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

Gene ID: 440712, updated on 26-Oct-2022

Summary

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, Apr 2022]
Expression
Broad expression in endometrium (RPKM 4.0), gall bladder (RPKM 2.3) and 16 other tissues See more
Orthologs
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Genomic context

See RHEX in Genome Data Viewer
Location:
1q32.1
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206053173..206102449)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205317175..205366491)
105.20220307 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 cathepsin E Neighboring gene uncharacterized LOC105372857 Neighboring gene Sharpr-MPRA regulatory region 5780 Neighboring gene small nucleolar RNA SNORD60 Neighboring gene uncharacterized LOC124904492 Neighboring gene Sharpr-MPRA regulatory region 13667 Neighboring gene arginine vasopressin receptor 1B

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001007544.4NP_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:7172
    DUF4692; Domain of unknown function (DUF4692)
  2. NM_001369490.1NP_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:7172
    DUF4692; Domain of unknown function (DUF4692)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)