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

7 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

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

Associated With smchd1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
choanal atresia	zf195Tg + CRISPR1-smchd1 (AB)	standard conditions	Shaw et al., 2017

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:A0A8M3AUP8 InterPro	1983

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	smchd1-201 (1) Ensembl	Havana	6420 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations