Gene

smc1a

ID

ZDB-GENE-090506-9

Name

structural maintenance of chromosomes 1A

Symbol

smc1a Nomenclature History

Previous Names

sb:eu719

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Predicted to have ATP binding activity and chromatin binding activity. Involved in central nervous system development and developmental growth. Predicted to localize to cohesin complex and nucleus. Is expressed in central nervous system and tail bud. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2 and early infantile epileptic encephalopathy. Orthologous to human SMC1A (structural maintenance of chromosomes 1A).

Genome Resources

Note

None

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

No data available

Thisse Expression Data

eu719 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from Fazio et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smc1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Cornelia de Lange syndrome 2	Alliance	Cornelia de Lange syndrome 2	300590
		Developmental and epileptic encephalopathy 85, with or without midline brain defects	301044

Associated With smc1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003395	RecF/RecN/SMC, N-terminal
Domain	IPR010935	SMCs flexible hinge
Domain	IPR028468	Smc1, ATP-binding cassette domain
Family	IPR024704	Structural maintenance of chromosomes protein
Family	IPR029683	Structural maintenance of chromosomes protein 1A, metazoan
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036277	SMCs flexible hinge superfamily