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... See more...

Aliases for ABCE1 Gene

Aliases for ABCE1 Gene

  • ATP Binding Cassette Subfamily E Member 1 2 3 5
  • RLI 2 3 4
  • ATP-Binding Cassette, Sub-Family E (OABP), Member 1 2 3
  • ATP-Binding Cassette Sub-Family E Member 1 3 4
  • 2'-5'-Oligoadenylate-Binding Protein 3 4
  • Ribonuclease 4 Inhibitor 3 4
  • RNase L Inhibitor 1 2 3
  • RNASEL1 3 4
  • RNASELI 3 4
  • HuHP68 3 4
  • RNS4I 3 4
  • OABP 2 3
  • RLI1 2 3
  • Ribonuclease L (2',5'-Oligoisoadenylate Synthetase-Dependent) Inhibitor 3
  • RNase L Inhibitor 4
  • ABC38 3
  • ABCE1 5

External Ids for ABCE1 Gene

Previous HGNC Symbols for ABCE1 Gene

  • RNASEL1
  • RNASELI
  • RNS4I

Previous GeneCards Identifiers for ABCE1 Gene

  • GC04P146819
  • GC04P146391
  • GC04P146597
  • GC04P146377
  • GC04P146238
  • GC04P146019
  • GC04P141750

Summaries for ABCE1 Gene

Entrez Gene Summary for ABCE1 Gene

  • 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]

GeneCards Summary for ABCE1 Gene

ABCE1 (ATP Binding Cassette Subfamily E Member 1) is a Protein Coding gene. Diseases associated with ABCE1 include Abcd Syndrome and Noonan Syndrome 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include ATPase activity and ribonuclease inhibitor activity.

UniProtKB/Swiss-Prot Summary for ABCE1 Gene

  • Antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCE1 Gene

Genomics for ABCE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCE1

Top Transcription factor binding sites by QIAGEN in the ABCE1 gene promoter:
  • AML1a
  • Cart-1
  • E2F
  • E2F-1
  • E2F-2
  • LCR-F1
  • MRF-2
  • Pbx1a

Genomic Locations for ABCE1 Gene

Genomic Locations for ABCE1 Gene
chr4:145,098,288-145,129,524
(GRCh38/hg38)
Size:
31,237 bases
Orientation:
Plus strand
chr4:146,019,084-146,050,676
(GRCh37/hg19)
Size:
31,593 bases
Orientation:
Plus strand

Genomic View for ABCE1 Gene

Genes around ABCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCE1 Gene

Proteins for ABCE1 Gene

  • Protein details for ABCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61221-ABCE1_HUMAN
    Recommended name:
    ATP-binding cassette sub-family E member 1
    Protein Accession:
    P61221
    Secondary Accessions:
    • O88793
    • Q13181
    • Q13864
    • Q6NR76
    • Q96AL0
    • Q96B10
    • Q99K66

    Protein attributes for ABCE1 Gene

    Size:
    599 amino acids
    Molecular mass:
    67314 Da
    Quaternary structure:
    • Probably heterodimerizes with RNASEL; this interaction inhibits the RNASEL.
    • (Microbial infection) Interacts with HIV-1 proteins Vif and Gag.
    • (Microbial infection) Interacts with HIV-2 protein Gag.
    Miscellaneous:
    • The ABC transporter domains seem not to be functional.

neXtProt entry for ABCE1 Gene

Post-translational modifications for ABCE1 Gene

  • Ubiquitination at Lys36, Lys64, Lys81, Lys93, Lys116, Lys121, Lys128, Lys158, Lys165, Lys169, Lys181, Lys191, Lys210, Lys250, Lys254, Lys332, Lys343, Lys447, Lys478, and Lys579
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCE1 Gene

No data available for DME Specific Peptides for ABCE1 Gene

Domains & Families for ABCE1 Gene

Gene Families for ABCE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABCE1 Gene

InterPro:
Blocks:
  • Possible metal-binding region in RNase L inhibitor, RLI
  • ABC transporter family E signature
ProtoNet:

Suggested Antigen Peptide Sequences for ABCE1 Gene

GenScript: Design optimal peptide antigens:
  • Ribonuclease 4 inhibitor (ABCE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61221

UniProtKB/Swiss-Prot:

ABCE1_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCE family.
Family:
  • Belongs to the ABC transporter superfamily. ABCE family.
genes like me logo Genes that share domains with ABCE1: view

Function for ABCE1 Gene

Molecular function for ABCE1 Gene

UniProtKB/Swiss-Prot Function:
Antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly.
UniProtKB/Swiss-Prot Induction:
Activated by encephalomyocarditis virus (EMCV) and HIV-1.
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamilyE (OABP),member 1,ubiquitously expressed

Phenotypes From GWAS Catalog for ABCE1 Gene

Gene Ontology (GO) - Molecular Function for ABCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005506 iron ion binding IBA 21873635
GO:0005515 protein binding IPI 7539425
GO:0005524 ATP binding IEA,IBA 21873635
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCE1: view
genes like me logo Genes that share phenotypes with ABCE1: view

Animal Models for ABCE1 Gene

MGI Knock Outs for ABCE1:
  • Abce1 Abce1<tm1.1(KOMP)Vlcg>
  • Abce1 Abce1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCE1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCE1 Gene

Localization for ABCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCE1 Gene

Cytoplasm. Mitochondrion. Note=Localized to clusters of virus formation at the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCE1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11585831
GO:0005739 mitochondrion IEA,IDA 11585831
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with ABCE1: view

Pathways & Interactions for ABCE1 Gene

genes like me logo Genes that share pathways with ABCE1: view

Pathways by source for ABCE1 Gene

Gene Ontology (GO) - Biological Process for ABCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000054 ribosomal subunit export from nucleus IBA 21873635
GO:0006413 translational initiation IBA 21873635
GO:0006415 translational termination IBA 21873635
GO:0016032 viral process IEA --
GO:0051607 defense response to virus TAS --
genes like me logo Genes that share ontologies with ABCE1: view

No data available for SIGNOR curated interactions for ABCE1 Gene

Drugs & Compounds for ABCE1 Gene

No Compound Related Data Available

Transcripts for ABCE1 Gene

mRNA/cDNA for ABCE1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCE1

Alternative Splicing Database (ASD) splice patterns (SP) for ABCE1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18
SP1: - - - - -
SP2:
SP3: -
SP4: - - -
SP5: - - - - - - - - - -
SP6: -
SP7: - - -
SP8:

Relevant External Links for ABCE1 Gene

GeneLoc Exon Structure for
ABCE1

Expression for ABCE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCE1 Gene

Protein differential expression in normal tissues from HIPED for ABCE1 Gene

This gene is overexpressed in Nasal epithelium (7.5) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCE1 Gene



Protein tissue co-expression partners for ABCE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCE1

SOURCE GeneReport for Unigene cluster for ABCE1 Gene:

Hs.12013

Evidence on tissue expression from TISSUES for ABCE1 Gene

  • Nervous system(4.6)
  • Intestine(4.5)
  • Kidney(2.7)
  • Liver(2.7)
  • Blood(2.6)
  • Skin(2.5)
  • Heart(2.4)
  • Spleen(2.4)
  • Muscle(2.2)
  • Lymph node(2.2)
  • Lung(2.1)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with ABCE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCE1 Gene

Orthologs for ABCE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABCE1 30 31
  • 99.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCE1 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABCE1 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCE1 30 31
  • 95.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCE1 30 31
  • 94.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abce1 30 17 31
  • 93.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abce1 30
  • 91.43 (n)
Chicken
(Gallus gallus)
Aves ABCE1 30 31
  • 85.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABCE1 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abce1 30
  • 79.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii abce1 30 31
  • 75.35 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5651 32
  • 76 (a)
pix 30 31
  • 66.05 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002182 30
  • 63.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y39E4B.1 32
  • 65 (a)
abce-1 30 31
  • 61.93 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17556g 30
  • 64.88 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLI1 30 31 33
  • 64.5 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR125W 30
  • 62.48 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RLI2 30
  • 67.61 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0546000 30
  • 68.22 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 79 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rli1 30
  • 62.15 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03061 30
  • 61.93 (n)
Species where no ortholog for ABCE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABCE1 Gene

ENSEMBL:
Gene Tree for ABCE1 (if available)
TreeFam:
Gene Tree for ABCE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCE1: view image

Paralogs for ABCE1 Gene

Pseudogenes.org Pseudogenes for ABCE1 Gene

genes like me logo Genes that share paralogs with ABCE1: view

No data available for Paralogs for ABCE1 Gene

Variants for ABCE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCE1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
709737 Benign: not provided 145,110,451(+) G/T INTRON_VARIANT
714248 Benign: not provided 145,112,254(+) G/A SYNONYMOUS_VARIANT
769637 Benign: not provided 145,123,265(+) C/T SYNONYMOUS_VARIANT
787280 Benign: not provided 145,109,174(+) A/T SYNONYMOUS_VARIANT
rs193920849 Uncertain Significance: Malignant tumor of prostate 145,111,062(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ABCE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABCE1 Gene

Variant ID Type Subtype PubMed ID
nsv966325 CNV duplication 23825009

Variation tolerance for ABCE1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCE1 Gene

Human Gene Mutation Database (HGMD)
ABCE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCE1 Gene

Disorders for ABCE1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ABCE1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ABCE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ABCE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCE1 Gene

Publications for ABCE1 Gene

  1. Cloning and characterization of a RNAse L inhibitor. A new component of the interferon-regulated 2-5A pathway. (PMID: 7539425) Bisbal C … Salehzada T (The Journal of biological chemistry 1995) 2 3 4
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41
  3. RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans. (PMID: 18189233) Shea PR … Ferrell RE (The Prostate 2008) 3 41
  4. Basic residues in the nucleocapsid domain of Gag are required for interaction of HIV-1 gag with ABCE1 (HP68), a cellular protein important for HIV-1 capsid assembly. (PMID: 16275648) Lingappa JR … Klein KC (The Journal of biological chemistry 2006) 3 23
  5. 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. (PMID: 15809757) Shichijo S … Itoh K (Oncology reports 2005) 3 23

Products for ABCE1 Gene

  • Signalway Proteins for ABCE1

Sources for ABCE1 Gene