Gene

sptbn1

ID

ZDB-GENE-031006-3

Name

spectrin, beta, non-erythrocytic 1

Symbol

sptbn1 Nomenclature History

Previous Names

fb30a06
fb92e08
si:zfos-1837d3.1
wu:fb30a06
wu:fb92e08
zmp:0000000587
zmp:0000000859

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to enable actin binding activity and phospholipid binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in actin filament capping. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of spectrin. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1).

Genome Resources

Note

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

GEO (1)

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 sptbn1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Developmental delay, impaired speech, and behavioral abnormalities	619475

Associated With sptbn1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001605	Pleckstrin homology domain, spectrin-type
Domain	IPR001715	Calponin homology domain
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR041681	Pleckstrin homology domain 9
Family	IPR016343	Spectrin, beta subunit
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR002017	Spectrin repeat
Repeat	IPR018159	Spectrin/alpha-actinin