C10orf2 Antibody - #DF7263

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Product: C10orf2 Antibody
Catalog: DF7263
Description: Rabbit polyclonal antibody to C10orf2
Application: WB IHC
Reactivity: Human, Mouse, Rat
Mol.Wt.: 77kDa; 77kD(Calculated).
Uniprot: Q96RR1
RRID: AB_2839202

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Related Downloads
MS Report
HPLC Report
MSDS
Data Sheet
COA
Protocols
WB Handbook
IHC Protocol
IF/ICC Protocol

Product Info

Source:
Rabbit
Application:
WB 1:500-1:2000, IHC 1:50-1:200
*The optimal dilutions should be determined by the end user.
*Tips:

WB: For western blot detection of denatured protein samples. IHC: For immunohistochemical detection of paraffin sections (IHC-p) or frozen sections (IHC-f) of tissue samples. IF/ICC: For immunofluorescence detection of cell samples. ELISA(peptide): For ELISA detection of antigenic peptide.

Reactivity:
Human,Mouse,Rat
Clonality:
Polyclonal
Specificity:
C10orf2 Antibody detects endogenous levels of total C10orf2.
RRID:
AB_2839202
Cite Format: Affinity Biosciences Cat# DF7263, RRID:AB_2839202.
Conjugate:
Unconjugated.
Purification:
The antiserum was purified by peptide affinity chromatography using SulfoLink™ Coupling Resin (Thermo Fisher Scientific).
Storage:
Rabbit IgG in phosphate buffered saline , pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. Store at -20 °C. Stable for 12 months from date of receipt.
Alias:

Fold/Unfold

Ataxin 8; Ataxin8; ATXN 8; ATXN8; C10 orf2; C10orf 2; C10orf2; Chromosome 10 open reading frame 2; IOSCA; mitochondrial; MTDPS7; PEO 1; PEO; PEO1; PEO1_HUMAN; PEOA3; Progressive external ophthalmoplegia 1 protein; SANDO; SCA 8; SCA8; T7 gp4 like protein with intramitochondrial nucleoid localization; T7 gp4-like protein with intramitochondrial nucleoid localization; T7 helicase-related protein with intramitochondrial nucleoid localization; T7 like mitochondrial DNA helicase; T7-like mitochondrial DNA helicase; Twinkle protein; Twinkle protein, mitochondrial; TWINL;

Immunogens

Immunogen:
Uniprot:

Q96RR1(PEO1_HUMAN) >>Visit HPA database.

Gene(ID):
TWNK(56652)
Expression:
Q96RR1 PEO1_HUMAN:

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.

Description:
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Sequence:
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK

PTMs - Q96RR1 As Substrate

Site PTM Type Enzyme
S143 Phosphorylation
K144 Ubiquitination
T178 Phosphorylation
T189 Phosphorylation
Y197 Phosphorylation
S214 Phosphorylation
T358 Phosphorylation
K365 Ubiquitination
Y537 Phosphorylation
K633 Ubiquitination
C667 S-Nitrosylation

Research Backgrounds

Function:

Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.

Subcellular Location:

Mitochondrion matrix>Mitochondrion nucleoid.
Note: Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionSubcellular location
Tissue Specificity:

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.

Subunit Structure:

Forms multimers in vitro, including hexamers. Interacts with LONP1. Interacts with POLG in vitro.

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