sil1

ID

ZDB-GENE-160113-49

Name

SIL1 nucleotide exchange factor

Symbol

sil1 Nomenclature History

Previous Names

si:ch211-195b11.7 (1)

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable adenyl-nucleotide exchange factor activity. Acts upstream of or within eye development and skeletal muscle fiber development. Predicted to be active in endoplasmic reticulum. Used to study Marinesco-Sjogren syndrome. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous to human SIL1 (SIL1 nucleotide exchange factor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from Kawahara et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sil1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Marinesco-Sjogren syndrome	Alliance	Marinesco-Sjogren syndrome	248800

Associated With sil1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Marinesco-Sjogren syndrome	AB + MO1-sil1	standard conditions	Kawahara et al., 2016
Marinesco-Sjogren syndrome	AB + MO2-sil1	standard conditions	Kawahara et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR013918	Nucleotide exchange factor Fes1
Family	IPR050693	Hsp70 Nucleotide Exchange Factors and Inhibitors
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold