Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.7.1
Transferases;
Transferring phosphorus-containing groups;
Nucleotidyltransferases;
nicotinamide-nucleotide adenylyltransferase
2.7.7.18
Transferases;
Transferring phosphorus-containing groups;
Nucleotidyltransferases;
nicotinate-nucleotide adenylyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1GZU | 2.9 | Crystal Structure of Human Nicotinamide Mononucleotide Adenylyltransferase in Complex with NMN |
| 1KKU | 2.5 | Crystal structure of nuclear human nicotinamide mononucleotide adenylyltransferase |
| 1KQN | 2.2 | Crystal structure of NMN/NaMN adenylyltransferase complexed with NAD |
| 1KQO | 2.5 | Crystal structure of NMN/NaMN adenylyltransferase complexed with deamido-NAD |
| 1KR2 | 2.3 | CRYSTAL STRUCTURE OF HUMAN NMN/NAMN ADENYLYL TRANSFERASE COMPLEXED WITH TIAZOFURIN ADENINE DINUCLEOTIDE (TAD) |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:1990966 | ATP generation from poly-ADP-D-ribose |
| Biological Process | GO:0009435 | NAD biosynthetic process |
| Biological Process | GO:0045892 | negative regulation of DNA-templated transcription |
| Biological Process | GO:1901215 | negative regulation of neuron death |
| Biological Process | GO:0009165 | nucleotide biosynthetic process |
| Biological Process | GO:0009611 | response to wounding |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0000309 | nicotinamide-nucleotide adenylyltransferase activity |
| Molecular Function | GO:0004515 | nicotinate-nucleotide adenylyltransferase activity |
| Molecular Function | GO:0140768 | protein ADP-ribosyltransferase-substrate adaptor activity |
| Cellular Component | GO:0000785 | chromatin |
| Cellular Component | GO:0016604 | nuclear body |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR004821 | Cytidyltransferase-like domain |
| IPR005248 | Nicotinate/nicotinamide nucleotide adenylyltransferase |
| IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
| IPR045094 | Nicotinamide/nicotinate mononucleotide adenylyltransferase, eukaryotic |
| Pfam
|
Pfam name |
|---|---|
| PF01467 | Cytidylyltransferase-like |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-196807 | Nicotinate metabolism | Internal node | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000269 | PubMed:11248244 |
| Nucleus | ECO:0000269 | PubMed:12574164 |
| Nucleus | ECO:0000269 | PubMed:16118205 |
| Nucleus | ECO:0000269 | PubMed:22842230 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000154 | Wide mouth |
| HP:0000280 | Coarse facial features |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000540 | Hypermetropia |
| HP:0000543 | Optic disc pallor |
| HP:0000546 | Retinal degeneration |
| HP:0000550 | Undetectable electroretinogram |
| HP:0000551 | Color vision defect |
| HP:0000563 | Keratoconus |
| HP:0000577 | Exotropia |
| HP:0000613 | Photophobia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000662 | Nyctalopia |
| HP:0000664 | Synophrys |
| HP:0000666 | Horizontal nystagmus |
| HP:0001116 | Macular coloboma |
| HP:0001141 | Severely reduced visual acuity |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001483 | Eye poking |
| HP:0001510 | Growth delay |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002084 | Encephalocele |
| HP:0002188 | Delayed CNS myelination |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002273 | Tetraparesis |
| HP:0002318 | Cervical myelopathy |
| HP:0002352 | Leukoencephalopathy |
| HP:0002650 | Scoliosis |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003429 | CNS hypomyelination |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004586 | Biconcave vertebral bodies |
| HP:0005280 | Depressed nasal bridge |
| HP:0005667 | Os odontoideum |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0007401 | Macular atrophy |
| HP:0007663 | Reduced visual acuity |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007737 | Bone spicule pigmentation of the retina |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0007988 | Macular hypopigmentation |
| HP:0008499 | High hypermetropia |
| HP:0008936 | Axial hypotonia |
| HP:0010582 | Irregular epiphyses |
| HP:0011003 | High myopia |
| HP:0011463 | Childhood onset |
| HP:0012444 | Brain atrophy |
| HP:0012765 | Widened cerebellar subarachnoid space |
| HP:0012795 | Abnormal optic disc morphology |
| HP:0031609 | Geographic atrophy |
| HP:0031936 | Delayed ability to walk |
| HP:0032027 | Retinal dots |
| HP:0032123 | Ultra-low vision |
| HP:0032286 | Ultra-low vision with retained light perception |
| HP:0040079 | Irregular dentition |
| HP:0100660 | Dyskinesia |
| HP:0200056 | Macular scar |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| cone dystrophy | MONDO:0000455 | H35 | chapter7, Diseases of the eye and adnexa | Orphanet:1871 | |
| leber congenital amaurosis 9 | MONDO:0012056 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:608553 | |
| cone-rod dystrophy | MONDO:0015993 | H35 | chapter7, Diseases of the eye and adnexa | OMIMPS:120970 | Orphanet:1872 |
| spondyloepiphyseal dysplasia- sensorineural hearing loss- impaired intellectual development- and leber congenital amaurosis | MONDO:0031007 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:619260 | Orphanet:611207 |