Gene

mbnl1

ID

ZDB-GENE-060929-704

Name

muscleblind-like splicing regulator 1

Symbol

mbnl1 Nomenclature History

Previous Names

zgc:153954

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to enable RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including blood; gonad; heart; nervous system; and swim bladder. Used to study myotonic disease. Orthologous to human MBNL1 (muscleblind like splicing regulator 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 5 publications

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: 2 figures from Hinman et al., 2021
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mbnl1 Human Ortholog

No data available

Associated With mbnl1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
myotonic disease	mbnl1^b1358/b1358	standard conditions	Hinman et al., 2021
myotonic disease	mbnl1^b1359/b1359	standard conditions	Hinman et al., 2021

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000571	Zinc finger, CCCH-type
Domain	IPR054429	Muscleblind-like, CCCH zinc finger

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A5YC46	InterPro	412
UniProtKB:Q08BY7	InterPro	303
UniProtKB:A0A8M1NE31	InterPro	412

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mbnl1-201 (1) Ensembl	Ensembl	1,894 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-202 (1) Ensembl	Ensembl	1,912 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-203 (1) Ensembl	Ensembl	1,948 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-204 (1) Ensembl	Ensembl	1,883 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-205 (1) Ensembl	Ensembl	2,124 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-206 (1) Ensembl	Ensembl	1,858 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-207 (1) Ensembl	Ensembl	912 nt	Select Tool ZFIN BLAST
mRNA	mbnl1-208 (1) Ensembl	Ensembl	2,178 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