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Aliases for NELL1 Gene

Aliases for NELL1 Gene

  • NEL-Like 1 (Chicken) 2 3
  • 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 Protein 1 4
  • IDH3GL 3

External Ids for NELL1 Gene

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 (NEL-Like 1 (Chicken)) is a Protein Coding gene. Diseases associated with NELL1 include gnathodiaphyseal dysplasia and craniosynostosis. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NPNT.

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

Genomic Location for NELL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NELL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NELL1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn40, Asn53, Asn83, Asn224, Asn294, Asn372, Asn511, Asn562, Asn609, Asn708, Asn732, and Asn758

Other Protein References for NELL1 Gene

No data available for DME Specific Peptides for NELL1 Gene

Domains for NELL1 Gene

UniProtKB/Swiss-Prot:

NELL1_HUMAN
Domain:
  • Contains 5 EGF-like domains.:
    • Q92832
  • Contains 1 laminin G-like domain.:
    • Q92832
  • Contains 2 VWFC domains.:
    • Q92832
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.

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 5
extracellular 3
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:0005635 nuclear envelope IDA 21723284
GO:0005737 cytoplasm IDA 21723284
GO:0048471 perinuclear region of cytoplasm IDA 21723284
genes like me logo Genes that share ontologies with NELL1: view

Pathways for NELL1 Gene

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

Pathways by source for NELL1 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for NELL1 Gene
1 R&D Systems pathway for NELL1 Gene
1 Sino Biological pathway for NELL1 Gene
1 Cell Signaling Technology pathway for NELL1 Gene
1 PharmGKB pathway for NELL1 Gene
2 KEGG pathways 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: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

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (10.0), Brain - Cortex (7.7), Brain - Anterior cingulate cortex (BA24) (6.4), Brain - Hippocampus (4.8), and Brain - Hypothalamus (4.3).

Integrated Proteomics: protein expression 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 expressions with NELL1: view

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
  • 99.13 (n)
  • 98.75 (a)
NELL1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NELL1 36
  • 91.54 (n)
  • 95.2 (a)
NELL1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nell1 36
  • 87.9 (n)
  • 93.33 (a)
Nell1 16
Nell1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NELL1 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 82 (a)
OneToMany
-- 37
  • 89 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nell1 36
  • 87.24 (n)
  • 92.59 (a)
chicken
(Gallus gallus)
Aves NELL1 36
  • 81.14 (n)
  • 87.12 (a)
NELL1 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NELL1 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nell1 36
  • 74.41 (n)
  • 82.91 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01083473.1 37
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010335 36
  • 49.33 (n)
  • 41.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs2297 -- 21,263,547(+) AGTTG(C/T)GTGTG intron-variant
rs2363 -- 21,332,900(+) CTACT(A/G)AGATT intron-variant
rs92485 -- 20,760,040(-) ATGAT(A/G)GTAGC intron-variant
rs167851 -- 20,771,047(-) CTTCT(C/G)TCCAG intron-variant
rs179122 -- 20,798,679(+) CCTCA(A/G)GCTGT intron-variant

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

Relevant External Links for NELL1 Gene

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

Disorders for NELL1 Gene

(1) University of Copenhagen DISEASES for NELL1 Gene

Relevant External Links for NELL1

Genetic Association Database (GAD)
NELL1
Human Genome Epidemiology (HuGE) Navigator
NELL1
genes like me logo Genes that share disorders with NELL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Human NELL-1 expressed in unilateral coronal synostosis. (PMID: 9893069) Ting K. … Longaker M.T. (J. Bone Miner. Res. 1999) 3 23
  4. The neuronal EGF-related genes NELL1 and NELL2 are expressed in hemopoietic cells and developmentally regulated in the B lineage. (PMID: 10231576) Luce M.J. … Burrows P.D. (Gene 1999) 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

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Neurotrophins & Receptors in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NELL1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NELL1
    • Block miRNA regulation of NELL1 using miScript Target Protectors

    Sources for NELL1 Gene

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