Gene

svilc

ID

ZDB-GENE-041008-237

Name

supervillin c

Symbol

svilc Nomenclature History

Previous Names

im:7142403 (1)
si:dkeyp-57f11.2 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within cytoskeleton organization. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in anterior macula; hair cell; inner ear; posterior crista; and posterior macula. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Pollock et al., 2016

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 svilc Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
myofibrillar myopathy 10	Alliance	Myofibrillar myopathy 10	619040

Associated With svilc Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003128	Villin headpiece
Domain	IPR007123	Gelsolin-like domain
Family	IPR007122	Villin/Gelsolin
Homologous_superfamily	IPR029006	ADF-H/Gelsolin-like domain superfamily
Homologous_superfamily	IPR036886	Villin headpiece domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:X1WDI1	InterPro	1531
UniProtKB:A0A8M9Q5I0	InterPro	1533
UniProtKB:A0A8M9PZL6	InterPro	1508
UniProtKB:A0A8M2BBA7	InterPro	1482
UniProtKB:A0A8M9PGJ6	InterPro	1513
UniProtKB:A0A8M2BBQ1	InterPro	1425
UniProtKB:A0A8M3AY77	InterPro	1532
UniProtKB:A0A8M9PTM3	InterPro	1510

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	si:dkeyp-57f11.2-201 (1) Ensembl	Ensembl		832 nt	Select Tool ZFIN BLAST
mRNA	si:dkeyp-57f11.2-202 (1) Ensembl	Ensembl		4,901 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

Citations