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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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

RH77699 (e-PCR)
- UniSTS:23574

D5S1786 (e-PCR)
- UniSTS:153598

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)

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

5422677..5490220

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
XM_047417046.1 → XP_047273002.1 little elongation complex subunit 1 isoform X2
XM_047417047.1 → XP_047273003.1 little elongation complex subunit 1 isoform X3