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    RHEX regulator of hemoglobinization and erythroid cell expansion [ Homo sapiens (human) ]

    Gene ID: 440712, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RHEXprovided by HGNC
    Official Full Name
    regulator of hemoglobinization and erythroid cell expansionprovided by HGNC
    Primary source
    HGNC:HGNC:25341
    See related
    Ensembl:ENSG00000263961 MIM:616088; AllianceGenome:HGNC:25341
    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
    C1orf186
    Summary
    Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in endometrium (RPKM 4.0), gall bladder (RPKM 2.3) and 16 other tissues See more
    Orthologs
    all
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    Genomic context

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    See RHEX in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206053173..206102449)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205317175..205366491)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206238882..206288197, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SLC26A9 and RAB7B antisense RNA 1 Neighboring gene RAB7B, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206328947-206329447 Neighboring gene cathepsin E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206299039-206299540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2395 Neighboring gene uncharacterized LOC105372857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2396 Neighboring gene Sharpr-MPRA regulatory region 5780 Neighboring gene small nucleolar RNA SNORD60 Neighboring gene Sharpr-MPRA regulatory region 13667 Neighboring gene arginine vasopressin receptor 1B Neighboring gene AVPR1B divergent transcript Neighboring gene uncharacterized LOC105372869

    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. Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells. Franke K, et al. Cells, 2023 May 3. PMID 37174705, Free PMC Article
    2. RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development. Verma R, et al. J Exp Med, 2014 Aug 25. PMID 25092874, Free PMC Article
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells.
      Title: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human Skin Mast Cells.
    2. RHEX(C1orf186) comprises a new EPO/EPOR target and regulator of erythroid cell expansion that additionally acts to support late-stage erythroblast development
      Title: RHEX, a novel regulator of human erythroid progenitor cell expansion and erythroblast development.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables erythropoietin receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to erythropoietin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in erythropoietin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulator of hemoglobinization and erythroid cell expansion protein
    Names
    regulator of human erythroid cell expansion protein
    uncharacterized protein C1orf186

    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_001007544.4 → NP_001007545.1  regulator of hemoglobinization and erythroid cell expansion protein

      See identical proteins and their annotated locations for NP_001007545.1

      Status: VALIDATED

      Source sequence(s)
      AI683243, AK122631, BC071785
      Consensus CDS
      CCDS73014.1
      UniProtKB/Swiss-Prot
      Q6ZWK4
      Related
      ENSP00000356093.1, ENST00000331555.10
      Conserved Domains (1) summary
      pfam15763
      Location:7 → 172
      DUF4692; Domain of unknown function (DUF4692)

    2. NM_001369490.1 → NP_001356419.1  regulator of hemoglobinization and erythroid cell expansion protein

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS73014.1
      UniProtKB/Swiss-Prot
      Q6ZWK4
      Related
      ENSP00000474994.1, ENST00000603488.5
      Conserved Domains (1) summary
      pfam15763
      Location:7 → 172
      DUF4692; Domain of unknown function (DUF4692)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      206053173..206102449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      205317175..205366491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZWK4.1 GenPept UniProtKB/Swiss-Prot:Q6ZWK4

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