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

Gene ID: 4745, updated on 1-Jun-2020

Summary

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
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

Genomic context

See NELL1 in Genome Data Viewer
Location:
11p15.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (20669551..21575686)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (20691117..21597232)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 40 Neighboring gene uncharacterized LOC105376586 Neighboring gene solute carrier family 6 member 5 Neighboring gene uncharacterized LOC105376585 Neighboring gene RNA, 5S ribosomal pseudogene 336 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 337 Neighboring gene uncharacterized LOC107984320 Neighboring gene uncharacterized LOC102723370 Neighboring gene uncharacterized LOC105376587

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45906

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..911136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288713.1NP_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/Swiss-Prot
    Q92832
    UniProtKB/TrEMBL
    B3KXR2, J3KNC5, K9UUD5
    Related
    ENSP00000298925.5, ENST00000298925.9
    Conserved Domains (6) summary
    smart00179
    Location:577614
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:57241
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:301359
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:624655
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:508543
    EGF_3; EGF domain
    cl17735
    Location:729777
    VWC; von Willebrand factor type C domain
  2. NM_001288714.1NP_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/Swiss-Prot
    Q92832
    UniProtKB/TrEMBL
    F5H6I3, K9UUD5
    Related
    ENSP00000317837.5, ENST00000325319.9
    Conserved Domains (6) summary
    smart00179
    Location:492529
    EGF_CA; Calcium-binding EGF-like domain
    pfam00093
    Location:216274
    VWC; von Willebrand factor type C domain
    pfam12947
    Location:423458
    EGF_3; EGF domain
    cl17735
    Location:644692
    VWC; von Willebrand factor type C domain
    cl21504
    Location:539570
    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:29156
    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_006157.5NP_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
    Q92832
    UniProtKB/TrEMBL
    K9UUD5
    Related
    ENSP00000349654.5, ENST00000357134.10
    Conserved Domains (6) summary
    smart00179
    Location:549586
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29213
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:273331
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:596627
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:480515
    EGF_3; EGF domain
    cl17735
    Location:701749
    VWC; von Willebrand factor type C domain
  4. NM_201551.2NP_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/Swiss-Prot
    Q92832
    UniProtKB/TrEMBL
    K9UUD5
    Related
    ENSP00000437170.1, ENST00000532434.5
    Conserved Domains (6) summary
    smart00179
    Location:434466
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29213
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:273331
    VWC; von Willebrand factor type C domain
    pfam07645
    Location:549580
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:480515
    EGF_3; EGF domain
    cl17735
    Location:654702
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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