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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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