Gene

fgd1

ID

ZDB-GENE-081104-33

Name

FYVE, RhoGEF and PH domain containing 1

Symbol

fgd1 Nomenclature History

Previous Names

si:dkey-242k1.1 (1)

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to have guanyl-nucleotide exchange factor activity and metal ion binding activity. Human ortholog(s) of this gene implicated in Aarskog syndrome and non-syndromic X-linked intellectual disability. Orthologous to human FGD1 (FYVE, RhoGEF and PH domain containing 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With fgd1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
X-linked Aarskog syndrome	Alliance	Aarskog-Scott syndrome	305400
X-linked Aarskog syndrome	Alliance	Intellectual developmental disorder, X-linked syndromic 16	305400

Associated With fgd1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000219	Dbl homology (DH) domain
Domain	IPR000306	FYVE zinc finger
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR017455	Zinc finger, FYVE-related
Domain	IPR035939	FGD1, N-terminal PH domain
Domain	IPR035941	FGD1-4, C-terminal PH domain
Homologous_superfamily	IPR011011	Zinc finger, FYVE/PHD-type
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR013083	Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily	IPR035899	Dbl homology (DH) domain superfamily

Domain Details Per Protein

Protein	Length	Dbl homology (DH) domain	Dbl homology (DH) domain superfamily	FGD1-4, C-terminal PH domain	FGD1, N-terminal PH domain	FYVE zinc finger	PH-like domain superfamily	Pleckstrin homology domain	Zinc finger, FYVE/PHD-type	Zinc finger, FYVE-related	Zinc finger, RING/FYVE/PHD-type
UniProtKB:A0A8M6Z859 InterPro	947
UniProtKB:A0A8M6Z282 InterPro	965
UniProtKB:A0A8N7T6X2 InterPro	995
UniProtKB:A0A8M6Z0K6 InterPro	977

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
antisense	ottdart00000059734 (1) Ensembl	Havana	934 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	fgd1-201 (1) Ensembl	Havana	2340 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations