NELL1 (neural EGFL like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4745
Gene name Neural EGFL like 1
Gene symbol NELL1
Synonyms (NCBI Gene)
IDH3GLNRP1
Chromosome 11
Chromosome location 11p15.1
Summary This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosi
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT1180519 hsa-miR-1302 CLIP-seq
MIRT1180520 hsa-miR-224 CLIP-seq
MIRT1180521 hsa-miR-4298 CLIP-seq
MIRT1180522 hsa-miR-4696 CLIP-seq
MIRT1180523 hsa-miR-4742-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0005080 Function Protein kinase C binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 21723284, 32198364, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602319 7750 ENSG00000165973
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92832
Protein name Protein kinase C-binding protein NELL1 (NEL-like protein 1) (Nel-related protein 1)
Protein function Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.
PDB 6POL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 273 → 331 von Willebrand factor type C domain Family
PF07645 EGF_CA 434 → 474 Calcium-binding EGF domain Domain
PF12947 EGF_3 480 → 515 EGF domain Domain
PF12662 cEGF 572 → 599 Complement Clr-like EGF-like Domain
PF00093 VWC 694 → 749 von Willebrand factor type C domain Family
Sequence 
MPMDLILVVWFCVCTARTVVGFGMDPDLQMDIVTELDLVNTTLGVAQVSGMHNASKAFLF
QDIEREIHAAPHVSEKLIQLFRNKSEFTILATVQQKPSTSGVILSIRELEHSYFELESSG
LRDEIRYHYIHNGKPRTEALPYRMADGQWHKVALSVSASHLLLHVDCNRIYERVIDPPDT
NLPPGINLWLGQRNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNHTCPTCSDFLSLVQGI
MDLQELLAKMTAKLNYAETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHCRNCTCKSG
AVECRRMSCPPLNCSPDSLPVHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCRECRGGV
LVKITEMCPPLNCSEKDHILPENQCCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKS
GYISVQGDSAYCEDIDECAAKMHYCHANTVCVNLPGLYRCDCVPGYIRVDDFSCTEHDEC
GSGQHNCDENAICTNTVQGHSCTCKPGYVGNGTICRAFCEEGCRYGGTCVAPNKCVCPSG
FTGSHCEKDIDECSEGIIECHNHSRCVNLPGWYHCECRSGFHDDGTYSLSGESCIDIDEC
ALRTHTCWNDSACINLAGGFDCLCPSGPSCSGDCPHEGGLKHNGQVWTLKEDRCSVCSCK
DGKIFCRRTACDCQNPSADLFCCPECDTRVTSQCLDQNGHKLYRSGDNWTHSCQQCRCLE
GEVDCWPLTCPNLSCEYTAILEGECCPRCVSDPCLADNITYDIRKTCLDSYGVSRLSGSV
WTMAGSPCTTCKCKNGRVCCSVDFECLQNN
Sequence length 810
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (17)
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
CRANIOSYNOSTOSES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (116)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrocephaly Acrocephaly CTD_human_DG 14672347
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 30378769
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 21978468
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 15161648
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 17452981
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer CTD_human_DG 17452981
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17376520
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 20572039
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 21978468
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 30299251
★★★★★
★☆☆☆☆
Found in Text Mining only