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    ICE1 interactor of little elongation complex ELL subunit 1 [ Homo sapiens (human) ]

    Gene ID: 23379, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ICE1provided by HGNC
    Official Full Name
    interactor of little elongation complex ELL subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:29154
    See related
    Ensembl:ENSG00000164151 MIM:617958; AllianceGenome:HGNC:29154
    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
    KIAA0947
    Summary
    Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; histone locus body; and transcriptionally active chromatin. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 7.5), brain (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5p15.32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (5422677..5490220)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (5350239..5417793)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (5422790..5490333)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22323 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5421524-5422036 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5422037-5422547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15892 Neighboring gene MT-CO2 pseudogene 30 Neighboring gene MT-CO1 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5497406-5497930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5497931-5498453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5511108-5511904 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:5520403-5521049 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:5521050-5521695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5536038-5536538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5569545-5570081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5570631-5571270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5573793-5574352 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:5598283-5599482 Neighboring gene NANOG hESC enhancer GRCh37_chr5:5621457-5621987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5651964-5652474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5652475-5652984 Neighboring gene uncharacterized LOC105374634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22327 Neighboring gene uncharacterized LOC105374636

    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
    • 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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    Related articles in PubMed

    1. ICE1 promotes the link between splicing and nonsense-mediated mRNA decay. Baird TD, et al. Elife, 2018 Mar 12. PMID 29528287, Free PMC Article
    2. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Zhang B, et al. Am J Med Genet A, 2016 Mar. PMID 26601658
    3. p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex. Anwar D, et al. Biochim Biophys Acta, 2016 Aug. PMID 27268141
    4. A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II. Hutten S, et al. J Cell Sci, 2014 Mar 1. PMID 24413172, Free PMC Article
    5. Biochemical characterization of protease activity of Nsp3 from SARS-CoV-2 and its inhibition by nanobodies. Armstrong LA, et al. PLoS One, 2021. PMID 34270554, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNAseq studies reveal that depletion of ICE1 globally enhances accumulation and stability of NMD-target mRNAs. Further, our data suggest that ICE1 uses a putative MIF4G domain to interact with exon junction complex (EJC) proteins and promotes the association of the NMD protein UPF3B with the EJC.
      Title: ICE1 promotes the link between splicing and nonsense-mediated mRNA decay.
    2. The results indicate that p53 interferes with the interaction between ELL/EAF and ICE1 and represses transcription of small nuclear RNA genes by Pol II.
      Title: p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.
    3. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions resulting in Cri-du-Chat Syndrome with SEMA5A, CTNND2, and ICE1 deficiencies has been described.
      Title: Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0947, DKFZp781J2344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase III IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in snRNA transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in snRNA transcription by RNA polymerase III IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of euchromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in histone locus body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    little elongation complex subunit 1
    Names
    interactor of little elongator complex ELL subunit 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_015325.3 → NP_056140.1  little elongation complex subunit 1

      See identical proteins and their annotated locations for NP_056140.1

      Status: VALIDATED

      Source sequence(s)
      AB023164, AL832204, CR749441, DA217623
      Consensus CDS
      CCDS47187.1
      UniProtKB/Swiss-Prot
      Q68DE1, Q6ZT40, Q7L587, Q7Z3A9, Q9NTH9, Q9Y2F5
      Related
      ENSP00000296564.7, ENST00000296564.9
      Conserved Domains (1) summary
      cl09810
      Location:27 → 181
      DUF2031; Protein of unknown function (DUF2031)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      5422677..5490220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513999.3 → XP_011512301.1  little elongation complex subunit 1 isoform X1

      Conserved Domains (1) summary
      cl09810
      Location:27 → 181
      DUF2031; Protein of unknown function (DUF2031)

    2. XM_047417046.1 → XP_047273002.1  little elongation complex subunit 1 isoform X2

    3. XM_047417047.1 → XP_047273003.1  little elongation complex subunit 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      5350239..5417793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352245.1 → XP_054208220.1  little elongation complex subunit 1 isoform X1

    2. XM_054352246.1 → XP_054208221.1  little elongation complex subunit 1 isoform X2

    3. XM_054352247.1 → XP_054208222.1  little elongation complex subunit 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2F5.5 GenPept UniProtKB/Swiss-Prot:Q9Y2F5

    Gene LinkOut

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

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