Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.-
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
2.3.1.48
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
histone acetyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4DHX | 2.1 | ENY2:GANP complex |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006406 | mRNA export from nucleus |
| Biological Process | GO:0034728 | nucleosome organization |
| Biological Process | GO:0016973 | poly(A)+ mRNA export from nucleus |
| Biological Process | GO:0015031 | protein transport |
| Biological Process | GO:0016446 | somatic hypermutation of immunoglobulin genes |
| Molecular Function | GO:0003682 | chromatin binding |
| Molecular Function | GO:0010484 | histone H3 acetyltransferase activity |
| Molecular Function | GO:0004402 | histone acetyltransferase activity |
| Molecular Function | GO:0042393 | histone binding |
| Molecular Function | GO:0003676 | nucleic acid binding |
| Cellular Component | GO:0005694 | chromosome |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0031965 | nuclear membrane |
| Cellular Component | GO:0044615 | nuclear pore nuclear basket |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0070390 | transcription export complex 2 |
| InterPro
|
InterPro name |
|---|---|
| IPR000717 | Proteasome component (PCI) domain |
| IPR005062 | SAC3/GANP/THP3, conserved domain |
| IPR031907 | Germinal-centre associated nuclear protein, MCM3AP domain |
| IPR031908 | Germinal-centre associated nuclear protein, nucleoporin homology domain |
| IPR031910 | Germinal-centre associated nuclear protein, CID domain |
| IPR034265 | MCM3AP, RNA recognition motif |
| IPR035979 | RNA-binding domain superfamily |
| IPR045107 | SAC3/GANP/THP3 |
| Pfam
|
Pfam name |
|---|---|
| PF03399 | SAC3/GANP family |
| PF16766 | Binding region of GANP to ENY2 |
| PF16768 | Nucleoporin homology of Germinal-centre associated nuclear protein |
| PF16769 | MCM3AP domain of GANP |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Chromosome | ECO:0000269 | PubMed:23652018 |
| Cytoplasm | ECO:0000269 | PubMed:12226073 |
| Cytoplasm | ECO:0000269 | PubMed:21195085 |
| Nucleus | ECO:0000269 | PubMed:12226073 |
| Nucleus | ECO:0000269 | PubMed:21195085 |
| Nucleus envelope | ECO:0000269 | PubMed:20005110 |
| Nucleus envelope | ECO:0000269 | PubMed:21195085 |
| Nucleus envelope | ECO:0000269 | PubMed:22307388 |
| Nucleus envelope | ECO:0000269 | PubMed:23591820 |
| Nucleus envelope | ECO:0000269 | PubMed:28633435 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:22307388 |
| Nucleus, nuclear pore complex | ECO:0000269 | PubMed:23591820 |
| Nucleus, nucleoplasm | ECO:0000269 | PubMed:20005110 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000602 | Ophthalmoplegia |
| HP:0000750 | Delayed speech and language development |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001513 | Obesity |
| HP:0001761 | Pes cavus |
| HP:0002317 | Unsteady gait |
| HP:0002460 | Distal muscle weakness |
| HP:0002505 | Loss of ambulation |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002650 | Scoliosis |
| HP:0002705 | High, narrow palate |
| HP:0002808 | Kyphosis |
| HP:0002870 | Obstructive sleep apnea |
| HP:0002936 | Distal sensory impairment |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003577 | Congenital onset |
| HP:0003621 | Juvenile onset |
| HP:0003677 | Slowly progressive |
| HP:0004322 | Short stature |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007328 | Impaired pain sensation |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0011463 | Childhood onset |
| HP:0031936 | Delayed ability to walk |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | High | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | glandular cells | High | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | High | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cerebral cortex | neuropil | High | Approved |
| cervix | glandular cells | High | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | High | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Low | Approved |
| lung | alveolar cells | High | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | High | Approved |
| nasopharynx | respiratory epithelial cells | High | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | High | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | High | Approved |
| skin 1 | Langerhans | High | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | High | Approved |
| skin 1 | melanocytes | High | Approved |
| skin 2 | epidermal cells | High | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | chondrocytes | Medium | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | High | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | Low | Approved |
| testis | elongated or late spermatids | Medium | Approved |
| testis | pachytene spermatocytes | High | Approved |
| testis | preleptotene spermatocytes | High | Approved |
| testis | round or early spermatids | High | Approved |
| testis | sertoli cells | Low | Approved |
| testis | spermatogonia cells | High | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | non-germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| peripheral neuropathy- autosomal recessive- with or without impaired intellectual development | MONDO:0029131 | - | - | OMIM:618124 |