NELL1 - neural EGFL like 1 Gene

Also Known as NRP1; IDH3GL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4745

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
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
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 References
Intra
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
IF
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
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

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