U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 65055, updated on 9-Dec-2024

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; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001164730.2NP_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:19101
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. NM_001164731.2NP_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:967
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  3. NM_001164732.2NP_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:1961
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  4. NM_001371279.1NP_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:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  5. NM_001371280.1NP_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:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  6. NM_001410855.1NP_001397784.1  receptor expression-enhancing protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92796.1
    UniProtKB/TrEMBL
    A0A2R8Y6K6, A0A2R8YD64
    Related
    ENSP00000495610.2, ENST00000643817.2
  7. NM_001410856.1NP_001397785.1  receptor expression-enhancing protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC009309, AC009408
    Consensus CDS
    CCDS92797.1
    UniProtKB/TrEMBL
    A0A8I5QKJ2, B7Z4H9
    Related
    ENSP00000508496.1, ENST00000691703.1
  8. NM_022912.3NP_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:1994
    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_017004725.2XP_016860214.1  receptor expression-enhancing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8YD64
  2. XM_017004726.2XP_016860215.1  receptor expression-enhancing protein 1 isoform X5

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

    UniProtKB/TrEMBL
    B7Z4H9
  4. XM_011533045.2XP_011531347.1  receptor expression-enhancing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A2R8YD64
    Related
    ENSP00000494305.1, ENST00000644644.1
    Conserved Domains (1) summary
    pfam03134
    Location:486
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  5. XM_005264504.2XP_005264561.1  receptor expression-enhancing protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD64
    Conserved Domains (1) summary
    pfam03134
    Location:156
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  6. XM_047445536.1XP_047301492.1  receptor expression-enhancing protein 1 isoform X7

    UniProtKB/TrEMBL
    B7Z4H9
  7. XM_011533044.2XP_011531346.1  receptor expression-enhancing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A2R8YD64
    Conserved Domains (1) summary
    pfam03134
    Location:288
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  8. XM_047445537.1XP_047301493.1  receptor expression-enhancing protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD64

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_054343428.1XP_054199403.1  receptor expression-enhancing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8YD64
  2. XM_054343432.1XP_054199407.1  receptor expression-enhancing protein 1 isoform X5

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

    UniProtKB/TrEMBL
    B7Z4H9
  4. XM_054343430.1XP_054199405.1  receptor expression-enhancing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A2R8YD64
  5. XM_054343431.1XP_054199406.1  receptor expression-enhancing protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD64
  6. XM_054343434.1XP_054199409.1  receptor expression-enhancing protein 1 isoform X7

    UniProtKB/TrEMBL
    B7Z4H9
  7. XM_054343429.1XP_054199404.1  receptor expression-enhancing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A2R8YD64
  8. XM_054343435.1XP_054199410.1  receptor expression-enhancing protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A2R8YD64