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    REEP3 receptor accessory protein 3 [ Homo sapiens (human) ]

    Gene ID: 221035, updated on 5-Mar-2024

    Summary

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    Official Symbol
    REEP3provided by HGNC
    Official Full Name
    receptor accessory protein 3provided by HGNC
    Primary source
    HGNC:HGNC:23711
    See related
    Ensembl:ENSG00000165476 MIM:609348; AllianceGenome:HGNC:23711
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Yip2b; C10orf74
    Summary
    Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Predicted to be integral component of membrane. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 7.0), small intestine (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See REEP3 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (63521401..63625128)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (64379547..64483523)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (65281161..65384888)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene jumonji domain containing 1C Neighboring gene JMJD1C antisense RNA 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:65224969-65225758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3440 Neighboring gene JMJD1C antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2409 Neighboring gene Sharpr-MPRA regulatory region 5662 Neighboring gene uncharacterized LOC105378329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2411 Neighboring gene uncharacterized LOC107984238 Neighboring gene uncharacterized LOC101929846 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 2

    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
    • 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. REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis. Kumar D, et al. Mol Biol Cell, 2019 Jun 1. PMID 30995177, Free PMC Article
    2. Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Castermans D, et al. Eur J Hum Genet, 2007 Apr. PMID 17290275
    3. CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway. Wei H, et al. J Cell Mol Med, 2020 Dec. PMID 33179443, Free PMC Article
    4. Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men. Jin G, et al. Hum Mol Genet, 2012 Dec 1. PMID 22936694, Free PMC Article
    5. REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture. Schlaitz AL, et al. Dev Cell, 2013 Aug 12. PMID 23911198, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway.
      Title: CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway.
    2. the endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase cells.
      Title: REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis.
    3. Our results show that REEP3/4 function redundantly to clear the endoplasmic reticulum from metaphase chromatin, thereby ensuring correct progression through mitosis and proper nuclear envelope architecture.
      Title: REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    6. Receptor Expression-Enhancing Proteins (REEP) 3 is one of the six human homologs of yeast Yop1p, a probable regulator of cellular vesicle trafficking between the endoplasmatic reticulum and the Golgi network. Positional candidate gene for autism.
      Title: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
    EBI GWAS Catalog
    Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC87479

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic nuclear membrane reassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    receptor expression-enhancing protein 3

    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.

    mRNA and Protein(s)

    1. NM_001001330.3 → NP_001001330.1  receptor expression-enhancing protein 3

      See identical proteins and their annotated locations for NP_001001330.1

      Status: VALIDATED

      Source sequence(s)
      AC022387, BC068557
      Consensus CDS
      CCDS44411.1
      UniProtKB/Swiss-Prot
      Q5JQR5, Q5QGT2, Q6NUK4, Q6PEW8, Q6PJY4
      UniProtKB/TrEMBL
      A8K1R1, X5DR89
      Related
      ENSP00000362863.4, ENST00000373758.5
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 95
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      63521401..63625128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539501.3 → XP_011537803.1  receptor expression-enhancing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011537803.1

      UniProtKB/TrEMBL
      X5DP57
      Conserved Domains (1) summary
      pfam03134
      Location:7 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    2. XM_017015896.2 → XP_016871385.1  receptor expression-enhancing protein 3 isoform X1

      UniProtKB/TrEMBL
      X5DP57
      Conserved Domains (1) summary
      pfam03134
      Location:7 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      64379547..64483523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365103.1 → XP_054221078.1  receptor expression-enhancing protein 3 isoform X1

      UniProtKB/TrEMBL
      X5DP57

    2. XM_054365104.1 → XP_054221079.1  receptor expression-enhancing protein 3 isoform X1

      UniProtKB/TrEMBL
      X5DP57
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUK4.1 GenPept UniProtKB/Swiss-Prot:Q6NUK4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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