ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ABCE1provided by HGNC
Official Full Name: ATP-binding cassette, sub-family E (OABP), member 1provided by HGNC
Primary source: HGNC:69
Locus tag: OK/SW-cl.40
See related: Ensembl:ENSG00000164163; HPRD:03132; MIM:601213; Vega:OTTHUMG00000161478
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; 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]

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Genomic context

Location :: 4q31

Sequence :: Chromosome: 4; NC_000004.11 (146019156..146050676)

See ABCE1 in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Pelota/Hbs1 induced dissociation of elongation complexes from ribosomes and release of peptidyl-tRNA, but only in the presence of ABCE1.
Title: Dissociation by Pelota, Hbs1 and ABCE1 of mammalian vacant 80S ribosomes and stalled elongation complexes.
Results suggest that ABCE1 plays an important role in the pathogenesis of human small cell lung cancer cell.
Title: A small interfering ABCE1-targeting RNA inhibits the proliferation and invasiveness of small cell lung cancer.
NTP hydrolysis by ABCE1 is stimulated by posttermination complexes and is required for its ribosomal recycling activity.
Title: The role of ABCE1 in eukaryotic posttermination ribosomal recycling.
were able to confirm the excess of rare genetic variation among HIV-1-positive African-American individuals (n=53; Tajima's D=-2.34). These results highlight the potential importance of ABCE1's role in infectious diseases such as HIV-1.
Title: An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1.
common variation in the putative prostate cancer susceptibility gene, RNASEL, or its inhibitor does not contribute significantly to prostate cancer risk in Tobago Afro-Caribbean population
Title: RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
The primary role of ABCE-1 in the effect of TULA appears to be the recruitment of TULA to the sites of HIV-1 assembly where TULA interferes with the late steps of the HIV-1 life cycle.
Title: TULA proteins bind to ABCE-1, a host factor of HIV-1 assembly, and inhibit HIV-1 biogenesis in a UBA-dependent fashion.
overexpression in a permissive cell line had no significant effect on varicella zoster virus replication
Title: Varicella-zoster virus does not significantly induce cell defence mechanism mediated by the 2-5A/RNase L pathway during its replication cycle.
ABCE1 and its peptides could be target molecules in specific immunotherapy for HLA-A2(+) colon cancer patients.
Title: ABCE1, a member of ATP-binding cassette transporter gene, encodes peptides capable of inducing HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes in colon cancer patients.
HIV-2 Gag associates with human HP68 in a cell-free system and that Gag proteins of HIV-2, simian immunodeficiency virus SIVmac239, and SIVagm associate with endogenous HP68 in primate cells, as is seen for HIV-1.
Title: Conservation of a stepwise, energy-sensitive pathway involving HP68 for assembly of primate lentivirus capsids in cells.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	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
	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
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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P61221	P10153	RNASE2	HPRD	PubMed
P61221	Q05823	RNASEL	HPRD	PubMed
BioGRID:111986	BioGRID:114214	EIF3F	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111986	BioGRID:114216	EIF3H	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111986	BioGRID:111969	RNASEL	BioGRID	PubMed	Reconstituted Complex
BioGRID:111986	BioGRID:119748	UBASH3A	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:111986	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111986	BioGRID:131884	USP50	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111986	BioGRID:1205537	gag	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase activity	IEA Inferred from Electronic Annotation more info
electron carrier activity	IEA Inferred from Electronic Annotation more info
iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
ribonuclease inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
RNA catabolic process	TAS Traceable Author Statement more info	PubMed
interspecies interaction between organisms	IEA Inferred from Electronic Annotation more info
response to virus	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

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

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NCBI Reference Sequences (RefSeq)

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_001040876.1 → NP_001035809.1 ATP-binding cassette sub-family E member 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

P61221

Conserved Domains (4) summary

COG1245
Location:4 – 597
Blast Score: 2116

COG1245; Predicted ATPase, RNase L inhibitor (RLI) homolog [General function prediction only]

cd03236
Location:78 – 332
Blast Score: 1124

ABC_RNaseL_inhibitor_domain1; The ATPase domain 1 of RNase L inhibitor. The ABC ATPase, RNase L inhibitor (RLI), is a key enzyme in ribosomal biogenesis, formation of translation preinitiation complexes, and assembly of HIV capsids. RLI s are not transport proteins and thus cluster ...

cd03237
Location:359 – 592
Blast Score: 993

ABC_RNaseL_inhibitor_domain2; The ATPase domain 2 of RNase L inhibitor. The ABC ATPase, RNase L inhibitor (RLI), is a key enzyme in ribosomal biogenesis, formation of translation preinitiation complexes, and assembly of HIV capsids. RLI's are not transport proteins and thus cluster ...

pfam04068
Location:6 – 37
Blast Score: 128

RLI; Possible Fer4-like domain in RNase L inhibitor, RLI
NM_002940.2 → NP_002931.2 ATP-binding cassette sub-family E member 1

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

P61221

Related

ENSP00000296577, OTTHUMP00000220305, ENST00000296577, OTTHUMT00000365104

Conserved Domains (4) summary

COG1245
Location:4 – 597
Blast Score: 2116

COG1245; Predicted ATPase, RNase L inhibitor (RLI) homolog [General function prediction only]

cd03236
Location:78 – 332
Blast Score: 1124

ABC_RNaseL_inhibitor_domain1; The ATPase domain 1 of RNase L inhibitor. The ABC ATPase, RNase L inhibitor (RLI), is a key enzyme in ribosomal biogenesis, formation of translation preinitiation complexes, and assembly of HIV capsids. RLI s are not transport proteins and thus cluster ...

cd03237
Location:359 – 592
Blast Score: 993

ABC_RNaseL_inhibitor_domain2; The ATPase domain 2 of RNase L inhibitor. The ABC ATPase, RNase L inhibitor (RLI), is a key enzyme in ribosomal biogenesis, formation of translation preinitiation complexes, and assembly of HIV capsids. RLI's are not transport proteins and thus cluster ...

pfam04068
Location:6 – 37
Blast Score: 128

RLI; Possible Fer4-like domain in RNase L inhibitor, RLI

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

146019156..146050676

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

141750477..141781999

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC096757.3 (65303..96499)	None
genomic	CH471056.2	EAX05049.1
genomic	DQ148409.1	AAZ38723.1
genomic	L24115.1	None
mRNA	AB062293.1	BAB93476.1
mRNA	AK315198.1	None
mRNA	BC016283.1	AAH16283.1
mRNA	BC016988.1	AAH16988.1
mRNA	BT009779.1	AAP88781.1
mRNA	DA218189.1	None
mRNA	X74987.1	CAA52920.1
mRNA	X76388.1	CAA53972.1