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 enable DNA binding activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in chromosome and membrane. Predicted to be part of cohesin complex. Predicted to be active in 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; congestive heart failure; and developmental and epileptic encephalopathy. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6906521 (1 image)
IMAGE:7158706 (1 image)

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

Human Disease	Fish	Conditions	Citations
Cornelia de Lange syndrome	smc1al^{hi1113aTg/hi1113aTg}	standard conditions	Cukrov et al., 2018

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 InterPro	1233

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	smc1al-201 (1) Ensembl	Ensembl	4,396 nt	Select Tool ZFIN BLAST
mRNA	smc1al-202 (1) Ensembl	Ensembl	1,750 nt	Select Tool ZFIN BLAST
mRNA	smc1al-204 (1) Ensembl	Ensembl	4,379 nt	Select Tool ZFIN BLAST
ncRNA	smc1al-003 (1) Ensembl	Ensembl	746 nt	Select Tool ZFIN BLAST

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