rfx5

ID

ZDB-GENE-070717-3

Name

regulatory factor X, 5

Symbol

rfx5 Nomenclature History

Previous Names

si:ch211-210h11.13

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable K48-linked deubiquitinase activity and cysteine-type carboxypeptidase activity. Predicted to act upstream of or within regulation of DNA-templated transcription. Human ortholog(s) of this gene implicated in severe combined immunodeficiency. Orthologous to several human genes including MINDY1 (MINDY lysine 48 deubiquitinase 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

Daniocell

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 rfx5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		MHC class II deficiency 3	620816
		?MHC class II deficiency 5	620818

Associated With rfx5 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003150	DNA-binding RFX-type winged-helix domain
Family	IPR039779	RFX-like DNA-binding protein
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily
Homologous_superfamily	IPR036390	Winged helix DNA-binding domain superfamily