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Details of SMC1A gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SMC1A | DXS423E,KIAA0178,SB1.8,SMC1,SMC1L1 | Q14683 | SMC1A_HUMAN | 8243 | ENSG00000269384 ENSG00000072501 | Structural maintenance of chromosomes protein 1A | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300590 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Smc1a | SMC1 | him-1 | Sp-Smc1L1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SMC1A | NDC80 | 0.490061631 | SMC1A | NDC80 | cpx290 | no | no | no | Novel |
| SMC1A | PDS5A | 1 | SMC1A | PDS5A | cpx73 | yes | yes | yes | Known |
| SMC1A | PDS5B | 1 | SMC1A | PDS5B | cpx73 | yes | yes | yes | Known |
| SMC1A | RAD21 | 1 | SMC1A | RAD21 | cpx73 | yes | yes | yes | Known |
| STAG2 | SMC1A | 1 | STAG2 | SMC1A | cpx73 | yes | yes | no | Known |
| RFC1 | SMC1A | 0.11801212 | RFC1 | SMC1A | cpx290 | no | no | no | Novel |
| STAG1 | SMC1A | 1 | STAG1 | SMC1A | cpx73 | yes | no | no | Known |
| SMC1A | SMC2 | 0.354832798 | SMC1A | SMC2 | cpx290 | no | no | yes | Known |
| SMC1A | SMC3 | 1 | SMC1A | SMC3 | cpx73 | yes | yes | yes | Known |