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Details of SEC63 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SEC63 | SEC63L | Q9UGP8 | SEC63_HUMAN | 11231 | ENSG00000025796 | Translocation protein SEC63 homolog | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. Note=The disease is caused by mutations affecting the gene represented in this entry. | 174050 | ||||||||
Phenotypes
Abdominal distention, Abdominal symptom, Abnormal axial skeleton morphology, Abnormal bleeding, Abnormality of alkaline phosphatase activity, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the genitourinary system, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lung, Abnormality of the nervous system, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the vertebral column, All, Ascites, Autosomal dominant inheritance, Back pain, Cystic liver disease, Dyspnea, Elevated alkaline phosphatase, Functional respiratory abnormality, Hyperbilirubinemia, Increased total bilirubin, Mode of inheritance, Phenotypic abnormality, Polycystic liver disease, Renal cysts, Respiratory difficulties, Respiratory insufficiency.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Sec63 | sec63 | dnj-29 | Sp-Sec63h | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SEC61A1 | SEC63 | 0.785431759 | SEC61A1 | SEC63 | cpx55 | no | yes | yes | Known |
| ABCC1 | SEC63 | 0.525406688 | ABCC1 | SEC63 | cpx349 | no | yes | no | Known |
| DDOST | SEC63 | 0.270950682 | DDOST | SEC63 | cpx55 | no | no | yes | Known |