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    ELOF1 elongation factor 1 [ Homo sapiens (human) ]

    Gene ID: 84337, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ELOF1provided by HGNC
    Official Full Name
    elongation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:28691
    See related
    Ensembl:ENSG00000130165 MIM:619818; AllianceGenome:HGNC:28691
    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
    ELF1
    Summary
    Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in transcription elongation by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 39.1), prostate (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELOF1 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11553046..11559230, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11680553..11686741, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11663861..11670045, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ECSIT signaling integrator Neighboring gene ribosomal protein S12 pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11648637-11649582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14022 Neighboring gene calponin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11662408-11663379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14024 Neighboring gene Sharpr-MPRA regulatory region 7075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14025 Neighboring gene uncharacterized LOC124904638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11687946-11688558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11688559-11689170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14027 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11692934-11693099 Neighboring gene acid phosphatase 5, tartrate resistant Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14029 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 76

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability. Geijer ME, et al. Nat Cell Biol, 2021 Jun. PMID 34108662, Free PMC Article
    2. Identification and characterization of Elf1, a conserved transcription elongation factor in Saccharomyces cerevisiae. Prather D, et al. Mol Cell Biol, 2005 Nov. PMID 16260625, Free PMC Article
    3. Cell-free cotranslation and selection using in vitro virus for high-throughput analysis of protein-protein interactions and complexes. Miyamoto-Sato E, et al. Genome Res, 2005 May. PMID 15867431, Free PMC Article
    4. ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation. van der Weegen Y, et al. Nat Cell Biol, 2021 Jun. PMID 34108663, Free PMC Article
    5. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. Tsang HT, et al. Genomics, 2006 Sep. PMID 16730941

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation.
      Title: ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation.
    2. Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability.
      Title: Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in transcription elongation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of transcription elongation factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription elongation factor 1 homolog
    Names
    ELF1 homolog, elongation factor 1
    elongation factor 1 homolog (ELF1, S. cerevisiae)

    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_001363673.3 → NP_001350602.2  transcription elongation factor 1 homolog

      Status: VALIDATED

      Source sequence(s)
      AC008481
      Consensus CDS
      CCDS12264.1
      UniProtKB/Swiss-Prot
      P60002, Q8R1J7, Q96II4
      UniProtKB/TrEMBL
      K7EPC8
      Related
      ENSP00000465765.2, ENST00000587806.5
      Conserved Domains (1) summary
      pfam05129
      Location:20 → 80
      Elf1; Transcription elongation factor Elf1 like

    2. NM_001363674.4 → NP_001350603.2  transcription elongation factor 1 homolog

      Status: VALIDATED

      Source sequence(s)
      AC008481, AC009001
      Consensus CDS
      CCDS12264.1
      UniProtKB/Swiss-Prot
      P60002, Q8R1J7, Q96II4
      UniProtKB/TrEMBL
      K7EPC8
      Conserved Domains (1) summary
      pfam05129
      Location:20 → 80
      Elf1; Transcription elongation factor Elf1 like

    3. NM_001363675.4 → NP_001350604.2  transcription elongation factor 1 homolog

      Status: VALIDATED

      Source sequence(s)
      AC008481, AC009001
      Consensus CDS
      CCDS12264.1
      UniProtKB/Swiss-Prot
      P60002, Q8R1J7, Q96II4
      UniProtKB/TrEMBL
      K7EPC8
      Conserved Domains (1) summary
      pfam05129
      Location:20 → 80
      Elf1; Transcription elongation factor Elf1 like

    4. NM_032377.4 → NP_115753.1  transcription elongation factor 1 homolog

      See identical proteins and their annotated locations for NP_115753.1

      Status: VALIDATED

      Source sequence(s)
      AC008481, BG718042
      Consensus CDS
      CCDS12264.1
      UniProtKB/Swiss-Prot
      P60002, Q8R1J7, Q96II4
      UniProtKB/TrEMBL
      K7EPC8
      Related
      ENSP00000252445.3, ENST00000252445.8
      Conserved Domains (1) summary
      pfam05129
      Location:20 → 80
      Elf1; Transcription elongation factor Elf1 like

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11553046..11559230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11680553..11686741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60002.1 GenPept UniProtKB/Swiss-Prot:P60002

    Gene LinkOut

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

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