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Aliases for ICE1 Gene

Aliases for ICE1 Gene

  • Interactor Of Little Elongation Complex ELL Subunit 1 2 3 5
  • KIAA0947 2 3 4
  • Interactor Of Little Elongator Complex ELL Subunit 1 3 4
  • Little Elongation Complex Subunit 1 3

External Ids for ICE1 Gene

Previous HGNC Symbols for ICE1 Gene

  • KIAA0947

Summaries for ICE1 Gene

GeneCards Summary for ICE1 Gene

ICE1 (Interactor Of Little Elongation Complex ELL Subunit 1) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. GO annotations related to this gene include protein homodimerization activity and lipid transporter activity.

UniProtKB/Swiss-Prot for ICE1 Gene

  • Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ICE1 Gene

Genomics for ICE1 Gene

Regulatory Elements for ICE1 Gene

Enhancers for ICE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ICE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ICE1 Gene

Chromosome:
5
Start:
5,420,664 bp from pter
End:
5,490,234 bp from pter
Size:
69,571 bases
Orientation:
Plus strand

Genomic View for ICE1 Gene

Genes around ICE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ICE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ICE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ICE1 Gene

Proteins for ICE1 Gene

  • Protein details for ICE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2F5-ICE1_HUMAN
    Recommended name:
    Little elongation complex subunit 1
    Protein Accession:
    Q9Y2F5
    Secondary Accessions:
    • Q68DE1
    • Q6ZT40
    • Q7L587
    • Q7Z3A9
    • Q9NTH9

    Protein attributes for ICE1 Gene

    Size:
    2266 amino acids
    Molecular mass:
    247891 Da
    Quaternary structure:
    • Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts (via N-terminus domain) with ELL. Interacts (via C-terminus domain) with ICE2 and ZC3H8.
    SequenceCaution:
    • Sequence=BAA76791.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC86755.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAB70661.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB70661.1; Type=Erroneous termination; Positions=2051; Note=Translated as Gln.; Evidence={ECO:0000305};

neXtProt entry for ICE1 Gene

Post-translational modifications for ICE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ICE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ICE1 Gene

Domains & Families for ICE1 Gene

Protein Domains for ICE1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y2F5

UniProtKB/Swiss-Prot:

ICE1_HUMAN :
  • The N-termimus domain is necessary and sufficient for its targeting to subnuclear cajal and histone locus bodies.
  • Belongs to the ICE1 family.
Domain:
  • The N-termimus domain is necessary and sufficient for its targeting to subnuclear cajal and histone locus bodies.
Family:
  • Belongs to the ICE1 family.
genes like me logo Genes that share domains with ICE1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ICE1 Gene

Function for ICE1 Gene

Molecular function for ICE1 Gene

UniProtKB/Swiss-Prot Function:
Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780).

Gene Ontology (GO) - Molecular Function for ICE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22195968
GO:0042803 protein homodimerization activity TAS 23932780
genes like me logo Genes that share ontologies with ICE1: view

Phenotypes for ICE1 Gene

genes like me logo Genes that share phenotypes with ICE1: view

Animal Model Products

miRNA for ICE1 Gene

miRTarBase miRNAs that target ICE1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ICE1 Gene

Localization for ICE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ICE1 Gene

Nucleus. Nucleus, Cajal body. Note=Colocalizes with COIL in subnuclear Cajal and histone locus bodies. Associates to transcriptionally active chromatin at snRNA genes. {ECO:0000269 PubMed:23932780}.

Gene Ontology (GO) - Cellular Components for ICE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IDA 23932780
GO:0015030 Cajal body IDA 22195968
GO:0035327 transcriptionally active chromatin IDA 22195968
GO:0035363 histone locus body IDA 23932780
genes like me logo Genes that share ontologies with ICE1: view

No data available for Subcellular locations from COMPARTMENTS for ICE1 Gene

Pathways & Interactions for ICE1 Gene

genes like me logo Genes that share pathways with ICE1: view

Pathways by source for ICE1 Gene

Gene Ontology (GO) - Biological Process for ICE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031334 positive regulation of protein complex assembly IMP 23932780
GO:0042795 snRNA transcription from RNA polymerase II promoter TAS --
GO:0042796 snRNA transcription from RNA polymerase III promoter IMP 23932780
GO:0045945 positive regulation of transcription from RNA polymerase III promoter IMP 23932780
GO:0090316 positive regulation of intracellular protein transport IMP 23932780
genes like me logo Genes that share ontologies with ICE1: view

No data available for SIGNOR curated interactions for ICE1 Gene

Drugs & Compounds for ICE1 Gene

No Compound Related Data Available

Transcripts for ICE1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ICE1 Gene

No ASD Table

Relevant External Links for ICE1 Gene

GeneLoc Exon Structure for
ICE1
ECgene alternative splicing isoforms for
ICE1

Expression for ICE1 Gene

mRNA expression in normal human tissues for ICE1 Gene

Protein differential expression in normal tissues from HIPED for ICE1 Gene

This gene is overexpressed in Nasal epithelium (47.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ICE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ICE1 Gene:

ICE1
genes like me logo Genes that share expression patterns with ICE1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ICE1 Gene

Orthologs for ICE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ICE1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia BC018507 34
  • 71.74 (n)
  • 62.85 (a)
Ice1 16
BC018507 35
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309747 34
  • 71.55 (n)
  • 62.8 (a)
cow
(Bos Taurus)
Mammalia KIAA0947 35
  • 62 (a)
OneToOne
KIAA0947 34
  • 68.09 (n)
  • 62.4 (a)
dog
(Canis familiaris)
Mammalia KIAA0947 35
  • 77 (a)
OneToOne
KIAA0947 34
  • 77.26 (n)
  • 70.6 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA0947 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0947 35
  • 34 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0947 35
  • 99 (a)
OneToOne
KIAA0947 34
  • 98.98 (n)
  • 98.55 (a)
chicken
(Gallus gallus)
Aves -- 35
  • 55 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia KIAA0947 35
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KIAA0947 (2 of 2) 35
  • 28 (a)
OneToMany
kiaa0947l 35
  • 28 (a)
OneToMany
Species where no ortholog for ICE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ICE1 Gene

ENSEMBL:
Gene Tree for ICE1 (if available)
TreeFam:
Gene Tree for ICE1 (if available)

Paralogs for ICE1 Gene

No data available for Paralogs for ICE1 Gene

Variants for ICE1 Gene

Sequence variations from dbSNP and Humsavar for ICE1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs2619844 - 5,460,506(+) TGAGT(C/G/T)TGTTT nc-transcript-variant, reference, missense
rs10475299 - 5,461,120(+) AGGAA(A/G)AAGAA nc-transcript-variant, reference, missense
rs2578500 - 5,462,035(+) CAACT(A/G/T)TAGCA nc-transcript-variant, reference, missense
rs3806873 - 5,462,494(+) AATCT(A/G)CAACT nc-transcript-variant, reference, missense
rs3806874 - 5,462,507(+) CGGTG(A/G)TGCTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ICE1 Gene

Variant ID Type Subtype PubMed ID
esv2759319 CNV loss 17122850
esv3603900 CNV gain 21293372
nsv1021802 CNV gain+loss 25217958
nsv528309 CNV loss 19592680

Variation tolerance for ICE1 Gene

Residual Variation Intolerance Score: 72.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.00; 68.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ICE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ICE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ICE1 Gene

Disorders for ICE1 Gene

Relevant External Links for ICE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ICE1

No disorders were found for ICE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ICE1 Gene

Publications for ICE1 Gene

  1. The little elongation complex functions at initiation and elongation phases of snRNA gene transcription. (PMID: 23932780) Hu D. … Shilatifard A. (Mol. Cell 2013) 2 3 4 65
  2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 65
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 65

Products for ICE1 Gene

Sources for ICE1 Gene

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