ABCE1 ATP binding cassette subfamily E member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCE1provided by HGNC
Official Full Name: ATP binding cassette subfamily E member 1provided by HGNC
Primary source: HGNC:HGNC:69
See related: Ensembl:ENSG00000164163 MIM:601213; AllianceGenome:HGNC:69
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: RLI; OABP; RLI1; ABC38; RNS4I; RNASEL1; RNASELI
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in appendix (RPKM 18.4), lymph node (RPKM 18.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.21

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (145098311..145129524)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (148415703..148446916)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (146019463..146050676)

Chromosome 4 - NC_000004.12 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 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?

Restoration of miR-299-3p promotes macrophage phagocytosis and suppresses malignant phenotypes in breast cancer carcinogenesis via dual-targeting CD47 and ABCE1.
Title: Restoration of miR-299-3p promotes macrophage phagocytosis and suppresses malignant phenotypes in breast cancer carcinogenesis via dual-targeting CD47 and ABCE1.
ABCE1 selectively promotes HIF-1alpha transactivation of angiogenic gene expression.
Title: ABCE1 selectively promotes HIF-1α transactivation of angiogenic gene expression.
A pan-cancer analysis of the oncogenic role of ATP binding cassette subfamily E member 1 (ABCE1) in human tumors: An observational study.
Title: A pan-cancer analysis of the oncogenic role of ATP binding cassette subfamily E member 1 (ABCE1) in human tumors: An observational study.
The Expression and Effect of ABCE1 in Gastric Adenocarcinoma.
Title: The Expression and Effect of ABCE1 in Gastric Adenocarcinoma.
Human ABCE1 exhibits temperature-dependent heterologous co-functionality in S. cerevisiae.
Title: Human ABCE1 exhibits temperature-dependent heterologous co-functionality in S. cerevisiae.
FOXO3a-dependent Parkin regulates the development of gastric cancer by targeting ATP-binding cassette transporter E1.
Title: FOXO3a-dependent Parkin regulates the development of gastric cancer by targeting ATP-binding cassette transporter E1.
ABCE1 Regulates RNase L-Induced Autophagy during Viral Infections.
Title: ABCE1 Regulates RNase L-Induced Autophagy during Viral Infections.
MicroRNA145 promotes the apoptosis of leukemic stem cells and enhances drugresistant K562/ADM cell sensitivity to adriamycin via the regulation of ABCE1.
Title: MicroRNA‑145 promotes the apoptosis of leukemic stem cells and enhances drug‑resistant K562/ADM cell sensitivity to adriamycin via the regulation of ABCE1.
Ribosome Recycling by ABCE1 Links Lysosomal Function and Iron Homeostasis to 3' UTR-Directed Regulation and Nonsense-Mediated Decay.
Title: Ribosome Recycling by ABCE1 Links Lysosomal Function and Iron Homeostasis to 3' UTR-Directed Regulation and Nonsense-Mediated Decay.
A structural inventory of native ribosomal ABCE1-43S pre-initiation complexes.
Title: A structural inventory of native ribosomal ABCE1-43S pre-initiation complexes.

Submit: New GeneRIF Correction See all GeneRIFs (48)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	The nucleocapsid (NC) domain of Gag is critical for interaction with endogenous ABCE1 in primate cells; basic residues in NC are critical for the Gag-ABCE1 interaction, while the cysteine and histidine residues in the zinc fingers are dispensable	PubMed
	gag	ABCE1, DDX6, and AGO2 proteins are associated with HIV-1 Gag in the intracellular high-molecular-weight assembly intermediates	PubMed
	gag	ABCE1 co-localizes with Gag clusters present at the plasma membrane	PubMed
	gag	Expression of TULA proteins reduces the production of HIV-1 particles and modulates Gag processing. ABCE1 recruits TULA to Gag	PubMed
	gag	HIV-1 GagZip chimeric proteins, in which NC was replaced with a heterologous leucine zipper, form ABCE1-containing intermediates, suggesting exposure of an ABCE1-binding domain located elsewhere in Gag, outside NC	PubMed
	gag	Gag production is significantly increased by fusing HIV-1-infected CD4- and CXCR4-expressing rat fibroblasts with uninfected human T-, B-, and macrophage cell lines. This process is regulated by HP68 and MHC class II transactivator (CIITA)	PubMed
	gag	Cells expressing a protease-deficient HIV-1 molecular clone demonstrate a prolonged association of Gag and ABCE1	PubMed
	gag	HP68 associates post-translationally with HIV-1 Gag and Vif, an interaction that requires the Nucleocapsid domain of Gag and that is essential for assembly of immature HIV-1 capsids	PubMed
Vif	vif	HuHP68 is essential for HIV-1 capsid assembly and associates with HIV-1 Vif in the form of an HuHP68 complex with HIV-1 Gag	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2278 (e-PCR)
- UniSTS:473906

ABCE1 (e-PCR)
- UniSTS:503368

D1S1423 (e-PCR)
- UniSTS:149619

GDB:451571 (e-PCR)
- UniSTS:157314

RH70908 (e-PCR)
- UniSTS:71080

RH104489 (e-PCR)
- UniSTS:98801

SHGC-50255 (e-PCR)
- UniSTS:82170

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables CTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables endoribonuclease inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoside triphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal small subunit binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of endoribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosome disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational termination	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational termination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family E member 1

Names: 2'-5'-oligoadenylate-binding protein; ATP-binding cassette, sub-family E (OABP), member 1; RNase L inhibitor 1; huHP68; ribonuclease 4 inhibitor; ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor

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.

Genomic

NG_047075.1 RefSeqGene

Range

5308..36521

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040876.2 → NP_001035809.1 ATP-binding cassette sub-family E member 1

See identical proteins and their annotated locations for NP_001035809.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC096757, BC016283, DA218189

Consensus CDS

CCDS34071.1

UniProtKB/Swiss-Prot

O88793, P61221, Q13181, Q13864, Q6NR76, Q96AL0, Q96B10, Q99K66

Conserved Domains (1) summary

COG1245
Location:4 → 597

Rli1; Translation initiation factor RLI1, contains Fe-S and AAA+ ATPase domains [Translation, ribosomal structure and biogenesis]
NM_002940.3 → NP_002931.2 ATP-binding cassette sub-family E member 1

See identical proteins and their annotated locations for NP_002931.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC096757, BC016283, DA218189

Consensus CDS

CCDS34071.1

UniProtKB/Swiss-Prot

O88793, P61221, Q13181, Q13864, Q6NR76, Q96AL0, Q96B10, Q99K66

Related

ENSP00000296577.4, ENST00000296577.9

Conserved Domains (1) summary

COG1245
Location:4 → 597

Rli1; Translation initiation factor RLI1, contains Fe-S and AAA+ ATPase domains [Translation, ribosomal structure and biogenesis]