ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ATP binding activity. Acts upstream of or within with a positive effect on definitive hemopoiesis. Acts upstream of or within bone development and embryonic cranial skeleton morphogenesis. Predicted to be located in chromosome. Is expressed in head; hematopoietic system; mesoderm; and oocyte. Used to study choanal atresia. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2 and microphthalmia. 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 |
| Domain | IPR055109 | SMCHD1, ribosomal S5 domain 2-like domain |
| Domain | IPR058611 | SMCHD1, Ig-like domain 1 |
| Domain | IPR058612 | SMCHD1, Ig-like domain 2 |
| Domain | IPR058613 | SMCHD1, Ig-like domain 4 |
| Domain | IPR058614 | SMCHD1, Ig-like domain 5 |
| Domain | IPR058615 | SMCHD1, Ig-like domain 6 |
| Domain | IPR058616 | SMCHD1, Ig-like domain 8 |
| Domain | IPR058617 | SMCHD1, Ig-like domain 7 |
| Family | IPR038892 | SMCHD1 |
| Homologous_superfamily | IPR036277 | SMCs flexible hinge superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Histidine kinase/HSP90-like ATPase superfamily | SMCHD1 | SMCHD1, Ig-like domain 1 | SMCHD1, Ig-like domain 2 | SMCHD1, Ig-like domain 4 | SMCHD1, Ig-like domain 5 | SMCHD1, Ig-like domain 6 | SMCHD1, Ig-like domain 7 | SMCHD1, Ig-like domain 8 | SMCHD1, ribosomal S5 domain 2-like domain | SMCs flexible hinge | SMCs flexible hinge superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AUP8 | InterPro | 1983 | ||||||||||||
| UniProtKB:A0AC58G1R0 | InterPro | 1212 |
- Genome Browsers
| 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
- Genome Browsers
- Comparative Orthology
- Alliance