Human Gene NELL1 (ENST00000357134.10_5) from GENCODE V47lift37
  Description: neural EGFL like 1, transcript variant 1 (from RefSeq NM_006157.5)
Gencode Transcript: ENST00000357134.10_5
Gencode Gene: ENSG00000165973.19_10
Transcript (Including UTRs)
   Position: hg19 chr11:20,691,132-21,597,232 Size: 906,101 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr11:20,691,270-21,596,568 Size: 905,299 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:20,691,132-21,597,232)mRNA (may differ from genome)Protein (810 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NELL1_HUMAN
DESCRIPTION: RecName: Full=Protein kinase C-binding protein NELL1; AltName: Full=NEL-like protein 1; AltName: Full=Nel-related protein 1; Flags: Precursor;
FUNCTION: Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.
SUBUNIT: Homotrimer. Binds to PKC beta-1 (By similarity). Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus envelope. Secreted (By similarity). Note=Colocalizes with ATRAID on the nuclear envelope and the perinuclear region.
SIMILARITY: Contains 5 EGF-like domains.
SIMILARITY: Contains 1 laminin G-like domain.
SIMILARITY: Contains 2 VWFC domains.
SEQUENCE CAUTION: Sequence=AAB06946.1; Type=Frameshift; Positions=426, 771;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NELL1
Diseases sorted by gene-association score: craniosynostosis (9), gnathodiaphyseal dysplasia (8), synostosis (7), chondroblastic osteosarcoma (7), osteoblastoma (6), adams-oliver syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.71 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 21.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.30138-0.379 Picture PostScript Text
3' UTR -157.50664-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR024731 - EGF_dom_MSP1-like
IPR001791 - Laminin_G
IPR001007 - VWF_C

Pfam Domains:
PF00093 - von Willebrand factor type C domain
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF
PF12662 - Complement Clr-like EGF-like
PF12714 - TILa domain
PF12947 - EGF domain

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases
57603 - FnI-like domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on Q92832
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0007399 nervous system development
GO:0010468 regulation of gene expression
GO:0030154 cell differentiation
GO:0030501 positive regulation of bone mineralization
GO:0033689 negative regulation of osteoblast proliferation
GO:0045669 positive regulation of osteoblast differentiation
GO:1903363 negative regulation of cellular protein catabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK299558 - Homo sapiens cDNA FLJ55362 complete cds, highly similar to Protein kinase C-binding protein NELL1 precursor.
AK127805 - Homo sapiens cDNA FLJ45906 fis, clone OCBBF3026979, highly similar to Protein kinase C-binding protein NELL1 precursor.
AK313445 - Homo sapiens cDNA, FLJ93987, Homo sapiens NEL-like 1 (chicken) (NELL1), mRNA.
AK303736 - Homo sapiens cDNA FLJ55374 complete cds, highly similar to Protein kinase C-binding protein NELL1 precursor.
D83017 - Homo sapiens mRNA for nel-related protein, complete cds.
BC069674 - Homo sapiens NEL-like 1 (chicken), mRNA (cDNA clone MGC:97364 IMAGE:7262625), complete cds.
BC096100 - Homo sapiens NEL-like 1 (chicken), mRNA (cDNA clone MGC:116742 IMAGE:40001476), complete cds.
BC096101 - Homo sapiens NEL-like 1 (chicken), mRNA (cDNA clone MGC:116743 IMAGE:40001477), complete cds.
BC096102 - Homo sapiens NEL-like 1 (chicken), mRNA (cDNA clone MGC:116744 IMAGE:40001478), complete cds.
BC096103 - Homo sapiens NEL-like 1 (chicken), mRNA (cDNA clone MGC:116745 IMAGE:40001479), complete cds.
KJ897237 - Synthetic construct Homo sapiens clone ccsbBroadEn_06631 NELL1 gene, encodes complete protein.
KR711757 - Synthetic construct Homo sapiens clone CCSBHm_00030760 NELL1 (NELL1) mRNA, encodes complete protein.
KR711758 - Synthetic construct Homo sapiens clone CCSBHm_00030761 NELL1 (NELL1) mRNA, encodes complete protein.
JX565026 - Homo sapiens NELL-1 protein short isoform (NELL1) mRNA, complete cds.
U57523 - Human nel homolog mRNA, partial cds.
CU686968 - Synthetic construct Homo sapiens gateway clone IMAGE:100022678 5' read NELL1 mRNA.
AK093338 - Homo sapiens cDNA FLJ36019 fis, clone TESTI2016421, highly similar to PROTEIN KINASE C-BINDING PROTEIN NELL1.
AX748061 - Sequence 1586 from Patent EP1308459.
AB085898 - Homo sapiens IDH3GL mRNA for isocitrate dehydrogenase 3 (NAD+) gamma-like, complete cds.
JD310045 - Sequence 291069 from Patent EP1572962.
JD518506 - Sequence 499530 from Patent EP1572962.
JD167442 - Sequence 148466 from Patent EP1572962.
JD250477 - Sequence 231501 from Patent EP1572962.
JD378820 - Sequence 359844 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2CKC1, ENST00000357134.1, ENST00000357134.2, ENST00000357134.3, ENST00000357134.4, ENST00000357134.5, ENST00000357134.6, ENST00000357134.7, ENST00000357134.8, ENST00000357134.9, NELL1_HUMAN, NM_006157, NRP1, Q4VB90, Q4VB91, Q6NSY8, Q92832, Q9Y472, uc317zxa.1, uc317zxa.2
UCSC ID: ENST00000357134.10_5
RefSeq Accession: NM_006157.5
Protein: Q92832 (aka NELL1_HUMAN or NEL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.