	SHQ1	Homo sapiens	Q6PI26	Anti Tag CoIP	33961781
Intra	DKC1	O60832	SHQ1	Homo sapiens	Q6PI26	Anti Tag CoIP	28514442
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	Anti Tag CoIP	33961781
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	TAP	19179534
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	Anti Tag CoIP	28514442
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	Anti Tag CoIP	19179534
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	IF	16618814
Intra	DKC1	O60832	NAF1	Homo sapiens	Q96HR8	Anti Tag CoIP	35271311
Intra	DKC1	O60832	RUVBL1	Homo sapiens	Q9Y265	Anti Tag CoIP	18358808
Intra	DKC1	O60832	RUVBL1	Homo sapiens	Q9Y265	TAP	19179534
Intra	DKC1	O60832	RUVBL1	Homo sapiens	Q9Y265	Anti Tag CoIP	19179534

Cross: Cross-species interaction Intra: Intraspecies interaction

DKC1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82005	DKC1 Antibody (YA1750)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Dyskeratosis Congenita, X-Linked	DKCX X-Linked Dyskeratosis Congenita Zinsser-Cole-Engman Syndrome Hoyeraal-Hreidarsson Syndrome Dyskeratosis Congenita X-Linked HHS Cerebellar Hypoplasia With Pancytopenia Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia Dyskeratosis Congenita
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Hoyeraal Hreidarsson Syndrome	Hoyeraal-Hreidarsson Syndrome Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome Cerebellar Hypoplasia With Pancytopenia Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia
Leukoplakia	Leukoplakia Of Gingiva Leukoplakia Of Oral Epithelium Leucoplakia Of Oral Mucosa Leukokeratosis Of Oral Mucosa
Incontinentia Pigmenti	Bloch-Sulzberger Syndrome IP Incontinentia Pigmenti, Familial Male-Lethal Type Incontinentia Pigmenti Syndrome Bloch-Siemens Syndrome Ip2 Incontinentia Pigmenti, Type Ii, Formerly Ip2, Formerly Incontinentia Pigmenti Type 2 Bloch-Siemens-Sulzberger Syndrome Familial Incontinentia Pigmenti Male-Lethal Type Familial Incontinentia Pigmenti Type Ii Incontinentia Pigmenti, Type Ii Bloch Sulzberger Syndrome Incontinentia Pigmenti Achromians Incontinentia Pigmenti Of Bloch-Sulzberger Nevus Pigmentosus Systematicus
Cerebellar Hypoplasia
Revesz Syndrome	Exudative Retinopathy With Bone Marrow Failure DKCA5 Dyskeratosis Congenita, Autosomal Dominant 5 Dyskeratosis Congenita With Bilateral Exudative Retinopathy Retinopathy-Anemia-Central Nervous System Anomalies Syndrome Revesz-Debuse Syndrome Dyskeratosis Congenita, Autosomal Dominant, 5 Revesz Debuse Syndrome
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	CHEGDD
Adermatoglyphia	ADERM Immigration Delay Disease Absence Of Fingerprints Adg Congenital Absence Of Fingerprints Isolated Congenital Adermatoglyphia Fingerprints, Absence Of Skin Abnormalities
Pancytopenia
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Chronic Congestive Splenomegaly
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Retinal Telangiectasia
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia
Dyskeratosis Congenita, Autosomal Dominant 1	DKCA1 Dyskeratosis Congenita, Scoggins Type Autosomal Dominant Dyskeratosis Congenita 1 Dyskeratosis Congenita, Autosomal Dominant, Type 1 Dyskeratosis Congenita, Autosomal Dominant
Entropion
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS19319	Dkc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03786	DKC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25810	Dkc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DKC1	VGNC	VGNC:71800
Rattus norvegicus	DKC1	RGD	RGD:621780
Felis catus	DKC1	VGNC	VGNC:61505
Mus musculus	DKC1	MGD	MGI:1861727
Bos taurus	DKC1	VGNC	VGNC:28078
Canis familiaris	DKC1	VGNC	VGNC:103670
Others	DKC1	NCBI