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 enable ATP binding activity. Acts upstream of or within with a positive effect on definitive hemopoiesis. Acts upstream of or within embryonic cranial skeleton morphogenesis. Predicted to be located in chromosome. Is expressed in blood cell; caudal hematopoietic tissue; intermediate cell mass of mesoderm; and posterior lateral mesoderm. Used to study choanal atresia. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1).
Genome Resources
Note
None
Comparative Information
Expression
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
All Phenotype Data
7 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ns301Allele with one deletionExon 4UnknownCRISPR
ns302Allele with one delinsExon 4UnknownCRISPR
ns303Allele with one insertionExon 4UnknownCRISPR
sa18180Allele with one point mutationUnknownPremature StopENU
sa27111Allele with one point mutationUnknownPremature StopENU
sa34256Allele with one point mutationUnknownPremature StopENU
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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 Facioscapulohumeral muscular dystrophy 2, digenic 158901
Bosma arhinia microphthalmia syndrome 603457
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Associated With smchd1 Via Experimental Models
1 - 1 of 1
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
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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
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 7
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA smchd1-201 (1) Ensembl 6,420 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-310J3ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Species Symbol Chromosome Accession # Evidence
HumanSMCHD118
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
1 - 7 of 7
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