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Reep1
Gene Detail
 Symbol
Name
ID
Reep1
receptor accessory protein 1
MGI:1098827
Synonyms D6Ertd253e
Feature Type protein coding gene
Genetic Map
Chromosome 6
32.20 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:71707561-71810710 bp, + strand
From VEGA annotation of GRCm38

  103150 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41504  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Reep1

Human
homologs
Human Homolog REEP1, receptor accessory protein 1
NCBI Gene ID 65055
neXtProt AC  NX_Q9H902
Human Synonyms  C2orf23, HMN5B, SPG31
Human Chr (Location)  2p11.2; chr2:86213993-86338083 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human REEP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(5) Targeted(1)
Incidental mutations (data from APF )
 
Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons.
 
Interactions
Reep1 interacts with 340 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process endoplasmic reticulum tubular network organization, protein insertion into membrane, ...
Component cytoplasm, endoplasmic reticulum, ...
Function microtubule binding, olfactory receptor binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (154)    Tissues (16)    Images (24)
Theiler Stages: 23
Assay TypeResults
RNA in situ 154
cDNA source data(92)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(93) cDNA(92) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000029707 (Evidence)
Ensembl Gene ModelENSMUSG00000052852 (Evidence)
Entrez Gene52250 (Evidence)
UniGene146332
DFCITC1578608, TC1607944, TC1620894
DoTSDT.94337626
NIA Mouse Gene IndexU007023
Consensus CDS ProjectCCDS51807.1
International Mouse Knockout Project StatusReep1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029707 VEGA Gene Model | MGI Sequence Detail 103150 C57BL/6J ±  kb
transcript OTTMUST00000073709 VEGA | MGI Sequence Detail 3924 Not Applicable 
polypeptide OTTMUSP00000038199 VEGA | MGI Sequence Detail 201 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(848 from dbSNP Build 137)    SNPs within 2kb including multiple locations(852)
Protein-related
information
ResourceIDDescription
InterPro IPR004345 TB2/DP1/HVA22-related protein
Protein Ontology PR:000013863 receptor expression-enhancing protein 1
References (Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:212061 Bjork S, et al., REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. PLoS One. 2013;8(10):e76366
All references(32)
Other
accession IDs
MGI:2141713, MGI:2141789

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory