Gene Gene information from NCBI Gene database.
Entrez ID 1984
Gene name Eukaryotic translation initiation factor 5A
Gene symbol EIF5A
Synonyms (NCBI Gene)
EIF-5AEIF5A1FABASeIF-4DeIF5AI
Chromosome 17
Chromosome location 17p13.1
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT050318 hsa-miR-25-3p CLASH 23622248
MIRT048616 hsa-miR-99a-5p CLASH 23622248
MIRT048525 hsa-miR-100-5p CLASH 23622248
MIRT047232 hsa-miR-181b-5p CLASH 23622248
MIRT042623 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IDA 15303967
GO:0003723 Function RNA binding IEA
GO:0003746 Function Translation elongation factor activity IBA
GO:0003746 Function Translation elongation factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600187 3300 ENSG00000132507
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P63241
Protein name Eukaryotic translation initiation factor 5A-1 (eIF-5A-1) (eIF-5A1) (Eukaryotic initiation factor 5A isoform 1) (eIF-5A) (Rev-binding factor) (eIF-4D)
Protein function Translation factor that promotes translation elongation and termination, particularly upon ribosome stalling at specific amino acid sequence contexts (PubMed:33547280). Binds between the exit (E) and peptidyl (P) site of the ribosome and promote
PDB 3CPF , 5DLQ , 8A0E , 8Y0W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01287 eIF-5a 83 150 Eukaryotic elongation factor 5A hypusine, DNA-binding OB fold Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in umbilical vein endothelial cells and several cancer cell lines (at protein level). {ECO:0000269|PubMed:16519677}.
Sequence
MADDLDFETGDAGASATFPMQCSALRKNGFVVLKGRPCKIVEMSTSKTGKHGHAKVHLVG
IDIFTGKKYEDICPSTHNMDVPNIKRNDFQLIGIQDGYLSLLQDSGEVREDLRLPEGDLG
KEIEQKYDCGEEILITVLSAMTEEAAVAIK
AMAK
Sequence length 154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hypusine synthesis from eIF5A-lysine
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Faundes-Banka syndrome Pathogenic; Likely pathogenic rs2143008762, rs2143009613, rs2143009611, rs2508673713 RCV001509560
RCV001509561
RCV001509562
RCV001509563
RCV003110193
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2143008740 RCV001374964
★★★★☆
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EIF5A-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations