Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55140
Gene name Gene Name - the full gene name approved by the HGNC.
Elongator acetyltransferase complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELP3
Synonyms (NCBI Gene) Gene synonyms aliases
KAT9
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031429 hsa-miR-16-5p Proteomics 18668040
MIRT041378 hsa-miR-193b-3p CLASH 23622248
MIRT038216 hsa-miR-342-5p CLASH 23622248
MIRT526162 hsa-miR-5583-3p HITS-CLIP 23313552
MIRT690167 hsa-miR-4293 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0001764 Process Neuron migration ISS
GO:0002098 Process TRNA wobble uridine modification IDA 29415125
GO:0002926 Process TRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA 21873635
GO:0002926 Process TRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation TAS 29332244
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612722 20696 ENSG00000134014
Protein
UniProt ID Q9H9T3
Protein name Elongator complex protein 3 (hELP3) (EC 2.3.1.311) (tRNA uridine(34) acetyltransferase)
Protein function Catalytic tRNA acetyltransferase subunit of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl
PDB 8PTX , 8PTY , 8PTZ , 8PU0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04055 Radical_SAM 96 305 Radical SAM superfamily Domain
PF16199 Radical_SAM_C 312 393 Radical_SAM C-terminal domain Family
PF00583 Acetyltransf_1 398 535 Acetyltransferase (GNAT) family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the cerebellum and spinal motor neurons. {ECO:0000269|PubMed:18996918}.
Sequence
Sequence length 547
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
27811057
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
27811057
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
27811057
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 22470424
Carcinogenesis Associate 32186433
Frontotemporal Dementia Associate 25239657
Hypoxia Stimulate 32186433
Immunologic Deficiency Syndromes Associate 39925840
Melanoma Associate 22854966
Motor Neuron Disease Associate 25239657