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 calcium ion binding activity. Involved in clustering of voltage-gated sodium channels. Localizes to node of Ranvier and paranode region of axon. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 5. Is expressed in several structures, including cranial ganglion; eye; fin; immature eye; and post-vent region. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
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:A3FG33 2480
UniProtKB:Q56A42 477
UniProtKB:F1QDX2 179
UniProtKB:F1R445 475
UniProtKB:Q32P38 77
UniProtKB:F1R446 2480
UniProtKB:Q566W8 443
UniProtKB:D6QWZ7 65
Transcripts
Genome Browsers
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