2. Gene
  3. NELL1 - neural EGFL like 1 Gene

NELL1 - neural EGFL like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NRP1; IDH3GL

Gene ID: 4745 | Gene type: protein coding

About NELL1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:20,669,551-21,575,686 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and 1 paralogue. Biased expression in brain (RPKM 7.1), kidney (RPKM 6.6) and 2 other tissues.

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 craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

NELL1 Products(4)

mRNA Protein Name
NM_001288713.1 NP_001275642.1 protein kinase C-binding protein NELL1 isoform 3 precursor
NM_001288714.1 NP_001275643.1 protein kinase C-binding protein NELL1 isoform 4 precursor
NM_006157.5 NP_006148.2 protein kinase C-binding protein NELL1 isoform 1 precursor
NM_201551.2 NP_963845.1 protein kinase C-binding protein NELL1 isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
21723284 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of osteoblast proliferation IDA
IDA: Inferred from direct assay
21723284 GOA
involved in negative regulation of protein catabolic process IDA
IDA: Inferred from direct assay
21723284 GOA
involved in positive regulation of bone mineralization IDA
IDA: Inferred from direct assay
21723284 GOA
involved in positive regulation of osteoblast differentiation IDA
IDA: Inferred from direct assay
21723284 GOA
involved in regulation of gene expression IDA
IDA: Inferred from direct assay
21723284 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
21723284 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
21723284 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
21723284 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NELL1 Protein Structure

Laminin_G_2

Laminin_G_2: Laminin G domain (99 - 196)

VWC

VWC: von Willebrand factor type C domain (273 - 331)

EGF_CA

EGF_CA: Calcium-binding EGF domain (434 - 474)

EGF_3

EGF_3: EGF domain (480 - 515)

hEGF

hEGF: Human growth factor-like EGF (534 - 546)

EGF_CA

EGF_CA: Calcium-binding EGF domain (549 - 582)

EGF_CA

EGF_CA: Calcium-binding EGF domain (596 - 627)

VWC

VWC: von Willebrand factor type C domain (699 - 749)

  • 0
  • 200
  • 400
  • 600
  • 810 a.a.
Protein Preferred Names Protein Names

protein kinase C-binding protein NELL1

nel-related protein 1

NELL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
IF
21723284
Intra
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
Phage Display
21723284
Intra
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
Anti Bait CoIP
21723284
Intra
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
Pull Down
21723284
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis
Achard Syndrome

Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal
Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal
Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2
Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial
Synostosis
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09204 NELL1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NELL1 RGD RGD:620998
Canis familiaris NELL1 VGNC VGNC:43739
Macaca mulatta NELL1 VGNC VGNC:75312
Mus musculus NELL1 MGD MGI:2443902
Felis catus NELL1 VGNC VGNC:81973