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Details of UBA1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| UBA1 | A1S9T,UBE1 | P22314 | UBA1_HUMAN | 7317 | ENSG00000130985 | Ubiquitin-like modifier-activating enzyme 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. Note=The disease is caused by mutations affecting the gene represented in this entry. | 301830 | ||||||||
Phenotypes
Abdominal wall defect, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal internal genitalia, Abnormality of connective tissue, Abnormality of facial skeleton, Abnormality of head and neck, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal wall, Abnormality of the curvature of the vertebral column, Abnormality of the eye, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the musculature, Abnormality of the penis, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the testis, Abnormality of the thorax, Abnormality of the vertebral column, Abnormal muscle tone, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the mandible, Cryptorchidism, Functional respiratory abnormality, Genital hypoplasia, Gonosomal inheritance, Hernia, Hernia of the abdominal wall, Hypoplasia of penis, Hypoplastic genitalia, Inguinal hernia, Micrognathia, Micropenis, Mode of inheritance, Muscular hypotonia, Myopathy, Phenotypic abnormality, Ptosis, Respiratory insufficiency, Scoliosis, Thoracoabdominal wall defects, X-linked inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Uba1 | Uba1 | uba-1 | Sp-Uba1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| UBA1 | MAPK3 | 0.146844029 | UBA1 | MAPK3 | cpx53 | no | no | no | Novel |
| UBA1 | NMD3 | 0.71278288 | UBA1 | NMD3 | cpx53 | no | yes | no | Known |
| UBA1 | NPLOC4 | 0.127586523 | UBA1 | NPLOC4 | cpx53 | no | no | no | Novel |
| UBA1 | LARS | 0.102594434 | UBA1 | LARS | cpx870 | no | yes | no | Known |
| TTC27 | UBA1 | 0.060158902 | TTC27 | UBA1 | cpx53 | no | no | no | Novel |
| AP1B1 | UBA1 | 0.07847207 | AP1B1 | UBA1 | cpx912 | no | no | no | Novel |
| MSH2 | UBA1 | 0.047813391 | MSH2 | UBA1 | cpx53 | no | no | no | Novel |
| ASNS | UBA1 | 0.146461725 | ASNS | UBA1 | cpx53 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| UBA1 | ARMC6 | 0.082766323 | UBA1 | ARMC6 |
| AP1M1 | UBA1 | 0.105352265 | AP1M1 | UBA1 |
| UBA1 | GFPT1 | 0.121454489 | UBA1 | GFPT1 |
| GDA | UBA1 | 0.08458242 | GDA | UBA1 |
| UBA1 | DPP3 | 0.13242967 | UBA1 | DPP3 |
| UBA1 | AP1S1 | 0.097174281 | UBA1 | AP1S1 |
| UBA1 | LCMT2 | 0.080423665 | UBA1 | LCMT2 |
| MTHFD1 | UBA1 | 0.088657292 | MTHFD1 | UBA1 |
| AHSA1 | UBA1 | 0.074353243 | AHSA1 | UBA1 |
| UBA1 | AP1G1 | 0.16762187 | UBA1 | AP1G1 |
| UBA1 | EEF1E1 | 0.082487578 | UBA1 | EEF1E1 |
| AURKA | UBA1 | 0.129863406 | AURKA | UBA1 |
| UBA1 | ARHGAP1 | 0.098916271 | UBA1 | ARHGAP1 |
| UBA1 | IARS | 0.124285993 | UBA1 | IARS |
| MTPN | UBA1 | 0.090559115 | MTPN | UBA1 |
| SEPT6 | UBA1 | 0.078926663 | SEPT6 | UBA1 |
| UBA1 | UCHL3 | 0.078238586 | UBA1 | UCHL3 |
| UBA1 | NUP93 | 0.076910256 | UBA1 | NUP93 |
| HSD17B10 | UBA1 | 0.10400287 | HSD17B10 | UBA1 |
| CIAPIN1 | UBA1 | 0.256899557 | CIAPIN1 | UBA1 |
| AIMP2 | UBA1 | 0.082062115 | AIMP2 | UBA1 |
| UBA1 | TRIP13 | 0.083576824 | UBA1 | TRIP13 |