Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.1.1.-
Transferases;
Transferring one-carbon groups;
Methyltransferases;
2.1.1.203
Transferases;
Transferring one-carbon groups;
Methyltransferases;
tRNA (cytosine34-C5)-methyltransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0051301 | cell division |
| Biological Process | GO:0048820 | hair follicle maturation |
| Biological Process | GO:0001701 | in utero embryonic development |
| Biological Process | GO:0080009 | mRNA methylation |
| Biological Process | GO:0033313 | meiotic cell cycle checkpoint signaling |
| Biological Process | GO:0010793 | regulation of mRNA export from nucleus |
| Biological Process | GO:2000736 | regulation of stem cell differentiation |
| Biological Process | GO:0007286 | spermatid development |
| Biological Process | GO:0030488 | tRNA methylation |
| Biological Process | GO:0006400 | tRNA modification |
| Biological Process | GO:0036416 | tRNA stabilization |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0062152 | mRNA (cytidine-5-)-methyltransferase activity |
| Molecular Function | GO:0016428 | tRNA (cytosine-5-)-methyltransferase activity |
| Molecular Function | GO:0000049 | tRNA binding |
| Cellular Component | GO:0033391 | chromatoid body |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005730 | nucleolus |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005819 | spindle |
| InterPro
|
InterPro name |
|---|---|
| IPR001678 | SAM-dependent methyltransferase RsmB/NOP2-type |
| IPR023267 | RNA (C5-cytosine) methyltransferase |
| IPR023270 | tRNA (C5-cytosine) methyltransferase, NCL1 |
| IPR029063 | S-adenosyl-L-methionine-dependent methyltransferase superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF01189 | 16S rRNA methyltransferase RsmB/F |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol | Internal node | R-HSA-8953854 | Metabolism of RNA |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:17071714 |
| Cytoplasm | ECO:0000269 | PubMed:31276587 |
| Cytoplasm, cytoskeleton, spindle | ECO:0000269 | PubMed:19596847 |
| Mitochondrion | ECO:0000269 | PubMed:31276587 |
| Mitochondrion | ECO:0000269 | PubMed:31287866 |
| Nucleus, nucleolus | ECO:0000269 | PubMed:17071714 |
| Nucleus, nucleolus | ECO:0000269 | PubMed:17215513 |
| Nucleus, nucleolus | ECO:0000269 | PubMed:31276587 |
| Secreted, extracellular exosome | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000055 | Abnormality of female external genitalia |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000164 | Abnormality of the dentition |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000215 | Thick upper lip vermilion |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000275 | Narrow face |
| HP:0000276 | Long face |
| HP:0000286 | Epicanthus |
| HP:0000294 | Low anterior hairline |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000322 | Short philtrum |
| HP:0000331 | Short chin |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000411 | Protruding ear |
| HP:0000426 | Prominent nasal bridge |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000431 | Wide nasal bridge |
| HP:0000448 | Prominent nose |
| HP:0000486 | Strabismus |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| HP:0000574 | Thick eyebrow |
| HP:0000581 | Blepharophimosis |
| HP:0000601 | Hypotelorism |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000666 | Horizontal nystagmus |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0000829 | Hypoparathyroidism |
| HP:0000958 | Dry skin |
| HP:0000960 | Sacral dimple |
| HP:0000964 | Eczema |
| HP:0000965 | Cutis marmorata |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001156 | Brachydactyly |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001347 | Hyperreflexia |
| HP:0001363 | Craniosynostosis |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0001761 | Pes cavus |
| HP:0001770 | Toe syndactyly |
| HP:0001771 | Achilles tendon contracture |
| HP:0001773 | Short foot |
| HP:0001800 | Hypoplastic toenails |
| HP:0001840 | Metatarsus adductus |
| HP:0001852 | Sandal gap |
| HP:0001873 | Thrombocytopenia |
| HP:0001874 | Abnormality of neutrophils |
| HP:0001903 | Anemia |
| HP:0002024 | Malabsorption |
| HP:0002025 | Anal stenosis |
| HP:0002028 | Chronic diarrhea |
| HP:0002035 | Rectal prolapse |
| HP:0002093 | Respiratory insufficiency |
| HP:0002099 | Asthma |
| HP:0002136 | Broad-based gait |
| HP:0002209 | Sparse scalp hair |
| HP:0002213 | Fine hair |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002650 | Scoliosis |
| HP:0002664 | Neoplasm |
| HP:0002665 | Lymphoma |
| HP:0002719 | Recurrent infections |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003298 | Spina bifida occulta |
| HP:0003593 | Infantile onset |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004692 | 4-5 toe syndactyly |
| HP:0005280 | Depressed nasal bridge |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0005692 | Joint hyperflexibility |
| HP:0006721 | Acute lymphoblastic leukemia |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0008070 | Sparse hair |
| HP:0008897 | Postnatal growth retardation |
| HP:0008936 | Axial hypotonia |
| HP:0009601 | Aplasia/Hypoplasia of the thumb |
| HP:0009602 | Abnormality of thumb phalanx |
| HP:0009738 | Abnormal antihelix morphology |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0011304 | Broad thumb |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0200055 | Small hand |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | Low | Supported |
| breast | glandular cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | Low | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells | Low | Supported |
| cerebellum | cells in molecular layer | Low | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | Low | Supported |
| cerebral cortex | neuronal cells | Medium | Supported |
| cervix | glandular cells | Medium | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | Low | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | cells in endometrial stroma | Low | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Low | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | Medium | Supported |
| hippocampus | glial cells | Low | Supported |
| hippocampus | neuronal cells | Medium | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | hepatocytes | High | Supported |
| lung | alveolar cells type I | Medium | Supported |
| lung | alveolar cells type II | Low | Supported |
| lung | endothelial cells | Low | Supported |
| lung | macrophages | Low | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | Langerhans | Low | Supported |
| skin 1 | fibroblasts | Low | Supported |
| skin 1 | keratinocytes | Medium | Supported |
| skin 2 | epidermal cells | High | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| soft tissue 1 | fibroblasts | Low | Supported |
| soft tissue 1 | peripheral nerve | Low | Supported |
| soft tissue 2 | fibroblasts | Low | Supported |
| spleen | cells in red pulp | Low | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | Medium | Supported |
| testis | pachytene spermatocytes | Medium | Supported |
| testis | preleptotene spermatocytes | Low | Supported |
| testis | round or early spermatids | Medium | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| dubowitz syndrome | MONDO:0009124 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:223370 | Orphanet:235 |
| intellectual disability- autosomal recessive 5 | MONDO:0012613 | F70 | chapter5, Mental and behavioural disorders | OMIM:611091 | |
| intellectual disability- autosomal recessive 5 | MONDO:0012613 | F71 | chapter5, Mental and behavioural disorders | OMIM:611091 | |
| intellectual disability- autosomal recessive 5 | MONDO:0012613 | F72 | chapter5, Mental and behavioural disorders | OMIM:611091 | |
| intellectual disability- autosomal recessive 5 | MONDO:0012613 | F73 | chapter5, Mental and behavioural disorders | OMIM:611091 |