Basic Information

Symbol
REEP1
RNA class
mRNA
Alias
Receptor Accessory Protein 1 SPG31 C2orf23 Yip2a Receptor Expression-Enhancing Protein 1 Spastic Paraplegia 31 Protein FLJ13110 Receptor Expression Enhancing Protein 1 Chromosome 2 Open Reading Frame 23 HMND12 DSMA6 HMN5B HMNR6
Location (GRCh38)
2:86213993-86338083
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001371279.1
Sequence length
4017.0 nt
GC content
0.4302

Transcripts

ID Sequence Length GC content
NM_001164730.2 NCBI
GUUUCUUAUGCAGAAAGUGCUGAGCAACGGACAGACUGAAGAGGUUAGG… 3741 nt 0.4133
NM_001164731.2 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3756 nt 0.4260
NM_001164732.2 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3594 nt 0.4210
NM_001371279.1 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 4017 nt 0.4302
NM_001371280.1 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3651 nt 0.4133
NM_001410855.1 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3981 nt 0.4288
NM_001410856.1 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3865 nt 0.4266
NM_022912.3 NCBI
AGUCUGGCGGCGGCUGCCGUGAGCUGACUGACGUUCCGGGAACGCCGCA… 3829 nt 0.4252
Summary

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Forensic Context

No relevant information is available at the moment.