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 enable actin filament binding activity. Acts upstream of or within clustering of voltage-gated sodium channels and myelination in peripheral nervous system. Located in 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 developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

16 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7157190 (1 image)
IMAGE:7163298 (1 image)

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
autosomal dominant distal hereditary motor neuronopathy 11	Alliance	Neuronopathy, distal hereditary motor, autosomal dominant 11	620528
developmental and epileptic encephalopathy 5	Alliance	Developmental and epileptic encephalopathy 5	613477
		Developmental delay with or without epilepsy	620540
		Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	620538

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 InterPro	2480
UniProtKB:A0A8M9P3B0 InterPro	2474
UniProtKB:A0A8M9PCM4 InterPro	2496
UniProtKB:A0A8M9PQF8 InterPro	2474
UniProtKB:A0A8M9PCN0 InterPro	2485
UniProtKB:A0A8M9P3A5 InterPro	2490
UniProtKB:A0A8M9PQF2 InterPro	2501
UniProtKB:A0A8M9PI94 InterPro	2481
UniProtKB:A0A8M9PTV0 InterPro	2475
UniProtKB:A0A8M9PI97 InterPro	2455
UniProtKB:A0A8M9PCN5 InterPro	2460

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	sptan1-201 (1) Ensembl	Ensembl	7,875 nt	Select Tool ZFIN BLAST
mRNA	sptan1-202 (1) Ensembl	Ensembl	1,766 nt	Select Tool ZFIN BLAST
mRNA	sptan1-204 (1) Ensembl	Ensembl	538 nt	Select Tool ZFIN BLAST
ncRNA	spna2-003 (1) Ensembl	Ensembl	729 nt	Select Tool ZFIN BLAST
ncRNA	spna2-005 (1) Ensembl	Ensembl	861 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