Gene: ELAVL1

Basic information

Tag Content
Uniprot ID Q15717; B4DVB8; Q53XN6; Q9BTT1;
Entrez ID 1994
Genbank protein ID AAH03376.1; AAP88795.1; EAW68949.1; BAG62630.1; AAB41913.1;
Genbank nucleotide ID NM_001419.2
Ensembl protein ID ENSP00000385269; ENSP00000472197;
Ensembl nucleotide ID ENSG00000066044
Gene name ELAV-like protein 1
Gene symbol ELAVL1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description RNA-binding protein that binds to the 3'-UTR region of mRNAs and increases their stability (PubMed:14517288, PubMed:18285462, PubMed:31358969). Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:8626503, PubMed:17632515, PubMed:18285462, PubMed:23519412, PubMed:14731398). Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUUA motifs. Binds preferentially to the 5'-UUUU[AG]UUU-3' motif in vitro (PubMed:8626503). With ZNF385A, binds the 3'-UTR of p53/TP53 mRNA to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind with ZNF385A the CCNB1 mRNA (By similarity). Increases the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR (PubMed:29180010).
Sequence
MSNGYEDHMA EDCRGDIGRT NLIVNYLPQN MTQDELRSLF SSIGEVESAK LIRDKVAGHS 60
LGYGFVNYVT AKDAERAINT LNGLRLQSKT IKVSYARPSS EVIKDANLYI SGLPRTMTQK 120
DVEDMFSRFG RIINSRVLVD QTTGLSRGVA FIRFDKRSEA EEAITSFNGH KPPGSSEPIT 180
VKFAANPNQN KNVALLSQLY HSPARRFGGP VHHQAQRFRF SPMGVDHMSG LSGVNVPGNA 240
SSGWCIFIYN LGQDADEGIL WQMFGPFGAV TNVKVIRDFN TNKCKGFGFV TMTNYEEAAM 300
AIASLNGYRL GDKILQVSFK TNKSHK 326

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologELAVL1617316Q3ZCE2Bos taurusPredictionMore>>
1:1 orthologELAVL1102173732A0A452EKQ9Capra hircusPredictionMore>>
1:1 orthologELAVL1F6VTW3Equus caballusPredictionMore>>
1:1 orthologELAVL11994Q15717Homo sapiensPredictionMore>>
1:1 orthologElavl115568P70372CPOMus musculusPublicationMore>>
1:1 orthologELAVL1743010K7D3Q8Pan troglodytesPredictionMore>>
1:1 orthologELAVL1100337681D3K5N7Sus scrofaPredictionMore>>
1:1 orthologElavl1363854B5DF91Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003723 RNA bindingIDA
GO:0003723 RNA bindingHDA
GO:0003725 double-stranded RNA bindingIDA
GO:0003729 mRNA bindingTAS
GO:0003730 mRNA 3'-UTR bindingISS
GO:0003730 mRNA 3'-UTR bindingIDA
GO:0005515 protein bindingIPI
GO:0017091 AU-rich element bindingIDA
GO:0019901 protein kinase bindingIPI
GO:0035198 miRNA bindingIDA
GO:0035925 mRNA 3'-UTR AU-rich region bindingIDA
GO:0042803 protein homodimerization activityIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000398 mRNA splicing, via spliceosomeTAS
GO:0006606 protein import into nucleusIEA
GO:0043488 regulation of mRNA stabilityTAS
GO:0045727 positive regulation of translationIDA
GO:0048255 mRNA stabilizationIMP
GO:0048255 mRNA stabilizationIDA
GO:0051260 protein homooligomerizationIDA
GO:0060965 negative regulation of gene silencing by miRNAIMP
GO:0060965 negative regulation of gene silencing by miRNAIGI
GO:0070935 3'-UTR-mediated mRNA stabilizationIDA
GO:0070935 3'-UTR-mediated mRNA stabilizationIMP
GO:2000036 regulation of stem cell population maintenanceISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA
GO:0005783 endoplasmic reticulumIEA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0010494 cytoplasmic stress granuleISS
GO:0016020 membraneHDA
GO:0098794 postsynapseIEA
GO:0098978 glutamatergic synapseIEA
GO:1990904 ribonucleoprotein complexISS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-450520 HuR (ELAVL1) binds and stabilizes mRNATAS
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elementsTAS
R-HSA-72163 mRNA Splicing - Major PathwayTAS
R-HSA-72172 mRNA SplicingTAS
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNATAS
R-HSA-8953854 Metabolism of RNATAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-1017 Isopeptide bond
KW-0488 Methylation
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0694 RNA-binding
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR006548 ELAD_HU_SF
IPR034775 ELAV/Hu_RRM1
IPR002343 Hud_Sxl_RNA
IPR034996 HuR_RRM2
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom

PROSITE

PROSITE ID PROSITE Term
PS50102 RRM

Pfam

Pfam ID Pfam Term
PF00076 RRM_1

Protein-protein interaction

Protein-miRNA interaction