exc-5 DH domain-containing protein [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: exc-5
Official Full Name: DH domain-containing protein
Primary source: WormBase:WBGene00001366
Locus tag: CELE_C33D9.1
See related: AllianceGenome:WB:WBGene00001366
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Involved in cell morphogenesis; epithelial cell development; and regulation of tube size. Located in several cellular components, including actin cytoskeleton; apical cortex; and cell body. Is expressed in excretory cell; hermaphrodite gonad; neurons; pharyngeal muscle cell; and rectal epithelium. Used to study Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4H; and X-linked Aarskog syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H; X-linked Aarskog syndrome; and non-syndromic X-linked intellectual disability. Orthologous to several human genes including FGD1 (FYVE, RhoGEF and PH domain containing 1); FGD2 (FYVE, RhoGEF and PH domain containing 2); and FGD3 (FYVE, RhoGEF and PH domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See exc-5 in Genome Data Viewer

Location:: chromosome: IV

Exon count:: 16

Sequence:: Chromosome: IV; NC_003282.8 (8799081..8813670, complement)

Chromosome IV - NC_003282.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003282.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

when exc-5 is overexpressed, recycling endosomes are enriched. Since FGD proteins activate small GTPases CDC42 and Rac, these results support the hypothesis that EXC-5 acts through small GTPases to move material from apical early to recycling endosomes
Title: The FGD homologue EXC-5 regulates apical trafficking in C. elegans tubules.

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General gene information

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Markers

C33D9.1 (e-PCR)
- UniSTS:321257

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of tube size	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in apical cortex	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DH domain-containing protein

NP_001023039.1

Confirmed by transcript evidence

NP_001294028.1

Confirmed by transcript evidence

NP_001294029.1

Confirmed by transcript evidence

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_003282.8 Reference assembly

Range

8799081..8813670 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001307100.4 → NP_001294029.1 DH domain-containing protein [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_001294029.1

Status: REVIEWED

UniProtKB/TrEMBL

G5ED03, X5LV34

Conserved Domains (4) summary

smart00064
Location:676 → 727

FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1

smart00325
Location:336 → 514

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13388
Location:545 → 643

PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain

cl17171
Location:773 → 845

PH-like; Pleckstrin homology-like domain
NM_001027868.5 → NP_001023039.1 DH domain-containing protein [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_001023039.1

Status: REVIEWED

UniProtKB/TrEMBL

G5ECM5, G5ED03

Conserved Domains (5) summary

smart00064
Location:641 → 692

FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1

cd13388
Location:510 → 608

PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain

pfam00169
Location:510 → 612

PH; PH domain

pfam00621
Location:301 → 479

RhoGEF; RhoGEF domain

cl17171
Location:738 → 810

PH-like; Pleckstrin homology-like domain
NM_001307099.3 → NP_001294028.1 DH domain-containing protein [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_001294028.1

Status: REVIEWED

UniProtKB/TrEMBL

G5ED03, X5M8S5

Conserved Domains (4) summary

smart00064
Location:574 → 625

FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1

smart00325
Location:234 → 412

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13388
Location:443 → 541

PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain

cl17171
Location:671 → 743

PH-like; Pleckstrin homology-like domain