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Mouse Anti-HINT1 Monoclonal Antibody (CBFYH-3071) (CBMAB-H2059-FY)


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Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
CBFYH-3071
Antibody Isotype
IgG1, κ
Application
ELISA, WB, IHC-P, IF, FC

Basic Information

Immunogen
Recombinant protein
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
0.09% Sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
histidine triad nucleotide binding protein 1
Introduction
This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed.
Entrez Gene ID
Human3094
Mouse15254
Rat690660
UniProt ID
HumanP49773
MouseP70349
RatP62959
Alternative Names
Histidine Triad Nucleotide Binding Protein 1; Protein Kinase C-Interacting Protein 1; Adenosine 5-Monophosphoramidase; Protein Kinase C Inhibitor 1; PRKCNH1; PKCI-1; HINT
Function
Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:17337452, PubMed:17217311, PubMed:23614568, PubMed:28691797, PubMed:29787766, PubMed:31990367, PubMed:22329685).

Hydrolyzes adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate) (PubMed:15703176, PubMed:16835243).

Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester (PubMed:15703176, PubMed:22329685, PubMed:17337452).

Hydrolyzes 3-indolepropionic acyl-adenylate, tryptamine adenosine phosphoramidate monoester and other fluorogenic purine nucleoside tryptamine phosphoramidates in vitro (PubMed:17337452, PubMed:23614568, PubMed:29787766, PubMed:17217311, PubMed:28691797, PubMed:31990367).

Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with concomitant release of hydrogen sulfide (PubMed:30772266).

In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1 (PubMed:16014379, PubMed:22647378).

Modulates p53/TP53 levels and p53/TP53-mediated apoptosis (PubMed:16835243).

Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (PubMed:19112177).

Also exhibits SUMO-specific isopeptidase activity, deconjugating SUMO1 from RGS17 (PubMed:31088288).

Deconjugates SUMO1 from RANGAP1 (By similarity).
Biological Process
Intrinsic apoptotic signaling pathway by p53 class mediator Source: UniProtKB
Positive regulation of calcium-mediated signaling Source: Ensembl
Protein desumoylation Source: UniProtKB
Purine ribonucleotide catabolic process Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB
Signal transduction Source: ProtInc
Cellular Location
Nucleus; Cytoplasm. Interaction with CDK7 leads to a more nuclear localization.
Involvement in disease
Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN):
An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves.
More Infomation

Morel, V., Campana‐Salort, E., Boyer, A., Esselin, F., Walther‐Louvier, U., Querin, G., ... & Bonello‐Palot, N. (2022). HINT1 neuropathy: Expanding the genotype and phenotype spectrum. Clinical Genetics, 102(5), 379-390.

Takahashi, S., Fukuhara, D., Kimura, T., Fukutomi, T., Tanaka, E., Mikami, N., ... & Yan, K. (2022). USP40 deubiquitinates HINT1 and stabilizes p53 in podocyte damage. Biochemical and Biophysical Research Communications, 614, 198-206.

Xu, L., Wang, G., Lv, X., Zhang, D., Yan, C., & Lin, P. (2022). A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature. Acta Neurologica Belgica, 122(5), 1305-1312.

Amor-Barris, S., Høyer, H., Brauteset, L. V., De Vriendt, E., Strand, L., Jordanova, A., ... & Peeters, K. (2021). HINT1 neuropathy in Norway: clinical, genetic and functional profiling. Orphanet Journal of Rare Diseases, 16(1), 1-11.

Zhang, Y., Da, Q., Cao, S., Yan, K., Shi, Z., Miao, Q., ... & Ji, Y. (2021). HINT1 (Histidine Triad Nucleotide-Binding Protein 1) attenuates cardiac hypertrophy via suppressing HOXA5 (Homeobox A5) expression. Circulation, 144(8), 638-654.

Shchagina, O. A., Milovidova, T. B., Murtazina, A. F., Rudenskaya, G. E., Nikitin, S. S., Dadali, E. L., & Polyakov, A. V. (2020). HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Molecular Biology Reports, 47(2), 1331-1337.

Yu, J., Liu, Z., Liang, Y., Luo, F., Zhang, J., Tian, C., ... & Wang, J. (2019). Second messenger Ap4A polymerizes target protein HINT1 to transduce signals in FcεRI-activated mast cells. Nature communications, 10(1), 4664.

Scarpini, G., Spagnoli, C., Salerno, G. G., Rizzi, S., Frattini, D., & Fusco, C. (2019). Autosomal recessive axonal neuropathy caused by HINT1 mutation: new association of a psychiatric disorder to the neurologic phenotype. Neuromuscular Disorders, 29(12), 979.

Zhou, Y., Zhang, H. K., Liu, F., Lei, G., Liu, P., Jiao, T., & Dang, Y. H. (2018). Altered light conditions contribute to abnormalities in emotion and cognition through HINT1 dysfunction in C57BL/6 mice. Frontiers in Behavioral Neuroscience, 12, 110.

Bao, T., Ke, Y., Wang, Y., Wang, W., Li, Y., Wang, Y., ... & Xiao, C. (2018). Taraxasterol suppresses the growth of human liver cancer by upregulating Hint1 expression. Journal of Molecular Medicine, 96, 661-672.

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For research use only. Not intended for any clinical use.

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