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Aliases for NELL1 Gene

Aliases for NELL1 Gene

  • Neural EGFL Like 1 2 3 5
  • Nel-Related Protein 1 3 4
  • NRP1 3 4
  • Neural Epidermal Growth Factor-Like 1 3
  • Nel (Chicken)-Like 1 2
  • NEL-Like 1 (Chicken) 2
  • NEL-Like Protein 1 4
  • IDH3GL 3

External Ids for NELL1 Gene

Previous GeneCards Identifiers for NELL1 Gene

  • GC11P021829
  • GC11P021492
  • GC11P020730
  • GC11P020655
  • GC11P020382

Summaries for NELL1 Gene

Entrez Gene Summary for NELL1 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 craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for NELL1 Gene

NELL1 (Neural EGFL Like 1) is a Protein Coding gene. Diseases associated with NELL1 include craniosynostosis and chondroblastic osteosarcoma. Among its related pathways are Signaling by GPCR and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NELL2.

UniProtKB/Swiss-Prot for NELL1 Gene

  • Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.

Gene Wiki entry for NELL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NELL1 Gene

Genomics for NELL1 Gene

Regulatory Elements for NELL1 Gene

Genomic Location for NELL1 Gene

Chromosome:
11
Start:
20,669,551 bp from pter
End:
21,575,686 bp from pter
Size:
906,136 bases
Orientation:
Plus strand

Genomic View for NELL1 Gene

Genes around NELL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NELL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NELL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NELL1 Gene

Proteins for NELL1 Gene

  • Protein details for NELL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92832-NELL1_HUMAN
    Recommended name:
    Protein kinase C-binding protein NELL1
    Protein Accession:
    Q92832
    Secondary Accessions:
    • B2CKC1
    • Q4VB90
    • Q4VB91
    • Q6NSY8
    • Q9Y472

    Protein attributes for NELL1 Gene

    Size:
    810 amino acids
    Molecular mass:
    89635 Da
    Quaternary structure:
    • Homotrimer. Binds to PKC beta-1 (By similarity). Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.
    SequenceCaution:
    • Sequence=AAB06946.1; Type=Frameshift; Positions=426, 771; Evidence={ECO:0000305};

    Alternative splice isoforms for NELL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NELL1 Gene

Proteomics data for NELL1 Gene at MOPED

Post-translational modifications for NELL1 Gene

  • Glycosylation at Asn 40, Asn 53, Asn 83, Asn 224, Asn 294, Asn 372, Asn 511, Asn 562, Asn 609, Asn 708, Asn 732, and Asn 758
  • Modification sites at PhosphoSitePlus

Other Protein References for NELL1 Gene

Antibody Products

No data available for DME Specific Peptides for NELL1 Gene

Domains & Families for NELL1 Gene

Suggested Antigen Peptide Sequences for NELL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92832

UniProtKB/Swiss-Prot:

NELL1_HUMAN :
  • Contains 5 EGF-like domains.
Domain:
  • Contains 5 EGF-like domains.
  • Contains 1 laminin G-like domain.
  • Contains 2 VWFC domains.
genes like me logo Genes that share domains with NELL1: view

No data available for Gene Families for NELL1 Gene

Function for NELL1 Gene

Molecular function for NELL1 Gene

GENATLAS Biochemistry:
chicken nel-like 1 homolog with a wide and weak expression,preferentially expressed in cranial intramembranous bone and neural tissues (upregulated during unilateral premature closure of the corneal suture) transciently also expressed in hematopoietic cells during pre B cell development and in adult and fetal brain,potentially playing an oncogenic role in these cells
UniProtKB/Swiss-Prot Function:
Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.
genes like me logo Genes that share phenotypes with NELL1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NELL1 Gene

Localization for NELL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NELL1 Gene

Cytoplasm. Nucleus envelope. Secreted. Note=Colocalizes with ATRAID on the nuclear envelope and the perinuclear region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NELL1 Gene COMPARTMENTS Subcellular localization image for NELL1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for NELL1 Gene

Pathways & Interactions for NELL1 Gene

genes like me logo Genes that share pathways with NELL1: view

Pathways by source for NELL1 Gene

Gene Ontology (GO) - Biological Process for NELL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 8975702
GO:0045669 positive regulation of osteoblast differentiation IDA 21723284
GO:2000599 negative regulation of cyclin catabolic process IDA 21723284
genes like me logo Genes that share ontologies with NELL1: view

No data available for SIGNOR curated interactions for NELL1 Gene

Drugs & Compounds for NELL1 Gene

No Compound Related Data Available

Transcripts for NELL1 Gene

Unigene Clusters for NELL1 Gene

NEL-like 1 (chicken):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NELL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: - - - -
SP2: - -
SP3:
SP4:

Relevant External Links for NELL1 Gene

GeneLoc Exon Structure for
NELL1
ECgene alternative splicing isoforms for
NELL1

Expression for NELL1 Gene

mRNA expression in normal human tissues for NELL1 Gene

mRNA differential expression in normal tissues according to GTEx for NELL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.0), Brain - Cortex (x7.7), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Hippocampus (x4.8), and Brain - Hypothalamus (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NELL1 Gene



SOURCE GeneReport for Unigene cluster for NELL1 Gene Hs.657172

genes like me logo Genes that share expression patterns with NELL1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for NELL1 Gene

Orthologs for NELL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NELL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NELL1 36
  • 96 (a)
OneToOne
NELL1 35
  • 99.13 (n)
  • 98.75 (a)
dog
(Canis familiaris)
Mammalia NELL1 36
  • 95 (a)
OneToOne
NELL1 35
  • 91.54 (n)
  • 95.2 (a)
mouse
(Mus musculus)
Mammalia Nell1 16
Nell1 36
  • 93 (a)
OneToOne
Nell1 35
  • 87.9 (n)
  • 93.33 (a)
oppossum
(Monodelphis domestica)
Mammalia NELL1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nell1 35
  • 87.24 (n)
  • 92.59 (a)
chicken
(Gallus gallus)
Aves NELL1 35
  • 81.14 (n)
  • 87.12 (a)
NELL1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NELL1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nell1 35
  • 74.41 (n)
  • 82.91 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01083473.1 36
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010335 35
  • 49.33 (n)
  • 41.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for NELL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NELL1 Gene

ENSEMBL:
Gene Tree for NELL1 (if available)
TreeFam:
Gene Tree for NELL1 (if available)

Paralogs for NELL1 Gene

Paralogs for NELL1 Gene

(5) SIMAP similar genes for NELL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NELL1: view

Variants for NELL1 Gene

Sequence variations from dbSNP and Humsavar for NELL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs8176786 - 20,937,848(+) GCTGT(C/T)GGGAA reference, missense
VAR_035834 A colorectal cancer sample
rs8176785 - 20,783,740(+) GTTCC(A/G)GAACA reference, missense
VAR_047829 -
VAR_047830 -

Structural Variations from Database of Genomic Variants (DGV) for NELL1 Gene

Variant ID Type Subtype PubMed ID
nsv469939 CNV Gain 18288195
nsv467720 CNV Gain 19166990
nsv7703 CNV Loss 18451855
nsv897032 CNV Loss 21882294
nsv519547 CNV Loss 19592680
nsv467722 CNV Loss 19166990
nsv825781 CNV Gain 20364138
esv26893 CNV Gain 19812545
esv2663342 CNV Deletion 23128226
esv1219105 CNV Deletion 17803354
esv2744190 CNV Deletion 23290073
esv2744191 CNV Deletion 23290073
esv2744192 CNV Deletion 23290073
esv2744193 CNV Deletion 23290073
esv2657554 CNV Deletion 23128226
esv24148 CNV Loss 19812545
esv2744194 CNV Deletion 23290073
esv2602008 CNV Deletion 19546169
esv2350625 CNV Deletion 18987734
dgv194e199 CNV Deletion 23128226
nsv517915 CNV Gain 19592680
dgv1037n71 CNV Loss 21882294
esv2744195 CNV Deletion 23290073
nsv832084 CNV Gain 17160897
nsv7704 CNV Loss 18451855
nsv428251 CNV Loss 18775914
dgv352e1 CNV Complex 17122850
essv16605 CNV CNV 17122850
nsv832085 CNV Loss 17160897
esv2671301 CNV Deletion 23128226
nsv897035 CNV Gain 21882294
dgv31n17 CNV Loss 16327808
nsv8796 CNV Loss 18304495
esv2670476 CNV Deletion 23128226
esv27583 CNV Loss 19812545
esv2421865 CNV Deletion 20811451
dgv133n27 CNV Loss 19166990
nsv469940 CNV Loss 18288195
nsv515818 CNV Loss 19592680
nsv818802 CNV Loss 17921354
essv14684 CNV CNV 17122850
essv9839 CNV CNV 17122850
nsv442603 CNV CNV 18776908
nsv514601 CNV Complex 21397061
nsv437704 CNV Loss 16327808
nsv507584 CNV Insertion 20534489
esv2662113 CNV Deletion 23128226
nsv897036 CNV Gain 21882294
nsv897037 CNV Gain 21882294
nsv825782 CNV Loss 20364138
nsv522335 CNV Loss 19592680
esv2668882 CNV Deletion 23128226
esv22497 CNV Loss 19812545
nsv521699 CNV Loss 19592680
nsv516969 CNV Loss 19592680
esv2744196 CNV Deletion 23290073
nsv832086 CNV Gain 17160897
esv275259 CNV Loss 21479260
nsv469712 CNV Loss 16826518

Variation tolerance for NELL1 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NELL1 Gene

HapMap Linkage Disequilibrium report
NELL1
Human Gene Mutation Database (HGMD)
NELL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NELL1 Gene

Disorders for NELL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NELL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis
  • premature closure of cranial sutures
chondroblastic osteosarcoma
  • chondrosarcomatous osteogenic sarcoma
gnathodiaphyseal dysplasia
  • levin syndrome 2
synostosis
osteoblastoma
- elite association - COSMIC cancer census association via MalaCards
Search NELL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NELL1

Genetic Association Database (GAD)
NELL1
Human Genome Epidemiology (HuGE) Navigator
NELL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NELL1
genes like me logo Genes that share disorders with NELL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NELL1 Gene

Publications for NELL1 Gene

  1. Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats. (PMID: 8975702) Watanabe T.K. … Takahashi E. (Genomics 1996) 2 3 4 67
  2. Oligomerization-induced conformational change in the C-terminal region of Nel-like molecule 1 (NELL1) protein is necessary for the efficient mediation of murine MC3T3-E1 cell adhesion and spreading. (PMID: 24563467) Nakamura Y. … Niimi T. (J. Biol. Chem. 2014) 2 3
  3. Hypermethylation of the nel-like 1 gene is a common and early event and is associated with poor prognosis in early-stage esophageal adenocarcinoma. (PMID: 17452981) Jin Z. … Meltzer S.J. (Oncogene 2007) 3 23
  4. Identification of NAD+-dependent isocitrate dehydrogenase 3 gamma- like (IDH3GL) gene and its genetic polymorphisms. (PMID: 14659887) Okamoto K. … Inoko H. (Gene 2003) 3 23
  5. Brain specific human genes, NELL1 and NELL2, are predominantly expressed in neuroblastoma and other embryonal neuroepithelial tumors. (PMID: 11803583) Maeda K. … Kuroda S. (Neurol. Med. Chir. (Tokyo) 2001) 3 23

Products for NELL1 Gene

Sources for NELL1 Gene

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