Gene

dennd5a

ID
ZDB-GENE-071211-1
Name
DENN/MADD domain containing 5A
Symbol
dennd5a Nomenclature History
Previous Names
  • rab6ip1
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 49. Orthologous to human DENND5A (DENN domain containing 5A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Yang et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dennd5a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 49 Alliance Developmental and epileptic encephalopathy 49 617281
Associated With dennd5a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001024 PLAT/LH2 domain
Domain IPR001194 cDENN domain
Domain IPR004012 RUN domain
Domain IPR005112 dDENN domain
Domain IPR005113 uDENN domain
Domain IPR037516 Tripartite DENN domain
Domain IPR047277 DENN domain-containing protein 5A/B, PLAT/LH2 domain
Domain IPR047294 DENN domain-containing protein 5A, first RUN domain
Family IPR047278 DENN domain-containing protein 5A/B
Homologous_superfamily IPR036392 PLAT/LH2 domain superfamily
Homologous_superfamily IPR037213 RUN domain superfamily
Homologous_superfamily IPR043153 DENN domain, C-terminal lobe
Domain Details Per Protein
Protein Length cDENN domain dDENN domain DENN domain-containing protein 5A/B DENN domain-containing protein 5A/B, PLAT/LH2 domain DENN domain-containing protein 5A, first RUN domain DENN domain, C-terminal lobe PLAT/LH2 domain PLAT/LH2 domain superfamily RUN domain RUN domain superfamily Tripartite DENN domain uDENN domain
UniProtKB:A0A8M3AUQ3 1299
UniProtKB:E7F1J4 1288
UniProtKB:A0A2R8QFR0 1264
UniProtKB:A0A8M3B1L1 1323
Transcripts
Genome Browsers
No data available
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