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REEP1 receptor accessory protein 1 [ Homo sapiens (human) ]

Gene ID: 65055, updated on 8-Dec-2018

Summary

Official Symbol
REEP1provided by HGNC
Official Full Name
receptor accessory protein 1provided by HGNC
Primary source
HGNC:HGNC:25786
See related
Ensembl:ENSG00000068615 MIM:609139
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMN5B; SPG31; Yip2a; C2orf23
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]
Expression
Biased expression in testis (RPKM 30.1), brain (RPKM 18.8) and 11 other tissues See more
Orthologs

Genomic context

See REEP1 in Genome Data Viewer
Location:
2p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (86213993..86338083, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86441116..86565206, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene inner membrane mitochondrial protein Neighboring gene microRNA 4779 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene lysine demethylase 3A Neighboring gene RNF103-CHMP3 readthrough Neighboring gene RNA, U6 small nuclear 640, pseudogene Neighboring gene charged multivesicular body protein 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Olfactory Signaling Pathway, organism-specific biosystem (from REACTOME)
    Olfactory Signaling Pathway, organism-specific biosystemMammalian Olfactory Receptor (OR) genes were discoved in rats by Linda Buck and Richard Axel, who predicted that odorants would be detected by a large family of G protein-coupled receptors (GPCRs) th...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
olfactory receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein insertion into membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of intracellular transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum tubular network ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
receptor expression-enhancing protein 1
Names
spastic paraplegia 31 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013037.1 RefSeqGene

    Range
    5001..129091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_713

mRNA and Protein(s)

  1. NM_001164730.1NP_001158202.1  receptor expression-enhancing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001158202.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK023172, AK297287, AL080222, BI493883
    Consensus CDS
    CCDS54374.1
    UniProtKB/Swiss-Prot
    Q9H902
    UniProtKB/TrEMBL
    E7EUF7
    Related
    ENSP00000392197.2, ENST00000453231.6
    Conserved Domains (1) summary
    pfam03134
    Location:19101
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. NM_001164731.1NP_001158203.1  receptor expression-enhancing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001158203.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK023172, AK299334, AL080222, BI493883, DA495719
    Consensus CDS
    CCDS54372.1
    UniProtKB/Swiss-Prot
    Q9H902
    Related
    ENSP00000437567.1, ENST00000535845.6
    Conserved Domains (1) summary
    pfam03134
    Location:967
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  3. NM_001164732.1NP_001158204.1  receptor expression-enhancing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001158204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and lacks two alternate exons in the central coding region that causes a frameshift, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AK023172, AK297201, AL080222, BI493883
    Consensus CDS
    CCDS54373.1
    UniProtKB/Swiss-Prot
    Q9H902
    Related
    ENSP00000442681.1, ENST00000541910.6
    Conserved Domains (1) summary
    pfam03134
    Location:1961
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  4. NM_022912.2NP_075063.1  receptor expression-enhancing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_075063.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB073662, AK023172, BC064846, DB078037
    Consensus CDS
    CCDS1989.1
    UniProtKB/Swiss-Prot
    Q9H902
    Related
    ENSP00000165698.5, ENST00000165698.9
    Conserved Domains (1) summary
    pfam03134
    Location:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    86213993..86338083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264502.2XP_005264559.1  receptor expression-enhancing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1C7CYY3
    Related
    ENSP00000438346.2, ENST00000538924.6
    Conserved Domains (1) summary
    pfam03134
    Location:794
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. XM_017004727.1XP_016860216.1  receptor expression-enhancing protein 1 isoform X7

  3. XM_017004725.1XP_016860214.1  receptor expression-enhancing protein 1 isoform X2

    Related
    ENSP00000495610.1, ENST00000643817.1
  4. XM_011533045.2XP_011531347.1  receptor expression-enhancing protein 1 isoform X4

    Related
    ENSP00000494305.1, ENST00000644644.1
    Conserved Domains (1) summary
    pfam03134
    Location:486
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  5. XM_005264504.1XP_005264561.1  receptor expression-enhancing protein 1 isoform X5

    Conserved Domains (1) summary
    pfam03134
    Location:156
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  6. XM_011533044.1XP_011531346.1  receptor expression-enhancing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam03134
    Location:288
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  7. XM_017004726.1XP_016860215.1  receptor expression-enhancing protein 1 isoform X6

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