Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.1.-
Transferases;
Glycosyltransferases;
Hexosyltransferases;
2.4.1.133
Transferases;
Glycosyltransferases;
Hexosyltransferases;
xylosylprotein 4-β-galactosyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4IRP | 2.1 | Crystal structure of catalytic domain of human beta1,4-galactosyltransferase-7 in open conformation with manganses and UDP |
| 4IRQ | 2.3 | Crystal structure of catalytic domain of human beta1,4galactosyltransferase 7 in closed conformation in complex with manganese and UDP |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0005975 | carbohydrate metabolic process |
| Biological Process | GO:0006024 | glycosaminoglycan biosynthetic process |
| Biological Process | GO:0030203 | glycosaminoglycan metabolic process |
| Biological Process | GO:0048147 | negative regulation of fibroblast proliferation |
| Biological Process | GO:0006487 | protein N-linked glycosylation |
| Biological Process | GO:0036211 | protein modification process |
| Biological Process | GO:0030166 | proteoglycan biosynthetic process |
| Biological Process | GO:0006029 | proteoglycan metabolic process |
| Biological Process | GO:0097435 | supramolecular fiber organization |
| Molecular Function | GO:0003831 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity |
| Molecular Function | GO:0008378 | galactosyltransferase activity |
| Molecular Function | GO:0030145 | manganese ion binding |
| Molecular Function | GO:0046525 | xylosylprotein 4-beta-galactosyltransferase activity |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0032580 | Golgi cisterna membrane |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0016020 | membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR003859 | Beta-1,4-galactosyltransferase |
| IPR027791 | Galactosyltransferase, C-terminal |
| IPR027995 | Galactosyltransferase, N-terminal |
| IPR029044 | Nucleotide-diphospho-sugar transferases |
| Pfam
|
Pfam name |
|---|---|
| PF02709 | N-terminal domain of galactosyltransferase |
| PF13733 | N-terminal region of glycosyl transferase group 7 |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1971475 | A tetrasaccharide linker sequence is required for GAG synthesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-3560783 | Defective B4GALT7 causes EDS, progeroid type | Leaf | R-HSA-1643685 | Disease |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000160 | Narrow mouth |
| HP:0000175 | Cleft palate |
| HP:0000193 | Bifid uvula |
| HP:0000230 | Gingivitis |
| HP:0000256 | Macrocephaly |
| HP:0000274 | Small face |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000337 | Broad forehead |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000387 | Absent earlobe |
| HP:0000431 | Wide nasal bridge |
| HP:0000506 | Telecanthus |
| HP:0000520 | Proptosis |
| HP:0000540 | Hypermetropia |
| HP:0000592 | Blue sclerae |
| HP:0000653 | Sparse eyelashes |
| HP:0000768 | Pectus carinatum |
| HP:0000774 | Narrow chest |
| HP:0000894 | Short clavicles |
| HP:0000938 | Osteopenia |
| HP:0000954 | Single transverse palmar crease |
| HP:0000963 | Thin skin |
| HP:0000973 | Cutis laxa |
| HP:0000974 | Hyperextensible skin |
| HP:0000987 | Atypical scarring of skin |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001075 | Atrophic scars |
| HP:0001166 | Arachnodactyly |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001363 | Craniosynostosis |
| HP:0001371 | Flexion contracture |
| HP:0001373 | Joint dislocation |
| HP:0001388 | Joint laxity |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001642 | Pulmonic stenosis |
| HP:0001650 | Aortic valve stenosis |
| HP:0001762 | Talipes equinovarus |
| HP:0001763 | Pes planus |
| HP:0001772 | Talipes equinovalgus |
| HP:0001999 | Abnormal facial shape |
| HP:0002209 | Sparse scalp hair |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
| HP:0002673 | Coxa valga |
| HP:0002751 | Kyphoscoliosis |
| HP:0002757 | Recurrent fractures |
| HP:0002816 | Genu recurvatum |
| HP:0002974 | Radioulnar synostosis |
| HP:0003015 | Flared metaphysis |
| HP:0003083 | Dislocated radial head |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0004322 | Short stature |
| HP:0004425 | Flat forehead |
| HP:0005328 | Progeroid facial appearance |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0005692 | Joint hyperflexibility |
| HP:0006243 | Phalangeal dislocation |
| HP:0006481 | Abnormality of primary teeth |
| HP:0006487 | Bowing of the long bones |
| HP:0007469 | Palmoplantar cutis gyrata |
| HP:0009125 | Lipodystrophy |
| HP:0010511 | Long toe |
| HP:0011308 | Slender toe |
| HP:0011342 | Mild global developmental delay |
| HP:0011800 | Midface retrusion |
| HP:0012368 | Flat face |
| HP:0045075 | Sparse eyebrow |
| HP:0100813 | Testicular torsion |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | High | Supported |
| bone marrow | hematopoietic cells | Low | Supported |
| breast | glandular cells | Medium | Supported |
| bronchus | ciliated cells (cell body) | Medium | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells - cytoplasm/membrane | High | Supported |
| cerebellum | Purkinje cells - dendrites | High | Supported |
| cerebellum | processes in granular layer | High | Supported |
| cerebellum | processes in molecular layer | Medium | Supported |
| cerebellum | processes in white matter | High | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cerebral cortex | neuropil | Low | Supported |
| colon | glandular cells | High | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | High | Supported |
| fallopian tube | ciliated cells (cell body) | Medium | Supported |
| fallopian tube | ciliated cells (ciliary rootlets) | Medium | Supported |
| fallopian tube | ciliated cells (tip of cilia) | Low | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | High | Supported |
| hippocampus | neuronal cells | High | Supported |
| kidney | cells in tubules | High | Supported |
| lung | alveolar cells type II | Medium | Supported |
| lung | macrophages | Medium | Supported |
| lymph node | non-germinal center cells | Low | Supported |
| nasopharynx | ciliated cells (cell body) | Medium | Supported |
| ovary | follicle cells | High | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Low | Supported |
| placenta | decidual cells | High | Supported |
| placenta | trophoblastic cells | Medium | Supported |
| prostate | glandular cells | Low | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | Leydig cells | Medium | Supported |
| testis | spermatogonia cells | Medium | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Low | Supported |
| tonsil | non-germinal center cells | Low | Supported |
| tonsil | squamous epithelial cells | Low | Supported |
| urinary bladder | urothelial cells | High | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| larsen-like syndrome, b3gat3 type | MONDO:0009511 | Q74 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:245600 | Orphanet:284139 |
| ehlers-danlos syndrome, spondylodysplastic type, 1 | MONDO:0020682 | Q79 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:130070 |