Gene
smchd1
- ID
- ZDB-GENE-050211-6
- Name
- structural maintenance of chromosomes flexible hinge domain containing 1
- Symbol
- smchd1 Nomenclature History
- Previous Names
-
- kiaa0650l
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Involved in embryonic cranial skeleton morphogenesis. Predicted to localize to chromosome. Used to study choanal atresia. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Is expressed in blood cell; caudal hematopoietic tissue; intermediate cell mass of mesoderm; and posterior lateral mesoderm. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| facioscapulohumeral muscular dystrophy 2 | Alliance | Facioscapulohumeral muscular dystrophy 2, digenic | 158901 |
| Bosma arhinia microphthalmia syndrome | 603457 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| choanal atresia | zf195Tg + CRISPR1-smchd1 (AB) | standard conditions | Shaw et al., 2017 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR010935 | SMCs flexible hinge |
| Family | IPR038892 | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 |
| Homologous_superfamily | IPR036277 | SMCs flexible hinge superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
Domain Details Per Protein
| Protein | Length | Histidine kinase/HSP90-like ATPase superfamily | SMCs flexible hinge | SMCs flexible hinge superfamily | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AUP8
|
1983 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smchd1-201
(1)
|
Ensembl | 6,420 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance