Antibody Name:	Anti-DKC1 Antibody
Antibody SKU:	CAB1862
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 245-514 of human DKC1 (NP_001354.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-251MG, Mouse testis

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 245-514 of human DKC1 (NP_001354.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	ELRR VRSG VMSE KDHM VTMH DVLD AQWL YDNH KDES YLRR VVYP LEKL LTSH KRLV MKDS AVNA ICYG AKIM LPGV LRYE DGIE VNQE IVVI TTKG EAIC MAIA LMTT AVIS TCDH GIVA KIKR VIME RDTY PRKW GLGP KASQ KKLM IKQG LLDK HGKP TDST PATW KQEY VDYS ESAK KEVV AEVV KAPQ VVAE AAKT AKRK RESE SESD ETPP AAPQ LIKK EKKK SKKD KKAK AGLE SGAE PGDG DSDT TKKK KKKK KAKE VELV SE
Gene ID:	1736
Uniprot:	O60832
Cellular Location:	Cajal body, Cytoplasm, Nucleus, nucleolus
Calculated MW:	47kDa/57kDa
Observed MW:	43kDa

Synonyms:

DKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Isomerase; EC 5.4.99.-; Nucleolus; Lyase; RNA-binding; RNA processing Chromosomal Location of Human Ortholog: Xq28 Cellular Component: cytoplasm; 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; positive regulation of telomere maintenance via telomerase; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance; telomere maintenance via telomerase Disease: Dyskeratosis Congenita, X-linked
NCBI 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]
UniProt Code:	O60832
NCBI GenInfo Identifier:	3913488
NCBI Gene ID:	1736
NCBI Accession:	O60832.3
UniProt Secondary Accession:	O60832,O43845, Q96G67, Q9Y505, F5BSB3,
UniProt Related Accession:	O60832
Molecular Weight:	47,603 Da
NCBI Full Name:	H/ACA ribonucleoprotein complex subunit 4
NCBI Synonym Full Names:	dyskerin pseudouridine synthase 1
NCBI Official Symbol:	DKC1
NCBI Official Synonym Symbols:	DKC; CBF5; DKCX; NAP57; NOLA4; XAP101
NCBI Protein Information:	H/ACA ribonucleoprotein complex subunit 4
UniProt Protein Name:	H/ACA ribonucleoprotein complex subunit 4
UniProt Synonym Protein Names:	CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1
UniProt Gene Name:	DKC1
UniProt Entry Name:	DKC1_HUMAN

	Western blot analysis of extracts of various cell lines, using DKC1 antibody (CAB1862) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST.
	Immunohistochemistry of paraffin-embedded human liver cancer using DKC1 Antibody (CAB1862) at dilution of 1:200 (40x lens).
	Immunohistochemistry of paraffin-embedded human cancer using DKC1 Antibody (CAB1862) at dilution of 1:200 (40x lens).
	Immunohistochemistry of paraffin-embedded mouse kidney using DKC1 Antibody (CAB1862) at dilution of 1:200 (40x lens).
	Immunofluorescence analysis of U2OS cells using DKC1 antibody (CAB1862). Blue: DAPI for nuclear staining.