Preferred Name | Lamin-A/C | |
Synonyms |
|
|
Definitions |
Lamin-A/C (646 aa, ~72 kDa) is encoded by the human LMNA gene. This protein plays a role in the formation of the nuclear lamina. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C136976 |
|
code |
C136976 |
|
Contributing_Source |
CTRP |
|
definition |
Lamin-A/C (646 aa, ~72 kDa) is encoded by the human LMNA gene. This protein plays a role in the formation of the nuclear lamina. |
|
DesignNote |
UniProt considers lamin-A the canonical sequence; lamin-C (572 aa, ~65 kDa) has a different amino acid sequence at residues 567-572 and is missing residues 573-646. Lamin-A and lamin-C are present in equal amounts in the nuclear lamina and form dimers. (UniProt) |
|
Display_Name |
Lamin-A/C |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
|
label |
Lamin-A/C |
|
OMIM_Number |
150330 |
|
Preferred_Name |
Lamin-A/C |
|
prefixIRI |
NCIT:C136976 |
|
prefLabel |
Lamin-A/C |
|
Semantic_Type |
Amino Acid, Peptide, or Protein |
|
Swiss_Prot |
P02545 |
|
UMLS_CUI |
C0125258 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.org/skeletome/bonedysplasia#P000104 | BDO | LOOM | |
http://purl.bioontology.org/ontology/OMIM/150330 | OMIM | LOOM | |
http://www.orpha.net/ORDO/Orphanet_123090 | ORDO | LOOM | |
http://www.limics.org/hrdo/rdfns#gen_id_16364 | HRDO | LOOM | |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C136976 | NCIT | LOOM |