Dync1h1 - dynein cytoplasmic 1 heavy chain 1 Gene
Also Known as Loa; P22; Swl; DHC1; DNCL; DHC1a; Dnec1; Dnecl; MAP1C; Dnchc1; mKIAA0325; 9930018I23Rik
Species: Mus musculus
Summary
Enables dynein light intermediate chain binding activity. Involved in P-body assembly; positive regulation of cold-induced thermogenesis; and stress granule assembly. Located in cytoplasm and filopodium. Is expressed in several structures, including early conceptus; nervous system; neural retina; placenta; and spleen. Used to study Charcot-Marie-Tooth disease axonal type 2O. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant non-syndromic intellectual disability 13; and spinal muscular atrophy with lower extremity predominance 1. Orthologous to human DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). [provided by Alliance of Genome Resources, Apr 2022]
Dync1h1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_030238.2 | NP_084514.2 | cytoplasmic dynein 1 heavy chain 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables dynein light intermediate chain binding |
IPI
IPI: Inferred from physical interaction
|
16496424 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16267818 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in P-body assembly |
IMP
IMP: Inferred from mutant phenotype
|
19825938 | MGI |
| involved in positive regulation of cold-induced thermogenesis |
IMP
IMP: Inferred from mutant phenotype
|
20887786 | MGI |
| involved in stress granule assembly |
IMP
IMP: Inferred from mutant phenotype
|
19825938 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16496424 | MGI |
| located in filopodium |
IDA
IDA: Inferred from direct assay
|
16496424 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cytoplasmic dynein 1 heavy chain 1 |
|
|