Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NELL1 Gene

Aliases for NELL1 Gene

  • Neural EGFL Like 1 2 3 5
  • Nel-Related Protein 1 3 4
  • NRP1 3 4
  • Protein Kinase C-Binding Protein NELL1 3
  • 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 Gnathodiaphyseal Dysplasia. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NELL1 Gene

Genomics for NELL1 Gene

Regulatory Elements for NELL1 Gene

Enhancers for NELL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G020621 0.4 ENCODE 10.4 -47.6 -47641 0.6 CTBP2 SLC6A5 NELL1 LOC105376586 GC11P020610 GC11P020638
GH11G020544 0.4 ENCODE 9.6 -124.7 -124733 1.0 KLF1 LOC105376586 NELL1 LOC105376584 PRMT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NELL1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for NELL1 Gene

  • Glycosylation at posLast=4040, posLast=5353, posLast=8383, Asn224, posLast=294294, posLast=372372, Asn511, Asn562, Asn609, Asn708, Asn732, and Asn758
  • Modification sites at PhosphoSitePlus

Other Protein References for NELL1 Gene

Antibody Products

  • Abcam antibodies for NELL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NELL1

No data available for DME Specific Peptides for NELL1 Gene

Domains & Families for NELL1 Gene

No data available for Gene Families and UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NELL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21723284
genes like me logo Genes that share ontologies with NELL1: view
genes like me logo Genes that share phenotypes with NELL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NELL1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for NELL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 21723284
GO:0005737 cytoplasm IEA,IDA 21723284
GO:0048471 perinuclear region of cytoplasm IDA 21723284
genes like me logo Genes that share ontologies with NELL1: view

Pathways & Interactions for NELL1 Gene

SuperPathways for NELL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NELL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 8975702
GO:0010468 regulation of gene expression IDA 21723284
GO:0030154 cell differentiation IEA --
GO:0030501 positive regulation of bone mineralization IDA 21723284
GO:0033689 negative regulation of osteoblast proliferation IDA 21723284
genes like me logo Genes that share ontologies with NELL1: view

No data available for Pathways by source and SIGNOR curated interactions for NELL1 Gene

Transcripts for NELL1 Gene

mRNA/cDNA for NELL1 Gene

Unigene Clusters for NELL1 Gene

NEL-like 1 (chicken):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of NELL1 Gene:

NELL1

SOURCE GeneReport for Unigene cluster for NELL1 Gene:

Hs.657172

Evidence on tissue expression from TISSUES for NELL1 Gene

  • Nervous system(4.8)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with NELL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.13 (n)
oppossum
(Monodelphis domestica)
Mammalia NELL1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NELL1 34 35
  • 91.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nell1 34 16 35
  • 87.9 (n)
rat
(Rattus norvegicus)
Mammalia Nell1 34
  • 87.24 (n)
chicken
(Gallus gallus)
Aves NELL1 34 35
  • 81.14 (n)
lizard
(Anolis carolinensis)
Reptilia NELL1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nell1 34
  • 74.41 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01083473.1 35
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010335 34
  • 49.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for NELL1 was found in the sources mined by GeneCards:
  • 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
VAR_035834 A colorectal cancer sample
rs193920875 Uncertain significance 21,534,394(+) CAGAG(G/T)GAATC intron-variant, reference, stop-gained
rs1000004746 -- 20,902,163(+) CTGAT(G/T)GGTTT intron-variant
rs1000005276 -- 21,075,030(+) CTAGA(G/T)GGATA intron-variant
rs1000007339 -- 20,694,421(+) TTAAT(A/C)CATCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1072n100 CNV loss 25217958
dgv133n27 CNV loss 19166990
dgv1684n54 CNV loss 21841781
dgv1685n54 CNV loss 21841781
dgv1686n54 CNV loss 21841781
dgv1687n54 CNV loss 21841781
dgv194e199 CNV deletion 23128226
dgv29n73 CNV deletion 24416366
dgv31n17 CNV loss 16327808
esv1219105 CNV deletion 17803354
esv22497 CNV loss 19812545
esv2350625 CNV deletion 18987734
esv24148 CNV loss 19812545
esv2421865 CNV deletion 20811451
esv2602008 CNV deletion 19546169
esv2657554 CNV deletion 23128226
esv2662113 CNV deletion 23128226
esv2663342 CNV deletion 23128226
esv2668882 CNV deletion 23128226
esv2670476 CNV deletion 23128226
esv2671301 CNV deletion 23128226
esv26893 CNV gain 19812545
esv2744190 CNV deletion 23290073
esv2744191 CNV deletion 23290073
esv2744192 CNV deletion 23290073
esv2744193 CNV deletion 23290073
esv2744194 CNV deletion 23290073
esv2744195 CNV deletion 23290073
esv2744196 CNV deletion 23290073
esv275259 CNV loss 21479260
esv27583 CNV loss 19812545
esv2759808 CNV loss 17122850
esv2760165 CNV loss 21179565
esv2760277 CNV loss 21179565
esv2760522 CNV loss 21179565
esv2761657 CNV loss 21179565
esv3418438 CNV insertion 20981092
esv3547420 CNV deletion 23714750
esv3579418 CNV loss 25503493
esv3579419 CNV loss 25503493
esv3579420 CNV loss 25503493
esv3579421 CNV loss 25503493
esv3579422 CNV loss 25503493
esv3625559 CNV loss 21293372
esv3625560 CNV loss 21293372
esv3625561 CNV gain 21293372
esv3625562 CNV gain 21293372
esv3625563 CNV loss 21293372
esv3625564 CNV gain 21293372
esv3625565 CNV loss 21293372
esv3625566 CNV loss 21293372
esv3625567 CNV gain 21293372
esv3625568 CNV loss 21293372
esv3625569 CNV loss 21293372
esv3625570 CNV gain 21293372
esv3625571 CNV loss 21293372
esv3625572 CNV gain 21293372
esv3625573 CNV gain 21293372
esv3625575 CNV gain 21293372
esv3625576 CNV loss 21293372
esv3625577 CNV gain 21293372
esv3625578 CNV loss 21293372
esv3625579 CNV loss 21293372
esv3625580 CNV loss 21293372
esv3625581 CNV gain 21293372
esv3625582 CNV gain 21293372
esv3891942 CNV loss 25118596
esv3891943 CNV loss 25118596
esv3891944 CNV gain 25118596
nsv1036345 CNV loss 25217958
nsv1036877 CNV loss 25217958
nsv1040954 CNV loss 25217958
nsv1042284 CNV loss 25217958
nsv1043228 CNV gain 25217958
nsv1047641 CNV loss 25217958
nsv1049535 CNV loss 25217958
nsv1049791 CNV loss 25217958
nsv1049813 CNV loss 25217958
nsv1054579 CNV loss 25217958
nsv1069568 CNV deletion 25765185
nsv1137996 CNV deletion 24896259
nsv1140467 CNV tandem duplication 24896259
nsv1144539 CNV deletion 24896259
nsv1144540 CNV deletion 24896259
nsv428251 CNV loss 18775914
nsv437704 CNV loss 16327808
nsv442603 CNV loss 18776908
nsv467720 CNV gain 19166990
nsv467722 CNV loss 19166990
nsv469712 CNV loss 16826518
nsv469939 CNV gain 18288195
nsv469940 CNV loss 18288195
nsv474847 CNV novel sequence insertion 20440878
nsv476157 CNV novel sequence insertion 20440878
nsv477016 CNV novel sequence insertion 20440878
nsv477908 CNV novel sequence insertion 20440878
nsv507584 OTHER sequence alteration 20534489
nsv514601 CNV gain+loss 21397061
nsv515818 CNV loss 19592680
nsv516969 CNV loss 19592680
nsv517915 CNV gain 19592680
nsv519547 CNV loss 19592680
nsv521699 CNV loss 19592680
nsv522335 CNV loss 19592680
nsv553678 CNV gain 21841781
nsv553680 CNV loss 21841781
nsv553682 CNV loss 21841781
nsv553686 CNV loss 21841781
nsv553703 CNV gain 21841781
nsv553704 CNV loss 21841781
nsv7703 CNV deletion 18451855
nsv7704 CNV deletion 18451855
nsv818802 CNV loss 17921354
nsv825781 CNV gain 20364138
nsv825782 CNV loss 20364138
nsv832084 CNV gain 17160897
nsv832085 CNV loss 17160897
nsv832086 CNV gain 17160897
nsv8796 CNV loss 18304495
nsv975892 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
NELL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NELL1

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

Disorders for NELL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
craniosynostosis
  • premature closure of cranial sutures
gnathodiaphyseal dysplasia
  • gdd, osteogenesis imperfecta with unusual skeletal lesions
chondroblastic osteosarcoma
  • chondrosarcomatous osteogenic sarcoma
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 64
  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 64
  3. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PMID: 22379998) McCormack M. … Cavalleri G.L. (Pharmacogenomics 2012) 3 46 64
  4. NELL-1 binds to APR3 affecting human osteoblast proliferation and differentiation. (PMID: 21723284) Zou X. … Zhang X. (FEBS Lett. 2011) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for NELL1 Gene

Sources for NELL1 Gene

Content
Loading form....