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. Used to study Cornelia de Lange syndrome. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2. Is expressed in several structures, including cranium; digestive system; nervous system; optic cup; and otic vesicle. Orthologous to human SMC1A (structural maintenance of chromosomes 1A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
developmental and epileptic encephalopathy 85 Alliance Developmental and epileptic encephalopathy 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
Domain IPR028468 Smc1, ATP-binding cassette domain
Family IPR024704 Structural maintenance of chromosomes protein
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
UniProtKB:Q6DRM9 1233
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations