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 enable microtubule binding activity. Acts upstream of or within several processes, including regulation of motor neuron axon guidance; swimming behavior; and thigmotaxis. Predicted to be located in membrane. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. Is expressed in central nervous system; muscle; post-vent region; and trunk. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 12; autosomal recessive distal hereditary motor neuronopathy 6; 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

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: 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
autosomal dominant distal hereditary motor neuronopathy 12	Alliance	?Neuronopathy, distal hereditary motor, autosomal dominant 12	614751
autosomal recessive distal hereditary motor neuronopathy 6	Alliance	Neuronopathy, distal hereditary motor, autosomal recessive 6	620011
hereditary spastic paraplegia 31	Alliance	Spastic paraplegia 31, autosomal dominant	610250

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

Domain Details Per Protein

Protein	Length	TB2/DP1/HVA22
UniProtKB:F8W555 InterPro	199
UniProtKB:A0A8M9P9M3 InterPro	308

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	reep1-201 (1) Ensembl	Ensembl		927 nt	Select Tool ZFIN BLAST
mRNA	reep1-202 (1) Ensembl	Ensembl		1,427 nt	Select Tool ZFIN BLAST

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