sax saxophone [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: saxprovided by FlyBase
Official Full Name: saxophoneprovided by FlyBase
Primary source: FLYBASE:FBgn0003317
Locus tag: Dmel_CG1891
See related: AllianceGenome:FB:FBgn0003317
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: Bkr43E; Brk43E; CG1891; Dmel\CG1891; Sa; Sax; SAX; STK-B
Summary: Enables BMP binding activity; BMP receptor activity; and I-SMAD binding activity. Involved in several processes, including BMP signaling pathway; germ cell development; and regionalization. Located in plasma membrane. Part of BMP receptor complex. Is expressed in several structures, including adult brain; adult pars intercerebralis; dorsal pharyngeal muscle cell; embryonic/larval midgut primordium; and gut section. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in fibrodysplasia ossificans progressiva; glaucoma (multiple); hereditary hemorrhagic telangiectasia; and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1) and ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 43E18-43E18; 2-57 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2R	NT_033778.4 (7806484..7810067)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (3693989..3697572)

Chromosome 2R - NT_033778.4 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?

Heterodimers of SAX and TKV play an important role in extending the BMP activity gradient by facilitating DPP diffusion and assisting GBB signaling through functional complexes with type II receptors.
Title: The interaction between two TGF-beta type I receptors plays important roles in ligand binding, SMAD activation, and gradient formation.
Data show different functional requirements for the Sax receptor, and provide a mechanistic framework for future investigations into disease states that arise from defects in BMP/TGF-beta signaling.
Title: Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.
Dad inhibited Saxophone and Thickveins but not Baboon.
Title: Specificity of the inhibitory effects of Dad on TGF-beta family type I receptors, Thickveins, Saxophone, and Baboon in Drosophila.
Smox acts downstream of Sax to prevent spermatogonial over-proliferation in Drosophila.
Title: TGFbeta receptor saxophone non-autonomously regulates germline proliferation in a Smox/dSmad2-dependent manner in Drosophila testis.
TGF-beta type I receptor saxophone is essential for the normal structural and functional development of the Drosophila neuromuscular junction, a synapse that displays activity-dependent plasticity.
Title: Drosophila neuromuscular synapse assembly and function require the TGF-beta type I receptor saxophone and the transcription factor Mad.
ALK1 and ALK2 facilitate Bmp signaling, but when alone, ALK1 and ALK2 fail to signal effectively and sequester Gbb
Title: Dual function of the Drosophila Alk1/Alk2 ortholog Saxophone shapes the Bmp activity gradient in the wing imaginal disc.

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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 ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables I-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterior/posterior pattern specification, imaginal disc	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	HMP more info	PubMed
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in follicle cell of egg chamber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in germ-line stem cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in germ-line stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in imaginal disc-derived wing morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maternal determination of anterior/posterior axis, embryo	HMP more info	PubMed
involved_in negative regulation of innate immune response	HMP more info	PubMed
involved_in positive regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in wing disc pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BMP receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BMP receptor complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of receptor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: saxophone

Names: CG1891-PA; CG1891-PB; CG1891-PC; sax-PA; sax-PB; sax-PC

NP_001246193.1

EC 2.7.11.1

EC 2.7.11.30

NP_523652.2

EC 2.7.11.1

EC 2.7.11.30

NP_724606.1

EC 2.7.11.1

EC 2.7.11.30

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

NT_033778.4 Reference assembly

Range

7806484..7810067

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001259264.2 → NP_001246193.1 saxophone, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001246193.1

Status: REVIEWED

UniProtKB/TrEMBL

A0A0B4K7J3, D5SHT1

Conserved Domains (5) summary

smart00219
Location:276 → 553

TyrKc; Tyrosine kinase, catalytic domain

cd12087
Location:182 → 218

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

cd14142
Location:270 → 567

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:77 → 168

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:247 → 274

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_078928.4 → NP_523652.2 saxophone, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_523652.2

Status: REVIEWED

UniProtKB/TrEMBL

Q7JPM7, Q7JQ36, Q7JQ39

Related

FBpp0087908

Conserved Domains (5) summary

smart00219
Location:264 → 541

TyrKc; Tyrosine kinase, catalytic domain

cd12087
Location:170 → 206

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

cd14142
Location:258 → 555

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:65 → 156

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:235 → 262

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_165559.2 → NP_724606.1 saxophone, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_724606.1

Status: REVIEWED

UniProtKB/TrEMBL

Q7JPM7, Q7JQ39, Q95U21

Related

FBpp0087909

Conserved Domains (5) summary

smart00219
Location:229 → 506

TyrKc; Tyrosine kinase, catalytic domain

cd12087
Location:135 → 171

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

cd14142
Location:223 → 520

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:30 → 121

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:200 → 227

TGF_beta_GS; Transforming growth factor beta type I GS-motif