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MTU1 rabbit pAb

CAT: 0855-ES14678-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES14678-01Size:50 µL
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Background
This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA (Lys), tRNA (Glu), and tRNA (Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Description
This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA (Lys), tRNA (Glu), and tRNA (Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013],
UniProt
O75648
Swiss Prot
O75648
Reactivity
Human; Mouse; Rat
Immunogen
Synthesized peptide derived from human MTU1 AA range: 368-418
Target
MTU1
Clonality
Polyclonal
Source
Rabbit
Applications
WB
Concentration
1 mg/ml
Dilution
WB 1:500-2000
Buffer
-20°C/1 year
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
Mitochondrion .
Gene ID (Human)
55687

UniProtKB · O75648

Mitochondrial tRNA-specific 2-thiouridylase 1

MTU1_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
O75648
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
TRMU
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
2.8.1.14
Processing
—
Secondary accessions
A8K3U7, Q05C99, Q5W9C8, Q66K31, Q6ICC3, Q9NWC1
Protein keywords

Coding sequence diversity

Alternative splicing

Ligand

ATP-bindingNucleotide-binding

Disease

DeafnessDisease variantNon-syndromic deafness

PTM

Disulfide bond

Cellular component

Mitochondrion

Technical term

Proteomics identificationReference proteome

Molecular function

RNA-bindingTransferasetRNA-binding

Biological process

tRNA processing

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