Gene

smc1al

ID
ZDB-GENE-040426-57
Name
structural maintenance of chromosomes 1A, like
Symbol
smc1al Nomenclature History
Previous Names
  • smc1a (1)
  • smc1l1 (1)
  • im:7158706
  • SMC1 structural maintenance of chromosomes 1-like 1 (yeast)
  • zgc:76902
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to have ATP binding activity and chromatin binding activity. Involved in embryonic viscerocranium morphogenesis. Predicted to localize to cohesin complex; integral component of membrane; and nucleus. Is expressed in several structures, including cranium; digestive system; nervous system; optic cup; and otic vesicle. Used to study Cornelia de Lange syndrome. 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
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smc1al 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
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 301044
Associated With smc1al Via Experimental Models
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
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 SMCs flexible hinge SMCs flexible hinge superfamily Structural maintenance of chromosomes protein Structural maintenance of chromosomes protein 1A, metazoan
UniProtKB:Q7SXX2 414
UniProtKB:Q6DRM9 1233
UniProtKB:Q6NYA8 285
UniProtKB:A0A2R8QCL7 1251
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations