def6a DEF6 guanine nucleotide exchange factor a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: def6aprovided by ZNC
Official Full Name: DEF6 guanine nucleotide exchange factor aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1246
See related: Ensembl:ENSDARG00000012247 AllianceGenome:ZFIN:ZDB-GENE-040426-1246
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: Def6; zgc:63721
Summary: Acts upstream of or within cell migration involved in gastrulation and convergent extension involved in gastrulation. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including female organism; fin; lateral line; post-vent region; and somite border. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 8

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (14185295..14209851, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (14147590..14173083, complement)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Swap70b and Def6a delineate Wnt11 and Wnt5b signalling pathways and have roles in convergent and extension cell movement during zebrafish gastrulation
Title: Swap70b is required for convergent and extension cell movement during zebrafish gastrulation linking Wnt11 signalling and RhoA effector function.
def6 morphants phenocopy Wnt5b mutants and ectopic overexpression of def6 essentially rescues Wnt5b morphants, indicating a novel role for def6 as a central GEF downstream of Wnt5b signaling
Title: Def6 is required for convergent extension movements during zebrafish gastrulation downstream of Wnt5b signaling.

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General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell migration involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within convergent extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: differentially expressed in FDCP 6 homolog

Names: differentially expressed in FDCP 6a homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_201040.1 → NP_957334.1 differentially expressed in FDCP 6 homolog

See identical proteins and their annotated locations for NP_957334.1

Status: PROVISIONAL

Source sequence(s)

BC054935

UniProtKB/Swiss-Prot

Q6TNU8, Q7SYB5

Related

ENSDARP00000025016.6, ENSDART00000005359.8

Conserved Domains (6) summary

TIGR02559
Location:336 → 472

HrpB7; type III secretion protein HrpB7

cd13273
Location:205 → 314

PH_SWAP-70; Switch-associated protein-70 Pleckstrin homology (PH) domain

pfam00169
Location:212 → 307

PH; PH domain

cd16269
Location:387 → 398

GBP_C; coiled coil [structural motif]

cl09930
Location:335 → 530

RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

cl20817
Location:310 → 413

GBP_C; Guanylate-binding protein, C-terminal domain