NELL1 - neural EGFL like 1 Gene
Also Known as NRP1; IDH3GL
Species: Homo sapiens
About NELL1
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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21723284 | GOA |
| Biological Process GO Annotation | Evidence | References | 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 | References | 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 |
NELL1 Protein Structure
Laminin_G_2: Laminin G domain (99 - 196)
VWC: von Willebrand factor type C domain (273 - 331)
EGF_CA: Calcium-binding EGF domain (434 - 474)
EGF_3: EGF domain (480 - 515)
hEGF: Human growth factor-like EGF (534 - 546)
EGF_CA: Calcium-binding EGF domain (549 - 582)
EGF_CA: Calcium-binding EGF domain (596 - 627)
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 |
|
NELL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NELL1 | Q92832 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
NELL1 | Q92832 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
NELL1 | Q92832 | ATRAID | Homo sapiens | Q6UW56 | 21723284 | |
|
Intra
|
NELL1 | Q92832 | ATRAID | Homo sapiens | Q6UW56 | 21723284 | |
|
Intra
|
NELL1 | Q92832 | ATRAID | Homo sapiens | Q6UW56 | 21723284 | |
|
Intra
|
NELL1 | Q92832 | ATRAID | Homo sapiens | Q6UW56 | 21723284 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Craniosynostosis |
|
|
| Achard Syndrome |
|
|
| Gnathodiaphyseal Dysplasia |
|
|
| Parietal Foramina |
|
|
| Brachydactyly, Type A2 |
|
|
| Cleidocranial Dysplasia |
|
|
| Synostosis |
|
|
| Osteoporosis |
|
|
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 |
| Others | NELL1 | NCBI |