REEP1 (receptor accessory protein 1)

2014-11-01  

Identity

HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
C2orf23,HMN5B,SPG31,Yip2a
FUSION GENES

Other Information

Locus ID:

NCBI: 65055
MIM: 609139
HGNC: 25786
Ensembl: ENSG00000068615

Variants:

dbSNP: 65055
ClinVar: 65055
TCGA: ENSG00000068615
COSMIC: REEP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068615ENST00000165698Q9H902
ENSG00000068615ENST00000453231Q9H902
ENSG00000068615ENST00000489855U3KPV7
ENSG00000068615ENST00000535845Q9H902
ENSG00000068615ENST00000538924A0A1C7CYY3
ENSG00000068615ENST00000541910Q9H902
ENSG00000068615ENST00000642243A0A2R8Y5P1
ENSG00000068615ENST00000643817A0A2R8Y6K6
ENSG00000068615ENST00000644644A0A2R8YD64

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
Olfactory Signaling PathwayREACTOMER-HSA-381753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202004472010Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.143
168265272006Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183219252008REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.60
167205762006Members of RTP and REEP gene families influence functional bitter taste receptor expression.41
216186482011REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.29
262016912015Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.29
240513752013A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.28
227038822012Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.26
190345392009New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).16

Citation

Dessen P

REEP1 (receptor accessory protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72568/reep1