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ABCE1 Gene

protein-coding   GIFtS: 59
GCID: GC04P146019

ATP-Binding Cassette, Sub-Family E (OABP), Member 1


(Previous symbols: RNASEL1, RNASELI, RNS4I)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family E (OABP), Member 11 2     RNase L Inhibitor2 3
RNASELI1 2 3 5     ABC382
RNS4I1 2 3 5     OABP2
RNASEL11 2 3     ATP-Binding Cassette Sub-Family E Member 12
Ribonuclease 4 Inhibitor2 3     huHP682
2'-5'-Oligoadenylate-Binding Protein2 3     Ribonuclease L (2',5'-Oligoisoadenylate Synthetase-Dependent) Inhibitor2
RLI2 3     HuHP683

External Ids:    HGNC: 691   Entrez Gene: 60592   Ensembl: ENSG000001641637   OMIM: 6012135   UniProtKB: P612213   

Export aliases for ABCE1 gene to outside databases

Previous GC identifers: GC04P146819 GC04P146391 GC04P146597 GC04P146377 GC04P146238 GC04P141750


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, sub-family E (OABP), member 1) is a protein-coding gene. Diseases associated with ABCE1 include median neuropathy, and ulnar neuropathy. GO annotations related to this gene include electron carrier activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot: ABCE1_HUMAN, P61221
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCE1 gene promoter:
         E2F-1   E2F   Pbx1a   AML1a   Cart-1   E2F-2   LCR-F1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCE1 promoter sequence
   Search Chromatin IP Primers for ABCE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31

ABCE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCE1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P146019:  view genomic region     (about GC identifiers)

Start:
146,019,084 bp from pter      End:
146,050,676 bp from pter
Size:
31,593 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCE1_HUMAN, P61221 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family E member 1  
Size: 599 amino acids; 67314 Da
Subunit: Probably heterodimerizes with RNASEL; this interaction inhibits the RNASEL. Associates with HIV-1 Vif and
HIV-1, HIV-2 and SIV Gag proteins
Miscellaneous: The ABC transporter domains seem not to be functional
Secondary accessions: O88793 Q13181 Q13864 Q6NR76 Q96AL0 Q96B10 Q99K66

Explore the universe of human proteins at neXtProt for ABCE1: NX_P61221

Explore proteomics data for ABCE1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys36, Lys64, Lys81, Lys93, Lys116, Lys121, Lys128, Lys158, Lys165, Lys169,
                                 Lys181, Lys191, Lys210, Lys250, Lys254, Lys332, Lys343, Lys447, Lys478, Lys579
  • Modification sites at PhosphoSitePlus

  • See ABCE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035809.1  NP_002931.2  

    ENSEMBL proteins: 
     ENSP00000296577   ENSP00000421250   ENSP00000422068   ENSP00000423415  

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    Novus Biologicals ABCE1 Proteins
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    ABCE1 Assay Products:

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    Cloud-Clone Corp. CLIAs for ABCE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCE: ATP binding cassette transporters / subfamily E

    Selected InterPro protein domains (see all 9):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001450 4Fe4S-bd_dom
     IPR003593 AAA+_ATPase
     IPR017896 4Fe4S_Fe-S-bd

    Graphical View of Domain Structure for InterPro Entry P61221

    ProtoNet protein and cluster: P61221

    2 Blocks protein domains:
    IPB007209 Possible metal-binding region in RNase L inhibitor
    IPB013283 ABC transporter family E signature


    UniProtKB/Swiss-Prot: ABCE1_HUMAN, P61221
    Similarity: Belongs to the ABC transporter superfamily. ABCE family
    Similarity: Contains 2 4Fe-4S ferredoxin-type domains
    Similarity: Contains 2 ABC transporter domains


    ABCE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCE1_HUMAN, P61221
    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
    Induction: Activated by encephalomyocarditis virus (EMCV) and HIV-1

         Genatlas biochemistry entry for ABCE1:
    ATP binding cassette superfamily,subfamilyE (OABP),member 1,ubiquitously expressed

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0008428ribonuclease inhibitor activity TAS7539425
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCE1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ABCE1:
     Increased S DNA content  Nuclear 60S biogenesis defects  Nucleolar pre-40S maturation d 

         1 MGI phenotypic allele for Abce1 (no phenotypes)

    ABCE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCE1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCE1
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    miRNA
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    miRTarBase miRNAs that target ABCE1:
    hsa-mir-30c-5p (MIRT047854), hsa-mir-203a (MIRT004713), hsa-mir-24-3p (MIRT030495)

    Block miRNA regulation of human, mouse, rat ABCE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCE1 (see all 54):
    hsa-miR-579 hsa-miR-3152-3p hsa-miR-29a hsa-miR-200a hsa-miR-301a hsa-miR-374a hsa-miR-519a hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidABCE1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCE1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ABCE1 (NM_001040876)
    Sino Biological Human cDNA Clone for ABCE1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCE1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCE1_HUMAN, P61221: Cytoplasm. Mitochondrion. Note=Localized to clusters of virus formation at the plasma
    membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11585831
    GO:0005739mitochondrion IDA11585831

    ABCE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCE1
    Interactions:

        GeneGlobe Interaction Network for ABCE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCE1 (P612213 ENSP000002965774) via UniProtKB, MINT, STRING, and/or I2D (see all 192)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3HO153723, ENSP000002766824I2D: score=2 STRING: ENSP00000276682
    RNASE2P101533, ENSP000003032764I2D: score=2 STRING: ENSP00000303276
    EIF3FO003033, ENSP000003100404I2D: score=1 STRING: ENSP00000310040
    RNASELQ058233, ENSP000003565304I2D: score=2 STRING: ENSP00000356530
    UBASH3AP570753, ENSP000003173274I2D: score=1 STRING: ENSP00000317327
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006401RNA catabolic process TAS7539425
    GO:0009615response to virus TAS7539425
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0043086negative regulation of catalytic activity TAS7539425

    ABCE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCE1

    1 DrugBank Compound for ABCE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCE1 gene (2 alternative transcripts): 
    NM_001040876.1  NM_002940.2  

    Unigene Cluster for ABCE1:

    ATP-binding cassette, sub-family E (OABP), member 1
    Hs.12013  [show with all ESTs]
    Unigene Representative Sequence: NM_002940
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296577(uc003ijx.3 uc003ijy.3 uc010iot.3) ENST00000502586
    ENST00000502803 ENST00000507193 ENST00000506506 ENST00000504292 ENST00000515678
    ENST00000509593 ENST00000510321 ENST00000504683
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABCE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCE1 (see all 54):
    hsa-miR-579 hsa-miR-3152-3p hsa-miR-29a hsa-miR-200a hsa-miR-301a hsa-miR-374a hsa-miR-519a hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidABCE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ABCE1
    Predesigned siRNA for gene silencing in human, mouse, rat ABCE1
    Clone
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    OriGene ORF clones in mouse, rat for ABCE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABCE1 (NM_001040876)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCE1
    Primer
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    OriGene qPCR primer pairs and template standards for ABCE1
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCE1
      QuantiTect SYBR Green Assays in human, mouse, rat ABCE1
      QuantiFast Probe-based Assays in human, mouse, rat ABCE1

    Additional mRNA sequence: 

    AB062293.1 AK123593.1 AK315198.1 BC016283.1 BC016988.1 BT009779.1 X74987.1 X76388.1 

    13 DOTS entries:

    DT.448327  DT.92453076  DT.101977083  DT.95306496  DT.121341907  DT.100800662  DT.100800665  DT.99981971 
    DT.121275165  DT.121427773  DT.95306494  DT.121275160  DT.99928359 

    Selected AceView cDNA sequences (see all 351):

    Z40110 CA430799 BI495010 BM803662 BM680228 BT009779 BQ025291 BM560736 
    AI205870 AI478885 BP337846 CB305393 BX507351 BU150376 AW967463 CR620765 
    AI669521 AW779039 AI564670 AA333279 BX459627 AI919038 BU189552 BU686342 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCE1 (see all 8)    About this scheme

    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:                          -     -     -     -     -     -     -     -     -           -                                                               


    ECgene alternative splicing isoforms for ABCE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABCE1 Expression
    About this image


    ABCE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ABCE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12013
        Custom PCR Arrays for ABCE1
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    QuantiFast Probe-based Assays in human, mouse, rat ABCE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCE1 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abce11 , 5 ATP-binding cassette, sub-family E (OABP), member 11, 5 93.04(n)1
    100(a)1
      8 (37.77 cM)5
    240151  NM_015751.21  NP_056566.21 
     796834425 
    chicken
    (Gallus gallus)
    Aves ABCE11 ATP-binding cassette, sub-family E (OABP), member 1 85.87(n)
    98.83(a)
      422462  NM_001006440.1  NP_001006440.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCE16
    ATP-binding cassette, sub-family E (OABP), member ...
    97(a)
    1 ↔ 1
    5(117947336-117960725)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046573.12   -- 80.04(n)    BC046573.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY391404.12   -- 77.91(n)    AY391404.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56513
    pix1
    ribonuclease inhibitor3
    pixie1
    76(a)3
    66.05(n)1
    77.26(a)1
      66E53
    390271  NM_168306.21  NP_729435.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39E4B.13
    abce-11
    abce-11 65(a)3
    61.93(n)1
    67.34(a)1
      III(13225073-13227795)3
    1767331  NM_067316.41  NP_499717.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RLI1(YDR091C)4
    RLI11
    Essential iron-sulfur protein required for ribosome more4
    RLI11
    64.5(n)1
    69.28(a)1
      4(628534-626708)4
    8516651, 4  NP_010376.31  NP_010376.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RLI21 RLI2 67.61(n)
    76.13(a)
      827661  NM_118041.4  NP_193656.2 
    rice
    (Oryza sativa)
    Liliopsida AK102362.12   -- 76.33(n)    AK102362.1 


    ENSEMBL Gene Tree for ABCE1 (if available)
    TreeFam Gene Tree for ABCE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCE1 gene

    ABCE1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ABCE1
    PGOHUM00000244380 PGOHUM00000251144 PGOHUM00000232615


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCE1 (see all 532)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925990851,2
    --146021782(+) CATCTA/GATTTC 2 -- int10--------
    rs2008504591,2
    --146021900(+) AATGA-/TTTTTT 2 -- int10--------
    rs1845265681,2
    --146022079(+) CCACTA/GGAATG 2 -- int10--------
    rs357735881,2
    C--146022127(+) TCTACT/CTGGGG 2 -- int12Minor allele frequency- C:0.01NS 82
    rs355161351,2
    C,F--146022186(+) ACCCAC/TGATAG 2 -- int15Minor allele frequency- T:0.03NS NA CSA WA 206
    rs1475119091,2
    --146022213(+) CAGATA/TTATAT 2 -- int10--------
    rs2011795561,2
    C--146022219(+) TATAT-/AAAAAA 2 -- int10--------
    rs347872151,2
    F--146022224(+) AAAAA-/AAATAT 2 -- int12Minor allele frequency- A:0.05NS 94
    rs354070261,2
    F--146022225(+) AAAAAA/TATATA 2 -- int12Minor allele frequency- T:0.11NS 94
    rs1440262001,2
    C--146022225(+) AAAAA-/TATATA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ABCE1 (146019084 - 146050676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ABCE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5779n71CNV Loss21882294
    nsv880234CNV Loss21882294
    nsv880236CNV Loss21882294
    nsv880235CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCE1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601213    OMIM disorders: --

    15 diseases for ABCE1:    
    About MalaCards
    median neuropathy    ulnar neuropathy    hiv-1    lung adenocarcinoma
    neuropathy    tonsillitis    pneumonia    adenocarcinoma
    prostatitis    lung cancer    prostate cancer    malaria
    thyroiditis    cerebritis    endotheliitis


    ABCE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABCE1
    Human Genome Epidemiology (HuGE) Navigator: ABCE1 (2 documents)

    Export disorders for ABCE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCE1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with ABCE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a RNase L inhibitor. A new component of the interferon-regulated 2-5A pathway. (PubMed id 7539425)1, 2, 3 Bisbal C.... Salehzada T. (J. Biol. Chem. 1995)
    2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    3. RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans. (PubMed id 18189233)1, 4 Shea P.R....Ferrell R.E. (Prostate 2008)
    4. Conservation of a stepwise, energy-sensitive pathway involving HP68 for assembly of primate lentivirus capsids in cells. (PubMed id 14747530)1, 2 Dooher J.E. and Lingappa J.R. (J. Virol. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Identification of a host protein essential for assembly of immature HIV-1 capsids. (PubMed id 11780123)1, 2 Zimmerman C.... Lingappa J.R. (Nature 2002)
    7. The 2-5A/RNase L/RNase L inhibitor (RNI) pathway regulates mitochondrial mRNAs stability in interferon alpha-treated H9 cells. (PubMed id 11585831)1, 2 Le Roy F....Salehzada T. (J. Biol. Chem. 2001)
    8. RNase L inhibitor is induced during human immunodeficiency virus type 1 infection and down regulates the 2-5A/RNase L pathway in human T cells. (PubMed id 9847332)1, 2 Martinand C....Bisbal C. (J. Virol. 1999)
    9. RNase L inhibitor (RLI) antisense constructions block partially the down regulation of the 2-5A/RNase L pathway in encephalomyocarditis- virus-(EMCV)-infected cells. (PubMed id 9660177)1, 2 Martinand C.... Bisbal C. (Eur. J. Biochem. 1998)
    10. Chromosomal localization and expression pattern of the RNase L inhibitor gene. (PubMed id 8641422)1, 2 Aubry F.... Galibert F. (FEBS Lett. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6059 HGNC: 69 AceView: ABCE1 Ensembl:ENSG00000164163 euGenes: HUgn6059
    ECgene: ABCE1 H-InvDB: ABCE1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCE1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/abce1/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P61221

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCE1 gene:
    Search GeneIP for patents involving ABCE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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