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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

HCOP human homology predictions: REEP1
Gene Tree: Reep1

Human
homologs
REEP1, receptor accessory protein 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 65055
neXtProt AC: NX_Q9H902

Human Synonyms: C2orf23, HMN5B, SPG31

Human Chr (Location): 2p11.2; chr2:86213993-86338418 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human REEP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(5) Spontaneous(1) Targeted(1)
Genomic Mutations involving Reep1 (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 339 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
Data Summary: Results (154)    Tissues (16)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 154
cDNA source data(92)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase reep1    NEW 
Molecular
reagents
All nucleic(93) cDNA(92) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000029707 (Evidence)
Ensembl Gene Model ENSMUSG00000052852 (Evidence)
Entrez Gene 52250 (Evidence)
UniGene 146332
DFCI TC1607944, TC1578608, TC1620894
DoTS DT.94337626
NIA Mouse Gene Index U007023
Consensus CDS Project CCDS51807.1
International Mouse Phenotyping Consortium Status Reep1
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(31)
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
06/23/2015
MGI 5.22
The Jackson Laboratory