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

    Gene ID: 26098, updated on 17-Jun-2019

    Summary

    Official Symbol
    EDRF1provided by HGNC
    Official Full Name
    erythroid differentiation regulatory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:24640
    See related
    Ensembl:ENSG00000107938
    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

    Genomic context

    See EDRF1 in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (125719515..125764143)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127408084..127452712)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283038 Neighboring gene uncharacterized LOC107984277 Neighboring gene EDRF1 divergent transcript Neighboring gene EDRF1 antisense RNA 1 Neighboring gene matrix metallopeptidase 21 Neighboring gene uroporphyrinogen III synthase Neighboring gene microRNA 4484

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC125705

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    erythroid differentiation-related factor 1

    NCBI Reference Sequences (RefSeq)

    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_001202438.2NP_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
      Q3B7T1
      Related
      ENSP00000349244.4, ENST00000356792.9
    2. NM_015608.2NP_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)
      AK091507, AL050102, BC026172
      Consensus CDS
      CCDS7646.1
      UniProtKB/Swiss-Prot
      Q3B7T1
      Related
      ENSP00000336727.3, ENST00000337623.7

    RNA

    1. NR_110857.1 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, AL158835, BC026172, BC105929
      Related
      ENST00000368815.6
    2. NR_110858.1 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
      Related
      ENST00000419769.6
    3. NR_110859.1 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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      125719515..125764143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016066.2XP_016871555.1  erythroid differentiation-related factor 1 isoform X1

    2. XM_011539622.1XP_011537924.1  erythroid differentiation-related factor 1 isoform X1

    RNA

    1. XR_945662.3 RNA Sequence

    2. XR_001747086.2 RNA Sequence

    3. XR_002956973.1 RNA Sequence

    4. XR_001747089.2 RNA Sequence

    5. XR_001747087.2 RNA Sequence

    6. XR_001747088.2 RNA Sequence

    7. XR_945663.3 RNA Sequence

    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.
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