Gene Gene information from NCBI Gene database.
Entrez ID 6059
Gene name ATP binding cassette subfamily E member 1
Gene symbol ABCE1
Synonyms (NCBI Gene)
ABC38OABPRLIRLI1RNASEL1RNASELIRNS4I
Chromosome 4
Chromosome location 4q31.21
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, M
miRNA miRNA information provided by mirtarbase database.
437
miRTarBase ID miRNA Experiments Reference
MIRT004713 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004713 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004713 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004713 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT030495 hsa-miR-24-3p Microarray 19748357
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IDA 20122402
GO:0005506 Function Iron ion binding IBA
GO:0005515 Function Protein binding IPI 7539425, 16275648, 25944354, 32296183, 35271311
GO:0005524 Function ATP binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601213 69 ENSG00000164163
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61221
Protein name ATP-binding cassette sub-family E member 1 (EC 3.6.5.-) (2'-5'-oligoadenylate-binding protein) (HuHP68) (RNase L inhibitor) (Ribonuclease 4 inhibitor) (RNS4I)
Protein function Nucleoside-triphosphatase (NTPase) involved in ribosome recycling by mediating ribosome disassembly (PubMed:20122402, PubMed:21448132). Able to hydrolyze ATP, GTP, UTP and CTP (PubMed:20122402). Splits ribosomes into free 60S subunits and tRNA-
PDB 6ZME , 6ZVJ , 7A09
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04068 RLI 6 37 Possible Fer4-like domain in RNase L inhibitor, RLI Family
PF00037 Fer4 48 71 4Fe-4S binding domain Domain
PF00005 ABC_tran 100 245 ABC transporter Domain
PF00005 ABC_tran 362 490 ABC transporter Domain
Sequence
MADKLTRIAIVNHDKCKPKKCRQECKKSCPVVRMGKLCIEVTPQSKIAWISETLCIGCGI
CIKKCPFGALS
IVNLPSNLEKETTHRYCANAFKLHRLPIPRPGEVLGLVGTNGIGKSTAL
KILAGKQKPNLGKYDDPPDWQEILTYFRGSELQNYFTKILEDDLKAIIKPQYVDQIPKAA
KGTVGSILDRKDETKTQAIVCQQLDLTHLKERNVEDLSGGELQRFACAVVCIQKADIFMF
DEPSS
YLDVKQRLKAAITIRSLINPDRYIIVVEHDLSVLDYLSDFICCLYGVPSAYGVVT
MPFSVREGINIFLDGYVPTENLRFRDASLVFKVAETANEEEVKKMCMYKYPGMKKKMGEF
ELAIVAGEFTDSEIMVMLGENGTGKTTFIRMLAGRLKPDEGGEVPVLNVSYKPQKISPKS
TGSVRQLLHEKIRDAYTHPQFVTDVMKPLQIENIIDQEVQTLSGGELQRVALALCLGKPA
DVYLIDEPSA
YLDSEQRLMAARVVKRFILHAKKTAFVVEHDFIMATYLADRVIVFDGVPS
KNTVANSPQTLLAGMNKFLSQLEITFRRDPNNYRPRINKLNSIKDVEQKKSGNYFFLDD
Sequence length 599
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    OAS antiviral response
Interferon alpha/beta signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22267055, 27314749, 29145194
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25070080, 30214553, 30305609, 31007850
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25070080 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31306106 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25070080, 25744244, 26617714, 26733164, 27109616, 27314749, 29145194, 30214518, 30936993, 31306106, 31501431
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 15809757
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms LHGDN 15809757
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer CTD_human_DG 22294766
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms CTD_human_DG 22294766
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies Diabetic cardiomyopathy Pubtator 30246236 Associate
★☆☆☆☆
Found in Text Mining only