NELL1 (neural EGFL like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4745
Gene name Gene Name - the full gene name approved by the HGNC.
Neural EGFL like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NELL1
Synonyms (NCBI Gene) Gene synonyms aliases
IDH3GL, NRP1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602319 7750 ENSG00000165973
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Associate 30299251
Astrocytoma Associate 11803583
Barrett Esophagus Associate 30670490
Bone Diseases Metabolic Associate 29266176
Carcinogenesis Associate 30091681
Carcinoma Renal Cell Associate 25726761
Cardiomyopathies Associate 39267096
Cardiomyopathy Hypertrophic Associate 39267096
Cognition Disorders Associate 38306043
Colitis Ulcerative Associate 17684544