Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
3.4.22.-
Hydrolases;
Acting on peptide bonds (peptidases);
Cysteine endopeptidases;
3.9.1.-
Hydrolases;
Acting on phosphorus-nitrogen bonds;
Acting on phosphorus-nitrogen bonds (only sub-subclass identified to date);
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1AV5 | 2.0 | PKCI-SUBSTRATE ANALOG |
| 1KPA | 2.0 | PKCI-1-ZINC |
| 1KPB | 2.0 | PKCI-1-APO |
| 1KPC | 2.2 | PKCI-1-APO+ZINC |
| 1KPE | 1.8 | PKCI-TRANSITION STATE ANALOG |
| 1KPF | 1.5 | PKCI-SUBSTRATE ANALOG |
| 3TW2 | 1.38 | High resolution structure of human histidine triad nucleotide-binding protein 1 (hHINT1)/AMP complex in a monoclinic space group |
| 4EQE | 1.52 | Crystal structure of histidine triad nucleotide-binding protein 1 (HINT1) from human complexed with Lys-AMS |
| 4EQG | 1.52 | Crystal structure of histidine triad nucleotide-binding protein 1 (HINT1) from human complexed with Ala-AMS |
| 4EQH | 1.668 | Crystal structure of histidine triad nucleotide-binding protein 1 (HINT1) from human complexed with Trp-AMS |
| 4ZKL | 2.34 | Crystal structure of human histidine triad nucleotide-binding protein 1 (hHINT1) complexed with JB419 (AP4A analog) |
| 4ZKV | 1.92 | Crystal structure of human histidine triad nucleotide-binding protein 1 (hHINT1) refined to 1.92A at P21 space group |
| 5ED3 | 1.309 | crystal structure of human Hint1 complexing with AP5A |
| 5ED6 | 1.52 | crystal structure of human Hint1 H114A mutant complexing with ATP |
| 5EMT | 1.5 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1)-copper complex |
| 5I2E | 1.6 | Human Histidine Triad Nucleotide Binding Protein 1 (Hint1) with Bound Sulfamate Inhibitor 3a:3-(5-O-{[3-(1H-indol-3-yl)propanoyl]sulfamoyl}-beta-D-ribofuranosyl)-3H-imidazo[2,1-i]purine |
| 5I2F | 1.25 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) with bound sulfamide inhibitor Bio-AMS |
| 5IPB | 1.55 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant |
| 5IPC | 1.3 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant nucleoside thiophosphoramidate substrate complex |
| 5IPD | 1.75 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) nucleoside thiophosphoramidate covalent intermediate complex |
| 5IPE | 1.45 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) nucleoside thiophosphoramidate catalytic product complex |
| 5KLY | 1.3 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant adenosine nucleoside phosphoramidate substrate complex |
| 5KLZ | 1.5 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) AMP catalytic product complex |
| 5KM0 | 1.533 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint) IMP complex |
| 5KM1 | 1.65 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) GMP catalytic product complex |
| 5KM2 | 1.25 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) CMP catalytic product complex |
| 5KM3 | 1.2 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) UMP catalytic product complex |
| 5KM4 | 1.4 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1)-5-Iodo-UMP complex |
| 5KM6 | 1.6 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant Ara-A nucleoside phosphoramidate substrate complex |
| 5KMA | 1.55 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant nucleoside D-Trp phosphoramidate substrate complex |
| 5KMB | 1.6 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant nucleoside L-Trp phosphoramidate substrate complex |
| 5KMC | 1.35 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) non-nucleotidic covalent intermediate complex |
| 5O8I | 1.27 | Crystal structure of human histidine triad nucleotide-binding protein 1 (hHINT1) crystallized at P212121 space group, and refined to 1.27 A |
| 5WA8 | 1.3 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant nucleoside L-Ala phosphoramidate substrate complex |
| 5WA9 | 1.15 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) H112N mutant nucleoside D-Ala phosphoramidate substrate complex |
| 5WAA | 1.098 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) C84R mutant |
| 6B42 | 1.13 | Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) 2'-deoxy-AMP complex at 1.13A resolution |
| 6G9Z | 1.43 | Crystal structure of human histidine triad nucleotide-binding protein 1 (hHINT1) crystallized at P212121 space group, with visible extended fragment of N-terminus |
| 6J53 | 1.52 | Crystal structure of human HINT1 complexing with ATP |
| 6J58 | 1.521 | Crystal structure of human HINT1 complexing with AP4A |
| 6J5S | 1.02 | Crystal structure of human HINT1 mutant complexing with AP5A |
| 6J5Z | 1.3 | Crystal structure of human HINT1 mutant complexing with AP3A |
| 6J64 | 0.95 | Crystal structure of human HINT1 mutant complexing with AP4A |
| 6J65 | 1.42 | Crystal structure of human HINT1 mutant complexing with AP4A II |
| 6N3V | 1.45 | Human Histidine Triad Nucleotide Binding Protein 1 (Hint1) with Bound 5'-O-[1-Ethyl]Carbamoyl Guanosine |
| 6N3W | 1.75 | Human Histidine Triad Nucleotide Binding Protein 1 (Hint1) with Bound 5'-O-[3-Phenyl-1-Ethyl]Carbamoyl Guanosine |
| 6N3X | 1.1 | Human Histidine Triad Nucleotide Binding Protein 1 (Hint1) with Bound 5'-O-[1-Benzyl]Carbamoyl Guanosine |
| 6N3Y | 1.8 | Human Histidine Triad Nucleotide Binding Protein 1 (Hint1) with Bound 5'-O-[(3-Indolyl)-1-Ethyl]Carbamoyl Guanosine |
| 6YQM | 1.02 | Human histidine triad nucleotide-binding protein 1 (hHINT1) complexed with dGMP and refined to 1.02 A |
| 7Q2U | 2.27 | The crystal structure of the HINT1 Q62A mutant. |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0072332 | intrinsic apoptotic signaling pathway by p53 class mediator |
| Biological Process | GO:0050850 | positive regulation of calcium-mediated signaling |
| Biological Process | GO:0016926 | protein desumoylation |
| Biological Process | GO:0009154 | purine ribonucleotide catabolic process |
| Biological Process | GO:0006355 | regulation of DNA-templated transcription |
| Biological Process | GO:0007165 | signal transduction |
| Molecular Function | GO:0043530 | adenosine 5'-monophosphoramidase activity |
| Molecular Function | GO:0016929 | deSUMOylase activity |
| Molecular Function | GO:0016787 | hydrolase activity |
| Molecular Function | GO:0000166 | nucleotide binding |
| Molecular Function | GO:0005080 | protein kinase C binding |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005856 | cytoskeleton |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0000118 | histone deacetylase complex |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:10958787 |
| Cytoplasm | ECO:0000269 | PubMed:16014379 |
| Cytoplasm | ECO:0000269 | PubMed:19112177 |
| Cytoplasm | ECO:0000269 | PubMed:8812426 |
| Nucleus | ECO:0000269 | PubMed:10958787 |
| Nucleus | ECO:0000269 | PubMed:16014379 |
| Nucleus | ECO:0000269 | PubMed:19112177 |
| Nucleus | ECO:0000269 | PubMed:9770345 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000975 | Hyperhidrosis |
| HP:0001171 | Split hand |
| HP:0001256 | Intellectual disability, mild |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001328 | Specific learning disability |
| HP:0001371 | Flexion contracture |
| HP:0001760 | Abnormal foot morphology |
| HP:0001761 | Pes cavus |
| HP:0001771 | Achilles tendon contracture |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002273 | Tetraparesis |
| HP:0002356 | Writer's cramp |
| HP:0002359 | Frequent falls |
| HP:0002380 | Fasciculations |
| HP:0002411 | Myokymia |
| HP:0002486 | Myotonia |
| HP:0002505 | Loss of ambulation |
| HP:0002936 | Distal sensory impairment |
| HP:0002943 | Thoracic scoliosis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003376 | Steppage gait |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003394 | Muscle spasm |
| HP:0003401 | Paresthesia |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0003438 | Absent Achilles reflex |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003546 | Exercise intolerance |
| HP:0003552 | Muscle stiffness |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0003760 | Percussion-induced rapid rolling muscle contractions |
| HP:0004686 | Short third metatarsal |
| HP:0007002 | Motor axonal neuropathy |
| HP:0007178 | Motor polyneuropathy |
| HP:0007289 | Limb fasciculations |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0008954 | Intrinsic hand muscle atrophy |
| HP:0008991 | Exercise-induced leg cramps |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009049 | Peroneal muscle atrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0009130 | Hand muscle atrophy |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0012899 | Handgrip myotonia |
| HP:0030198 | Fatigable weakness of distal limb muscles |
| HP:0034351 | Neuromyotonia |
| HP:0100288 | EMG: myokymic discharges |
| HP:0100490 | Camptodactyly of finger |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| gamstorp-wohlfart syndrome | MONDO:0007646 | G60 | chapter6, Diseases of the nervous system | OMIM:137200 | Orphanet:324442 |