2. Gene
  3. Smchd1 - SMC hinge domain containing 1 Gene

Smchd1 - SMC hinge domain containing 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as MommeD1; mKIAA0650; 4931400A14Rik

Gene ID: 74355 | Gene type: protein coding

About Smchd1

Summary

Enables protein homodimerization activity. Involved in inactivation of X chromosome by heterochromatin assembly. Acts upstream of or within dosage compensation by inactivation of X chromosome. Located in Barr body. Is expressed in several structures, including blastocyst and genitourinary system. 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). [provided by Alliance of Genome Resources, Apr 2022]

Smchd1 Products(1)

mRNA Protein Name
NM_028887.4 NP_083163.3 structural maintenance of chromosomes flexible hinge domain-containing protein 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
26391951 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
26391951 MGI
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
26391951 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within inactivation of paternal X chromosome by genomic imprinting IMP
IMP: Inferred from mutant phenotype
18425126 MGI
Cellular Component GO Annotation Evidence Reference Source
located in Barr body IDA
IDA: Inferred from direct assay
18425126 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

structural maintenance of chromosomes flexible hinge domain-containing protein 1

SMC hinge domain-containing protein 1

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13423 SMCHD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Smchd1 NCBI NCBI:23347