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    EDRF1 erythroid differentiation regulatory factor 1 [ Homo sapiens (human) ]

    Gene ID: 26098, updated on 14-Nov-2024

    Summary

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    Official Symbol
    EDRF1provided by HGNC
    Official Full Name
    erythroid differentiation regulatory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:24640
    See related
    Ensembl:ENSG00000107938 MIM:620463; AllianceGenome:HGNC:24640
    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
    C10orf137
    Summary
    This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
    Expression
    Broad expression in testis (RPKM 13.3), lymph node (RPKM 7.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EDRF1 in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125719709..125764139)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126602160..126646589)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127408278..127452708)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene testis expressed 36 Neighboring gene ALDOA pseudogene 2 Neighboring gene uncharacterized LOC283038 Neighboring gene EDRF1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127408179-127409161 Neighboring gene EDRF1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2924 Neighboring gene matrix metallopeptidase 21 Neighboring gene uroporphyrinogen III synthase Neighboring gene CRISPRi-validated UROS cis-regulatory element Neighboring gene microRNA 4484

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. EDRF1 regulated alpha- and gamma-globin gene synthesis by modulating DNA-binding activity of GATA-1 transcription factor.
      Title: A novel erythroid differentiation related gene EDRF1 upregulating globin gene expression in HEL cells.
    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

    • MGC125705

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    erythroid differentiation-related factor 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001202438.2 → NP_001189367.1  erythroid differentiation-related factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001189367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL050102, BC026172, BC107479
      Consensus CDS
      CCDS55733.1
      UniProtKB/Swiss-Prot
      B2RC65, Q3B7T1, Q3KR40, Q4G190, Q5VZQ4, Q8IZ74, Q9Y3W4
      Related
      ENSP00000349244.4, ENST00000356792.9

    2. NM_015608.3 → NP_056423.2  erythroid differentiation-related factor 1 isoform 2

      See identical proteins and their annotated locations for NP_056423.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL158835
      Consensus CDS
      CCDS7646.1
      UniProtKB/Swiss-Prot
      Q3B7T1
      Related
      ENSP00000336727.3, ENST00000337623.7

    RNA

    1. NR_110857.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL050102, BC105929
      Related
      ENST00000368815.6

    2. NR_110858.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL050102, AL158835, BC026172

    3. NR_110859.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has a different 3' structure and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL158835, BC028715
      Related
      ENST00000481600.5

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      125719709..125764139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425035.1 → XP_047280991.1  erythroid differentiation-related factor 1 isoform X1

    2. XM_047425036.1 → XP_047280992.1  erythroid differentiation-related factor 1 isoform X3

    3. XM_047425037.1 → XP_047280993.1  erythroid differentiation-related factor 1 isoform X4

    4. XM_047425039.1 → XP_047280995.1  erythroid differentiation-related factor 1 isoform X5

      Related
      ENSP00000396544.2, ENST00000419769.6

    5. XM_047425040.1 → XP_047280996.1  erythroid differentiation-related factor 1 isoform X6

    6. XM_011539622.2 → XP_011537924.1  erythroid differentiation-related factor 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      126602160..126646589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365515.1 → XP_054221490.1  erythroid differentiation-related factor 1 isoform X1

    2. XM_054365517.1 → XP_054221492.1  erythroid differentiation-related factor 1 isoform X3

    3. XM_054365518.1 → XP_054221493.1  erythroid differentiation-related factor 1 isoform X4

    4. XM_054365519.1 → XP_054221494.1  erythroid differentiation-related factor 1 isoform X5

    5. XM_054365520.1 → XP_054221495.1  erythroid differentiation-related factor 1 isoform X6

    6. XM_054365516.1 → XP_054221491.1  erythroid differentiation-related factor 1 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030897.1: Suppressed sequence

      Description
      NM_030897.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3B7T1.1 GenPept UniProtKB/Swiss-Prot:Q3B7T1

    Gene LinkOut

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

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