smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: smchd1provided by ZNC
Official Full Name: structural maintenance of chromosomes flexible hinge domain containing 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-050211-6
See related: Ensembl:ENSDARG00000104374 AllianceGenome:ZFIN:ZDB-GENE-050211-6
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: kiaa0650l; kiaao650l
Summary: 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. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: Annotation category: suggests misassembly
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	7	NC_007118.7 (71586252..71661392)
105	previous assembly	GRCz10 (GCF_000002035.5)	7	NC_007118.6 (71345075..71469420)

Chromosome 7 - NC_007118.7 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring.
Title: HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring.

Submit: New GeneRIF Correction

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect definitive hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within double-strand break repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info

Preferred Names: structural maintenance of chromosomes flexible hinge domain-containing protein 1

NEW Try the new Transcript table

The following sections contain reference sequences that belong to a specific genome build. Explain