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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
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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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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

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