sptan1 spectrin alpha, non-erythrocytic 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: sptan1provided by ZNC
Official Full Name: spectrin alpha, non-erythrocytic 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-051113-60
See related: Ensembl:ENSDARG00000019231 AllianceGenome:ZFIN:ZDB-GENE-051113-60
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: spna2; im:7157190; wu:fa20e05; wu:fb33g08; wu:fk32a10; zgc:112229
Summary: 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 bone tissue; cranial ganglion; eye; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (13150954..13217905)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (13053930..13120917)

Chromosome 21 - NC_007132.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AlphaII-spectrin in the axonal cytoskeleton is essential for stabilizing nascent sodium-channel clusters and assembling the mature node of Ranvier.
Title: alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

fc45a03.x1 (e-PCR)
- UniSTS:193896

fk32a10.y1 (e-PCR)
- UniSTS:200813

fb33g08.x1 (e-PCR)
- UniSTS:203122

fa20e05.s1 (e-PCR)
- UniSTS:202465

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament capping	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within clustering of voltage-gated sodium channels	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in node of Ranvier	IDA Inferred from Direct Assay more info	PubMed
located_in paranode region of axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: spectrin alpha chain, non-erythrocytic 1

Names: alpha2 spectrin; spectrin alpha 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001098488.1 → NP_001091958.1 spectrin alpha chain, non-erythrocytic 1

See identical proteins and their annotated locations for NP_001091958.1

Status: PROVISIONAL

Source sequence(s)

EF375552

UniProtKB/TrEMBL

A3FG33

Related

ENSDARP00000093027.3, ENSDART00000102251.5

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2335 → 2403

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1666 → 1770

Spectrin; Spectrin repeat

pfam08726
Location:2410 → 2478

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2338 → 2403

EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007132.7 Reference GRCz11 Primary Assembly

Range

13150954..13217905

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021468824.2 → XP_021324499.1 spectrin alpha chain, non-erythrocytic 1 isoform X2

UniProtKB/TrEMBL

A0A8M9PQF2

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2356 → 2424

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1666 → 1770

Spectrin; Spectrin repeat

pfam08726
Location:2431 → 2499

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468826.2 → XP_021324501.1 spectrin alpha chain, non-erythrocytic 1 isoform X2

UniProtKB/TrEMBL

A0A8M9PQF2

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2356 → 2424

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1666 → 1770

Spectrin; Spectrin repeat

pfam08726
Location:2431 → 2499

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468825.2 → XP_021324500.1 spectrin alpha chain, non-erythrocytic 1 isoform X2

UniProtKB/TrEMBL

A0A8M9PQF2

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2356 → 2424

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1666 → 1770

Spectrin; Spectrin repeat

pfam08726
Location:2431 → 2499

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468831.1 → XP_021324506.1 spectrin alpha chain, non-erythrocytic 1 isoform X8

UniProtKB/TrEMBL

A0A8M9PQF8

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2329 → 2397

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1666 → 1770

Spectrin; Spectrin repeat

pfam08726
Location:2404 → 2472

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468823.1 → XP_021324498.1 spectrin alpha chain, non-erythrocytic 1 isoform X1

UniProtKB/TrEMBL

A0A8M9PCM4

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2351 → 2419

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1661 → 1765

Spectrin; Spectrin repeat

pfam08726
Location:2426 → 2494

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468830.1 → XP_021324505.1 spectrin alpha chain, non-erythrocytic 1 isoform X7

UniProtKB/TrEMBL

A0A8M9PTV0

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2330 → 2398

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1661 → 1765

Spectrin; Spectrin repeat

pfam08726
Location:2405 → 2473

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468828.1 → XP_021324503.1 spectrin alpha chain, non-erythrocytic 1 isoform X4

UniProtKB/TrEMBL

A0A8M9PCN0

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2340 → 2408

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1650 → 1754

Spectrin; Spectrin repeat

pfam08726
Location:2415 → 2483

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_068215867.1 → XP_068071968.1 spectrin alpha chain, non-erythrocytic 1 isoform X6
XM_021468827.1 → XP_021324502.1 spectrin alpha chain, non-erythrocytic 1 isoform X3

UniProtKB/TrEMBL

A0A8M9P3A5

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2345 → 2413

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1655 → 1759

Spectrin; Spectrin repeat

pfam08726
Location:2420 → 2488

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468832.1 → XP_021324507.1 spectrin alpha chain, non-erythrocytic 1 isoform X9

UniProtKB/TrEMBL

A0A8M9P3B0

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2329 → 2397

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1639 → 1743

Spectrin; Spectrin repeat

pfam08726
Location:2404 → 2472

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468829.1 → XP_021324504.1 spectrin alpha chain, non-erythrocytic 1 isoform X5

UniProtKB/TrEMBL

A0A8M9PI94

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2336 → 2404

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1646 → 1750

Spectrin; Spectrin repeat

pfam08726
Location:2411 → 2479

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468833.1 → XP_021324508.1 spectrin alpha chain, non-erythrocytic 1 isoform X10

UniProtKB/TrEMBL

A0A8M9PCN5

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2315 → 2383

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1646 → 1750

Spectrin; Spectrin repeat

pfam08726
Location:2390 → 2458

EFhand_Ca_insen; Ca2+ insensitive EF hand
XM_021468834.1 → XP_021324509.1 spectrin alpha chain, non-erythrocytic 1 isoform X11

UniProtKB/TrEMBL

A0A8M9PI97

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2310 → 2378

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1641 → 1745

Spectrin; Spectrin repeat

pfam08726
Location:2385 → 2453

EFhand_Ca_insen; Ca2+ insensitive EF hand