Gene

reep1

ID
ZDB-GENE-110411-267
Name
receptor accessory protein 1
Symbol
reep1 Nomenclature History
Previous Names
  • si:dkey-21a6.4
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in distal hereditary motor neuronopathy type 5B and hereditary spastic paraplegia 31. Orthologous to human REEP1 (receptor accessory protein 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Naef et al., 2023
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With reep1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Neuronopathy, distal hereditary motor, autosomal recessive 6 620011
Spastic paraplegia 31, autosomal dominant 610250
?Neuronopathy, distal hereditary motor, autosomal dominant 12 614751
Associated With reep1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR004345 TB2/DP1/HVA22-related protein
Domain Details Per Protein
Protein Length TB2/DP1/HVA22-related protein
UniProtKB:F8W555 199
UniProtKB:A0A8M9P9M3 308
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA reep1-201 (1) Ensembl 927 nt
mRNA reep1-202 (1) Havana 1427 nt
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