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

Gene ID: 65055, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:25786
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
DSMA6; HMN5B; HMNR6; SPG31; Yip2a; HMND12; 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
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Genomic context

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See REEP1 in Genome Data Viewer
Location:
2p11.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86213993..86338083, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86216087..86340099, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 16155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16158 Neighboring gene microRNA 4779 Neighboring gene Sharpr-MPRA regulatory region 10968 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:86457835-86458493 Neighboring gene Sharpr-MPRA regulatory region 10790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86487052-86487642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86551277-86551778 Neighboring gene U8 small nucleolar RNA Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:86667563-86668106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16161 Neighboring gene lysine demethylase 3A Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:86708929-86710128

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical and genetic study of a novel mutation in the REEP1 gene. Liu SG, et al. Synapse, 2009 Mar. PMID 19072839
  2. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Beetz C, et al. Am J Hum Genet, 2012 Jul 13. PMID 22703882, Free PMC Article
  3. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. Stevens SJ, et al. Eur J Hum Genet, 2015 Apr. PMID 24986827, Free PMC Article
  4. Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. Lim Y, et al. Ann Neurol, 2015 Nov. PMID 26201691, Free PMC Article
  5. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Goizet C, et al. Hum Mutat, 2011 Oct. PMID 21618648

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. deletional variation of the REEP1 gene probably underlies the disease in this pedigree
    Title: [Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31].
  2. The REEP1 c.606 + 43G>T caused Spastic Paraplegia and primary progressive multiple sclerosis.
    Title: Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
  3. REEP1 variants cause polyneuropathy in SPG31.
    Title: Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
  4. Pathology of spastic paraplegia type 31 may contain dosage effect of REEP1 transcripts.
    Title: Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
  5. Study identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic paraplegia (HSP).
    Title: A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.
  6. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
    Title: Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
  7. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
    Title: Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
  8. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
    Title: A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
  9. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
    Title: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
  10. Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
    Title: REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 31
MedGen: C1853247 OMIM: 610250 GeneReviews: Not available
Compare labs
Neuronopathy, distal hereditary motor, type 5B
MedGen: C3553656 OMIM: 614751 GeneReviews: Not available
Compare labs
Spinal muscular atrophy, distal, autosomal recessive, 6
MedGen: C5774201 OMIM: 620011 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables olfactory receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables olfactory receptor binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum tubular network organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein insertion into membrane IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum tubular network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum tubular network ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001164730.2 → NP_001158202.1  receptor expression-enhancing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001158202.1

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS54374.1
    UniProtKB/TrEMBL
    B7Z4H9
    Related
    ENSP00000392197.2, ENST00000453231.6
    Conserved Domains (1) summary
    pfam03134
    Location:19 → 101
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  2. NM_001164731.2 → NP_001158203.1  receptor expression-enhancing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001158203.1

    Status: REVIEWED

    Source sequence(s)
    AK023172, AK299334, AL080222, BI493883, DA495719
    Consensus CDS
    CCDS54372.1
    UniProtKB/TrEMBL
    B7Z4H9
    Related
    ENSP00000437567.1, ENST00000535845.6
    Conserved Domains (1) summary
    pfam03134
    Location:9 → 67
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  3. NM_001164732.2 → NP_001158204.1  receptor expression-enhancing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001158204.1

    Status: REVIEWED

    Source sequence(s)
    AK023172, AK297201, AL080222, BI493883
    Consensus CDS
    CCDS54373.1
    UniProtKB/TrEMBL
    B7Z241
    Related
    ENSP00000442681.1, ENST00000541910.6
    Conserved Domains (1) summary
    pfam03134
    Location:19 → 61
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  4. NM_001371279.1 → NP_001358208.1  receptor expression-enhancing protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92798.1
    UniProtKB/TrEMBL
    A0A1C7CYY3, A0A2R8YD64
    Related
    ENSP00000438346.3, ENST00000538924.7
    Conserved Domains (1) summary
    pfam03134
    Location:19 → 94
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  5. NM_001371280.1 → NP_001358209.1  receptor expression-enhancing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92795.1
    UniProtKB/TrEMBL
    A0A8I5KRE1
    Related
    ENSP00000509143.1, ENST00000689156.1
    Conserved Domains (1) summary
    pfam03134
    Location:19 → 94
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  6. NM_001410855.1 → NP_001397784.1  receptor expression-enhancing protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92796.1
    UniProtKB/TrEMBL
    A0A2R8Y6K6
    Related
    ENSP00000495610.2, ENST00000643817.2

  7. NM_001410856.1 → NP_001397785.1  receptor expression-enhancing protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92797.1
    UniProtKB/TrEMBL
    A0A8I5QKJ2
    Related
    ENSP00000508496.1, ENST00000691703.1

  8. NM_022912.3 → NP_075063.1  receptor expression-enhancing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_075063.1

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS1989.1
    UniProtKB/Swiss-Prot
    B7Z4D7, B7Z4F2, B7Z5R9, D6W5M2, Q53TI0, Q9H902
    UniProtKB/TrEMBL
    B7Z4H9
    Related
    ENSP00000165698.5, ENST00000165698.9
    Conserved Domains (1) summary
    pfam03134
    Location:19 → 94
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017004725.2 → XP_016860214.1  receptor expression-enhancing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8YD64

  2. XM_017004726.2 → XP_016860215.1  receptor expression-enhancing protein 1 isoform X5

  3. XM_017004727.2 → XP_016860216.1  receptor expression-enhancing protein 1 isoform X6

    UniProtKB/TrEMBL
    B7Z4H9

  4. XM_011533045.2 → XP_011531347.1  receptor expression-enhancing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A2R8YD64
    Related
    ENSP00000494305.1, ENST00000644644.1
    Conserved Domains (1) summary
    pfam03134
    Location:4 → 86
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  5. XM_005264504.2 → XP_005264561.1  receptor expression-enhancing protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD64
    Conserved Domains (1) summary
    pfam03134
    Location:1 → 56
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  6. XM_047445536.1 → XP_047301492.1  receptor expression-enhancing protein 1 isoform X7

  7. XM_011533044.2 → XP_011531346.1  receptor expression-enhancing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A2R8YD64
    Conserved Domains (1) summary
    pfam03134
    Location:2 → 88
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

  8. XM_047445537.1 → XP_047301493.1  receptor expression-enhancing protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    86216087..86340099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343428.1 → XP_054199403.1  receptor expression-enhancing protein 1 isoform X1

  2. XM_054343432.1 → XP_054199407.1  receptor expression-enhancing protein 1 isoform X5

  3. XM_054343433.1 → XP_054199408.1  receptor expression-enhancing protein 1 isoform X6

  4. XM_054343430.1 → XP_054199405.1  receptor expression-enhancing protein 1 isoform X3

  5. XM_054343431.1 → XP_054199406.1  receptor expression-enhancing protein 1 isoform X4

  6. XM_054343434.1 → XP_054199409.1  receptor expression-enhancing protein 1 isoform X7

  7. XM_054343429.1 → XP_054199404.1  receptor expression-enhancing protein 1 isoform X2

  8. XM_054343435.1 → XP_054199410.1  receptor expression-enhancing protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H902.1 GenPept UniProtKB/Swiss-Prot:Q9H902

Gene LinkOut

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