Rph Rabphilin [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Rphprovided by FlyBase
Official Full Name: Rabphilinprovided by FlyBase
Primary source: FLYBASE:FBgn0030230
Locus tag: Dmel_CG11556
See related: AllianceGenome:FB:FBgn0030230
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: CG11556; Dmel\CG11556; rph; Rph3A
Summary: Enables small GTPase binding activity. Predicted to be involved in calcium-dependent activation of synaptic vesicle fusion; intracellular protein transport; and positive regulation of calcium ion-dependent exocytosis. Predicted to be located in secretory granule and synaptic vesicle membrane. Predicted to be active in synapse. Used to study cardiomyopathy and chromosome 16p11.2 deletion syndrome, 593-kb. Orthologous to several human genes including RPH3A (rabphilin 3A). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 9E2-9E4; 1-32 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (10749077..10757666, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (10643110..10651699, complement)

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?

Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes.
Title: Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes.

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General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables calcium-dependent phospholipid binding	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-dependent activation of synaptic vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISM Inferred from Sequence Model more info
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: rabphilin

Names: CG11556-PA; CG11556-PB; CG11556-PC; CG11556-PD; Rph-PA; Rph-PB; Rph-PC; Rph-PD; dm-rabphilin; rabphilin-3A

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

10749077..10757666 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_132423.2 → NP_572651.1 rabphilin, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_572651.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9W2R9

Related

FBpp0071431

Conserved Domains (3) summary

cd04035
Location:354 → 477

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:499 → 631

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

cl22851
Location:84 → 172

PHD_SF; PHD finger superfamily
NM_001272500.1 → NP_001259429.1 rabphilin, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259429.1

Status: REVIEWED

UniProtKB/TrEMBL

Q6AWM2

Conserved Domains (2) summary

cd04035
Location:117 → 240

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:262 → 394

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
NM_001169244.1 → NP_001162715.1 rabphilin, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001162715.1

Status: REVIEWED

UniProtKB/TrEMBL

Q6AWM2

Conserved Domains (2) summary

cd04035
Location:117 → 240

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:262 → 394

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
NM_001272499.2 → NP_001259428.1 rabphilin, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259428.1

Status: REVIEWED

UniProtKB/TrEMBL

M9PJH7

Conserved Domains (2) summary

cl14603
Location:210 → 321

C2; C2 domain

cl22851
Location:1 → 28

PHD_SF; PHD finger superfamily