Gene

sptan1

ID
ZDB-GENE-051113-60
Name
spectrin alpha, non-erythrocytic 1
Symbol
sptan1 Nomenclature History
Previous Names
  • spna2 (1)
  • alpha2 spectrin (1)
  • im:7157190
  • wu:fa20e05
  • wu:fb33g08
  • wu:fk32a10
  • zgc:112229
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have actin binding activity; calcium ion binding activity; and calmodulin binding activity. Involved in clustering of voltage-gated sodium channels. Localizes to node of Ranvier and paranode region of axon. Is expressed in several structures, including cranial ganglion; eye; fin; immature eye; and post-vent region. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).
Genome Resources
Note
None
Expression
All Expression Data
15 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Voas et al., 2007
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sptan1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 5 Alliance Developmental and epileptic encephalopathy 5 613477
Associated With sptan1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018247 EF-Hand 1, calcium-binding site
Domain IPR001452 SH3 domain
Domain IPR002048 EF-hand domain
Domain IPR014837 EF-hand, Ca insensitive
Domain IPR035825 Alpha Spectrin, SH3 domain
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR036028 SH3-like domain superfamily
Repeat IPR002017 Spectrin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Alpha Spectrin, SH3 domain EF-Hand 1, calcium-binding site EF-hand, Ca insensitive EF-hand domain EF-hand domain pair SH3 domain SH3-like domain superfamily Spectrin/alpha-actinin Spectrin repeat
UniProtKB:Q56A42 477
UniProtKB:Q32P38 77
UniProtKB:F1R446 2480
UniProtKB:A3FG33 2480
UniProtKB:D6QWZ7 65
UniProtKB:F1QDX2 179
UniProtKB:F1R445 475
UniProtKB:Q566W8 443
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations