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HINT1 - histidine triad nucleotide binding protein 1 Gene

Also Known as HINT; NMAN; PKCI-1; PRKCNH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3094

About HINT1

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:131,159,027-131,165,256 (from NCBI)

This gene has 15 transcripts (splice variants), 235 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 85.2), liver (RPKM 83.5) and 25 other tissues.

Summary

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. [provided by RefSeq, Dec 2015]

HINT1 Products (1)

mRNA	Protein	Name
NM_005340.7	NP_005331.1	adenosine 5'-monophosphoramidase HINT1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables adenosine 5'-monophosphoramidase activity	IDA IDA: Inferred from direct assay	17217311	GOA
enables adenosine 5'-monophosphoramidase activity	IMP IMP: Inferred from mutant phenotype	16835243	GOA
enables deSUMOylase activity	IMP IMP: Inferred from mutant phenotype	31088288	GOA
enables hydrolase activity	IDA IDA: Inferred from direct assay	16835243	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10958787	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intrinsic apoptotic signaling pathway by p53 class mediator	IMP IMP: Inferred from mutant phenotype	16835243	GOA
involved in protein desumoylation	IMP IMP: Inferred from mutant phenotype	31088288	GOA
involved in purine ribonucleotide catabolic process	IDA IDA: Inferred from direct assay	16835243	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	16835243	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	8812426	GOA
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	16835243	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9770345	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HINT1 Protein Structure

HIT

0
100
126 a.a.

Protein Preferred Names	Protein Names
adenosine 5'-monophosphoramidase HINT1	adenosine 5'-monophosphoramidase

HINT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Validated Y2H	32296183
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Array	32296183
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

HINT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83238	HINT1 Antibody (YA2983)	WB, ICC/IF, IP	Human
HY-P83238A	HINT1 Antibody (YA2983)(PBS only)	WB, ICC/IF, IP	Human

Related Diseases

Diseases	Alias
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Gamstorp-Wohlfart Syndrome Autosomal Recessive Axonal Neuropathy With Neuromyotonia NMAN Myokymia, Myotonia, And Muscle Wasting Aran-Nm Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia Autosomal Recessive Neuromyotonia And Axonal Neuropathy Arcmt2-Nm Myokymia, Myotonia And Muscle Wasting Myokymia Myotonia And Muscle Wasting Isaacs Syndrome
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Axonal Neuropathy
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Myotonia
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Corneal Dystrophy, Posterior Polymorphous, 2	Posterior Polymorphous Corneal Dystrophy 2 PPCD2 Corneal Dystrophy, Posterior Polymorphous 2 Corneal Dystrophy Polymorphous Posterior, 2 Dystrophy, Corneal, Posterior Polymorphous, Type 2
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-113337	Ap4A	Inducer	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113337A	Ap4A tetraammonium	Inducer	99.98%	Unkown
HY-138885	Tryptamine guanosine carbamate	Inhibitor	99.79%	Unkown
HY-173016	HINT1-IN-1	Modulator	/	Unkown
HY-RS06176	HINT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21594	Hint1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28112	Hint1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HINT1	RGD	RGD:1593411
Canis familiaris	HINT1	VGNC	VGNC:59039
Macaca mulatta	HINT1	VGNC	VGNC:84386
Bos taurus	HINT1	VGNC	VGNC:29854
Mus musculus	HINT1	MGD	MGI:1321133
Others	HINT1	NCBI