Anti-PUS1 Antibody (CAB8720)
- SKU:
- CAB8720
- Product type:
- Antibody
- Application:
- WB
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Epigenetics and Nuclear Signaling
Frequently bought together:
Description
Antibody Name: | Anti-PUS1 Antibody |
Antibody SKU: | CAB8720 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 308-427 of human PUS1 (NP_079491.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: | U-87MG |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 308-427 of human PUS1 (NP_079491.2). |
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: | YAPE SVLE RSWG TEKV DVPK APGL GLVL ERVH FEKY NQRF GNDG LHEP LDWA QEEG KVAA FKEE HIYP TIIG TERD ERSM AQWL STLP IHNF SATA LTAG GTGA KVPS PLEG SEGD GDTD |
Gene ID: | 80324 |
Uniprot: | Q9Y606 |
Cellular Location: | Mitochondrion, Nucleus |
Calculated MW: | 44kDa/47kDa |
Observed MW: | 47kDa |
Synonyms: | PUS1, MLASA1 |
Background: | This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants. |
UniProt Protein Function: | PUS1: Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA. Defects in PUS1 are a cause of myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1); also known as mitochondrial myopathy and sideroblastic anemia. MLASA is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Belongs to the tRNA pseudouridine synthase TruA family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:RNA processing; EC 5.4.99.12; Nuclear receptor co-regulator; RNA-binding; Transcription, coactivator/corepressor; Isomerase Chromosomal Location of Human Ortholog: 12q24.33 Cellular Component: mitochondrial matrix; mitochondrion; nucleus Molecular Function:pseudouridine synthase activity Disease: Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
NCBI Summary: | This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] |
UniProt Code: | Q9Y606 |
NCBI GenInfo Identifier: | 114152895 |
NCBI Gene ID: | 80324 |
NCBI Accession: | Q9Y606.3 |
UniProt Secondary Accession: | Q9Y606,Q8WYT2, Q9BU44, A8K877, B3KQC1, |
UniProt Related Accession: | Q9Y606 |
Molecular Weight: | 44,377 Da |
NCBI Full Name: | tRNA pseudouridine synthase A, mitochondrial |
NCBI Synonym Full Names: | pseudouridylate synthase 1 |
NCBI Official Symbol: | PUS1 |
NCBI Official Synonym Symbols: | MLASA1 |
NCBI Protein Information: | tRNA pseudouridine synthase A, mitochondrial |
UniProt Protein Name: | tRNA pseudouridine synthase A, mitochondrial |
UniProt Synonym Protein Names: | tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA-uridine isomerase I |
Protein Family: | tRNA pseudouridine synthase |
UniProt Gene Name: | PUS1 |
UniProt Entry Name: | TRUA_HUMAN |