Gene

obsl1a

ID

ZDB-GENE-060503-649

Name

obscurin like cytoskeletal adaptor 1a

Symbol

obsl1a Nomenclature History

Previous Names

OBSL1.1 (1)
obsl1
si:dkey-91f15.5

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in 3-M syndrome. Is expressed in immature eye and somite. Orthologous to human OBSL1 (obscurin like cytoskeletal adaptor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from Boyle Anderson et al., 2018

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With obsl1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
3-M syndrome	Alliance	3-M syndrome 2	612921

Associated With obsl1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003598	Immunoglobulin subtype 2
Domain	IPR003599	Immunoglobulin domain subtype
Domain	IPR003961	Fibronectin type III
Domain	IPR007110	Immunoglobulin-like domain
Domain	IPR013098	Immunoglobulin I-set
Domain	IPR013151	Immunoglobulin-like beta-sandwich domain
Family	IPR052385	Obscurin and Obscurin-like Regulators
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily
Homologous_superfamily	IPR036179	Immunoglobulin-like domain superfamily