caz cabeza [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: cazprovided by FlyBase
Official Full Name: cabezaprovided by FlyBase
Primary source: FLYBASE:FBgn0285954
Locus tag: Dmel_CG3606
See related: AllianceGenome:FB:FBgn0285954
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-Pen19; BcDNA:GM09207; Cabeza; cas; Caz; CG3606; dFUS; Dmel\CG3606; EWSR1; l(1)5g11; p19; P19; pen19; Pen19; Sarfh; SARFH; TFIID
Summary: Enables chromatin binding activity. Involved in several processes, including adult locomotory behavior; positive regulation of synaptic assembly at neuromuscular junction; and synaptic assembly at neuromuscular junction. Located in nucleoplasm. Part of catalytic step 2 spliceosome. Colocalizes with transcriptionally active chromatin. Is expressed in several structures, including adult head; central nervous system; embryonic/larval muscle system; and embryonic/larval neurons. Used to study amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 6; and frontotemporal dementia. Human ortholog(s) of this gene implicated in connective tissue cancer (multiple); essential tremor 4; and neurodegenerative disease (multiple). Orthologous to several human genes including EWSR1 (EWS RNA binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 14B8-14B9; 1-53 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (16288810..16293520)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (16182843..16187553)

Chromosome X - NC_004354.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1.
Title: SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1.
Loss of caz function leads to increased levels of Xrp1 and results in muscle developmental defects.
Title: The Drosophila FUS ortholog cabeza promotes adult founder myoblast selection by Xrp1-dependent regulation of FGF signaling.
Xrp1 knockdown substantially rescued the motor deficits and life span of flies expressing ALS mutant FUS in motor neurons, implicating gene expression dysregulation in ALS-FUS pathogenesis.
Title: Xrp1 genetically interacts with the ALS-associated FUS orthologue caz and mediates its toxicity.
Hpo, Drosophila MST, is a novel modifier of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS.
Title: Hippo, Drosophila MST, is a novel modifier of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS.
Results that the molecular mechanisms controlling the nuclear import of FUS/Caz and FUS autoregulation are conserved between humans and Drosophila
Title: Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila.
Data demonstrate that FUS/Caz regulates neuromuscular junction development and plays an evolutionarily conserved role in modulating the strength of synaptic transmission in motor neurons.
Title: The ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.
The loss of caz in Drosophila led to severe growth defects in the eyes and ventral nerve cords, caused locomotive disability and neuromuscular junction disruption, but did not induce apoptotic cell death.
Title: Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS.

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Pathways from PubChem

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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 RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in compound eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in larval locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in positive regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	HDA more info	PubMed
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: cabeza

Names: CG3606-PB; CG3606-PC; CG3606-PD; CG3606-PE; Sarcoma-associated RNA-binding fly homolog; caz-PB; caz-PC; caz-PD; caz-PE; lethal (1) 5g11

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

16288810..16293520

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_078641.4 → NP_523365.2 cabeza, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_523365.2

Status: REVIEWED

UniProtKB/Swiss-Prot

Q24445, Q27294, Q8T3M2, Q9VXI4

Related

FBpp0073996

Conserved Domains (4) summary

COG0724
Location:118 → 205

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12534
Location:122 → 204

RRM_SARFH; RNA recognition motif in Drosophila melanogaster RNA-binding protein cabeza and similar proteins

sd00025
Location:279 → 298

zf-RanBP2; RanBP2-type Zn finger [structural motif]

pfam00641
Location:275 → 304

zf-RanBP; Zn-finger in Ran binding protein and others
NM_001272673.1 → NP_001259602.1 cabeza, isoform E [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259602.1

Status: REVIEWED

UniProtKB/TrEMBL

M9PHV6
NM_167493.2 → NP_727946.2 cabeza, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_727946.2

Status: REVIEWED

Conserved Domains (4) summary

COG0724
Location:103 → 190

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12534
Location:107 → 189

RRM_SARFH; RNA recognition motif in Drosophila melanogaster RNA-binding protein cabeza and similar proteins

sd00025
Location:264 → 283

zf-RanBP2; RanBP2-type Zn finger [structural motif]

pfam00641
Location:260 → 289

zf-RanBP; Zn-finger in Ran binding protein and others
NM_001272672.1 → NP_001259601.1 cabeza, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259601.1

Status: REVIEWED

UniProtKB/TrEMBL

M9PH94

Conserved Domains (4) summary

COG0724
Location:74 → 161

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12534
Location:78 → 160

RRM_SARFH; RNA recognition motif in Drosophila melanogaster RNA-binding protein cabeza and similar proteins

sd00025
Location:235 → 254

zf-RanBP2; RanBP2-type Zn finger [structural motif]

pfam00641
Location:231 → 260

zf-RanBP; Zn-finger in Ran binding protein and others