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
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
Domain Details Per Protein
Protein Length P-loop containing nucleoside triphosphate hydrolase RecF/RecN/SMC, N-terminal Smc1, ATP-binding cassette domain SMCs flexible hinge SMCs flexible hinge superfamily Structural maintenance of chromosomes protein Structural maintenance of chromosomes protein 1A, metazoan
UniProtKB:E7F0X6 1232
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations