beta-Spec beta Spectrin [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: beta-Specprovided by FlyBase
Official Full Name: beta Spectrinprovided by FlyBase
Primary source: FLYBASE:FBgn0250788
Locus tag: Dmel_CG5870
See related: AllianceGenome:FB:FBgn0250788
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: anon-EST:fe1B3; b spectrin; b-Spec; B-spec; beta; beta-spec; beta-spectrin; betaHeavy-Spec; betaspec; betaSpec; CG5870; Dmel\CG5870; i168; i6; kus; l(1)G0074; l(1)G0108; l(1)G0198; Spec; Spec-beta; SPEC8; Specbeta; Spectrin
Summary: Enables ankyrin binding activity; microtubule binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including axon guidance; long-term strengthening of neuromuscular junction; and maintenance of presynaptic active zone structure. Located in several cellular components, including fusome; lateral plasma membrane; and spectrosome. Is expressed in several structures, including adult head; adult heart; epithelium; gut section; and larval muscle cell. Used to study spinocerebellar ataxia type 5. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14; hereditary spherocytosis; hereditary spherocytosis type 2; and spinocerebellar ataxia type 5. Orthologous to several human genes including SPTBN1 (spectrin beta, non-erythrocytic 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 16B10-16B12; 1-57 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (17657372..17669371)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (17551405..17563404)

Chromosome X - NC_004354.4 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

alpha-Synuclein Promotes Neuronal Dysfunction and Death by Disrupting the Binding of Ankyrin to beta-Spectrin.
Title: α-Synuclein Promotes Neuronal Dysfunction and Death by Disrupting the Binding of Ankyrin to β-Spectrin.
Results define a conserved role of spectrin-based mechanical support for cilium biogenesis.
Title: Spectrin-based membrane skeleton supports ciliogenesis.
The abnormal stress fiber-like actin structure on the basal side of follicle cells provides a likely link between the b-spectrin mutations and the loss of the Hippo signaling activity phenotype.
Title: β-Spectrin regulates the hippo signaling pathway and modulates the basal actin network.
Model in which alphabeta-spectrin directly couples lipid uptake at the plasma membrane to lipid droplet growth in the cytoplasm. In contrast, strong overexpression of beta-spectrin caused fat body atrophy and larval lethality.
Title: Genetic studies of spectrin in the larval fat body of Drosophila melanogaster: evidence for a novel lipid uptake apparatus.
Data show that DAnk2-binding is critical for beta spectrin function in vivo.
Title: Transgene rescue identifies an essential function for Drosophila beta spectrin in the nervous system and a selective requirement for ankyrin-2-binding activity.
beta-Spectrin is required in neurons for proper midline axon guidance in the embryonic CNS.
Title: beta-Spectrin functions independently of Ankyrin to regulate the establishment and maintenance of axon connections in the Drosophila embryonic CNS.
Spectrin may be an active partner in the stabilization of polarized membrane domains
Title: The C-terminal domain of Drosophila (beta) heavy-spectrin exhibits autonomous membrane association and modulates membrane area.
At the Drosophila neuromuscular junction postsynaptic Spectrin-actin lattice acts as an organizing scaffold upon which pre- and postsynaptic development are arranged.
Title: A postsynaptic spectrin scaffold defines active zone size, spacing, and efficacy at the Drosophila neuromuscular junction.
Presynaptic spectrin functions as an essential presynaptic scaffold that may link synaptic cell adhesion with the stabilization of the underlying microtubule cytoskeleton.
Title: Presynaptic spectrin is essential for synapse stabilization.
Brush border spectrin is required for early endosome recycling.
Title: Brush border spectrin is required for early endosome recycling in Drosophila.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables ankyrin binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of cytoskeleton	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
involved_in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon midline choice point recognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-term strengthening of neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of presynaptic active zone structure	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
involved_in photoreceptor cell axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
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 fusome	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of spectrin	IEA Inferred from Electronic Annotation more info
located_in spectrosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta spectrin

Names: CG5870-PA; CG5870-PB; CG5870-PC; anon-fast-evolving-1B3; beta-III-Spectrin; beta-Spec-PA; beta-Spec-PB; beta-Spec-PC; beta-spectrin; karussell; spectrin

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_004354.4 Reference assembly

Range

17657372..17669371

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272732.1 → NP_001259661.1 beta spectrin, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259661.1

Status: REVIEWED

UniProtKB/TrEMBL

M9PHG4

Conserved Domains (4) summary

smart00150
Location:422 → 521

SPEC; Spectrin repeats

cd00176
Location:639 → 846

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; ...

pfam00307
Location:170 → 269

CH; Calponin homology (CH) domain

pfam00435
Location:2018 → 2078

Spectrin; Spectrin repeat
NM_078664.3 → NP_523388.1 beta spectrin, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_523388.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q00963, Q6NNX2, Q9VX30

Related

FBpp0074228

Conserved Domains (6) summary

smart00150
Location:422 → 521

SPEC; Spectrin repeats

cd00176
Location:639 → 846

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; ...

cd10571
Location:2150 → 2257

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:2150 → 2258

PH; PH domain

pfam00307
Location:170 → 269

CH; Calponin homology (CH) domain

pfam00435
Location:2018 → 2078

Spectrin; Spectrin repeat
NM_001272731.1 → NP_001259660.1 beta spectrin, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259660.1

Status: REVIEWED

UniProtKB/TrEMBL

M9PF16

Conserved Domains (6) summary

smart00150
Location:422 → 521

SPEC; Spectrin repeats

cd00176
Location:639 → 846

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; ...

cd10571
Location:2167 → 2274

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:2167 → 2275

PH; PH domain

pfam00307
Location:170 → 269

CH; Calponin homology (CH) domain

pfam00435
Location:2018 → 2078

Spectrin; Spectrin repeat