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NELL1 neural EGFL like 1 [ Homo sapiens (human) ]

Gene ID: 4745, updated on 5-Mar-2024

Summary

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Official Symbol
NELL1provided by HGNC
Official Full Name
neural EGFL like 1provided by HGNC
Primary source
HGNC:HGNC:7750
See related
Ensembl:ENSG00000165973 MIM:602319; AllianceGenome:HGNC:7750
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRP1; IDH3GL
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]
Expression
Biased expression in brain (RPKM 7.1), kidney (RPKM 6.6) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See NELL1 in Genome Data Viewer
Location:
11p15.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (20669551..21575686)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (20790315..21696309)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (20691097..21597232)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20054 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20084 Neighboring gene Sharpr-MPRA regulatory region 9738 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20631780-20631977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:20643011-20643512 Neighboring gene high mobility group box 1 pseudogene 40 Neighboring gene solute carrier family 6 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20787638-20787848 Neighboring gene uncharacterized LOC105376585 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:20902693-20903205 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:20987919-20988485 Neighboring gene RNA, 5S ribosomal pseudogene 336 Neighboring gene uncharacterized LOC124902809 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:21311115-21311614 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20242 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20249 Neighboring gene RNA, 5S ribosomal pseudogene 337 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20387 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20421 Neighboring gene uncharacterized LOC102723370 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20487 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20507 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20562 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:21831599-21832798 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:21882755-21883281 Neighboring gene uncharacterized LOC105376587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:22042648-22043247 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20715 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22086967-22087603 Neighboring gene uncharacterized LOC124902645

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NELL-1 in Genome-Wide Association Studies across Human Diseases. Cheng X, et al. Am J Pathol, 2022 Mar. PMID 34890556, Free PMC Article
  2. NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9. Wang L, et al. J Periodontol, 2022 Jul. PMID 34647317
  3. NELL-1 Increased the Osteogenic Differentiation and mRNA Expression of Spheroids Composed of Stem Cells. Lee JH, et al. Medicina (Kaunas), 2021 Jun 8. PMID 34201046, Free PMC Article
  4. NELL1 is a target antigen in malignancy-associated membranous nephropathy. Caza TN, et al. Kidney Int, 2021 Apr. PMID 32828756, Free PMC Article
  5. Neural epidermal growth factor-like 1 protein (NELL-1) associated membranous nephropathy. Sethi S, et al. Kidney Int, 2020 Jan. PMID 31901340

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
    Title: [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
  2. Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.
    Title: Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.
  3. Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
    Title: Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
  4. NELL1 Regulates the Matrisome to Promote Osteosarcoma Progression.
    Title: NELL1 Regulates the Matrisome to Promote Osteosarcoma Progression.
  5. NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9.
    Title: NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9.
  6. NELL-1 in Genome-Wide Association Studies across Human Diseases.
    Title: NELL-1 in Genome-Wide Association Studies across Human Diseases.
  7. METTL3-Mediated lncRNA m(6)A Modification in the Osteogenic Differentiation of Human Adipose-Derived Stem Cells Induced by NEL-Like 1 Protein.
    Title: METTL3-Mediated lncRNA m(6)A Modification in the Osteogenic Differentiation of Human Adipose-Derived Stem Cells Induced by NEL-Like 1 Protein.
  8. Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
    Title: Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
  9. NELL1 is a target antigen in malignancy-associated membranous nephropathy.
    Title: NELL1 is a target antigen in malignancy-associated membranous nephropathy.
  10. Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
    Title: Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
EBI GWAS Catalog
The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ45906

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase C binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of osteoblast proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ossification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of osteoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein kinase C-binding protein NELL1
Names
nel-related protein 1
neural epidermal growth factor-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047064.1 RefSeqGene

    Range
    5036..911136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288713.1 → NP_001275642.1  protein kinase C-binding protein NELL1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001275642.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
    Source sequence(s)
    AC090707, AK127805, AK313445, BC069674, BX112939, DB327365, JX565026
    Consensus CDS
    CCDS73267.1
    UniProtKB/TrEMBL
    B3KXR2, J3KNC5
    Related
    ENSP00000298925.5, ENST00000298925.9
    Conserved Domains (6) summary
    smart00179
    Location:577 → 614
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:57 → 241
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:301 → 359
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:624 → 655
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:508 → 543
    EGF_3; EGF domain
    cl17735
    Location:729 → 777
    VWC; von Willebrand factor type C domain

  2. NM_001288714.1 → NP_001275643.1  protein kinase C-binding protein NELL1 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AC090707, AK313445, BC069674, BX112939, DB327365, JX565026
    Consensus CDS
    CCDS73268.1
    UniProtKB/TrEMBL
    B4E197, F5H6I3
    Related
    ENSP00000317837.5, ENST00000325319.9
    Conserved Domains (6) summary
    smart00179
    Location:492 → 529
    EGF_CA; Calcium-binding EGF-like domain
    pfam00093
    Location:216 → 274
    VWC; von Willebrand factor type C domain
    pfam12947
    Location:423 → 458
    EGF_3; EGF domain
    cl17735
    Location:644 → 692
    VWC; von Willebrand factor type C domain
    cl21504
    Location:539 → 570
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cl22861
    Location:29 → 156
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

  3. NM_006157.5 → NP_006148.2  protein kinase C-binding protein NELL1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_006148.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AK313445, BC069674, BX112939, DB327365, JX565026
    Consensus CDS
    CCDS7855.1
    UniProtKB/Swiss-Prot
    B2CKC1, Q4VB90, Q4VB91, Q6NSY8, Q92832, Q9Y472
    UniProtKB/TrEMBL
    B3KXR2
    Related
    ENSP00000349654.5, ENST00000357134.10
    Conserved Domains (6) summary
    smart00179
    Location:549 → 586
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29 → 213
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:273 → 331
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:596 → 627
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:480 → 515
    EGF_3; EGF domain
    cl17735
    Location:701 → 749
    VWC; von Willebrand factor type C domain

  4. NM_201551.2 → NP_963845.1  protein kinase C-binding protein NELL1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_963845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC090707, AK313445, BC069674, BX112939, DB327365, JX565026
    Consensus CDS
    CCDS44555.1
    UniProtKB/TrEMBL
    Q4VB88
    Related
    ENSP00000437170.1, ENST00000532434.5
    Conserved Domains (6) summary
    smart00179
    Location:434 → 466
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29 → 213
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:273 → 331
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:549 → 580
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:480 → 515
    EGF_3; EGF domain
    cl17735
    Location:654 → 702
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    20669551..21575686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    20790315..21696309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92832.4 GenPept UniProtKB/Swiss-Prot:Q92832

Gene LinkOut

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