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
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smchd1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
facioscapulohumeral muscular dystrophy 2 Alliance Fascioscapulohumeral muscular dystrophy 2, digenic 158901
Bosma arhinia microphthalmia syndrome 603457
Associated With smchd1 Via Experimental Models
Gene Ontology
Protein Domains
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:A0A0G2L6F5 1983
UniProtKB:Q5I9I5 1177
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations