Nell1 NEL-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nell1provided by MGI
Official Full Name: NEL-like 1provided by MGI
Primary source: MGI:MGI:2443902
See related: Ensembl:ENSMUSG00000055409 AllianceGenome:MGI:2443902
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: l7R6; B230343H07Rik
Summary: Predicted to enable heparin binding activity; identical protein binding activity; and protein kinase C binding activity. Predicted to be involved in several processes, including negative regulation of osteoblast proliferation; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within cell differentiation. Predicted to be located in extracellular space; nuclear envelope; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Is expressed in several structures, including basal columns; cranium; tooth; tooth bud; and urinary system. Orthologous to human NELL1 (neural EGFL like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 7.7), cerebellum adult (RPKM 7.7) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B4; 7 31.79 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (49625098..50513037)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (49975350..50863289)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.
Title: Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.
Neural EGFL like 1 as a potential pro-chondrogenic, anti-inflammatory dual-functional disease-modifying osteoarthritis drug.
Title: Neural EGFL like 1 as a potential pro-chondrogenic, anti-inflammatory dual-functional disease-modifying osteoarthritis drug.
The cumulative chondrocyte-specific Nell-1 inactivation significantly impedes appendicular skeletogenesis resulting in dwarfism and premature osteoporosis through inhibiting Ihh signaling and predominantly altering the Ihh-PTHrP feedback loop/
Title: Inactivation of Nell-1 in Chondrocytes Significantly Impedes Appendicular Skeletogenesis.
a novel biological functional axis for Nell-1 and Cntnap4 in osteogenesis and, potentially, in neural development and function, is reported.
Title: Neurexin Superfamily Cell Membrane Receptor Contactin-Associated Protein Like-4 (Cntnap4) Is Involved in Neural EGFL-Like 1 (Nell-1)-Responsive Osteogenesis.
Nell-1-haploinsufficient mice have normal skeletal development but undergo age-related osteoporosis, characterized by a reduction in osteoblast:osteoclast ratio and increased bone fragility.
Title: NELL-1 in the treatment of osteoporotic bone loss.
NELL-1570 has the potential to be used for cell-based or hormone-based therapy of bone regeneration.
Title: Proliferation and osteogenic differentiation of mesenchymal stem cells induced by a short isoform of NELL-1.
These results suggest that an oligomerization-induced conformational change in the C-terminal region of NELL1 is important for the efficient mediation of cell adhesion and spreading by NELL1.
Title: 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.
Nell-1 might play a role in ameloblast and odontoblast differentiation, secretion and mineralization of the extracellular enamel matrix, molar crown morphogenesis, as well as root formation during the entire development period.
Title: Expression and localization of Nell-1 during murine molar development.
NELL-1 protein promotes cell adhesion in ST2 cells.
Title: NELL-1 promotes cell adhesion and differentiation via Integrinβ1.
The C-terminal region of NELL1 mediates osteoblastic cell adhesion through integrin alpha3beta1
Title: The C-terminal region of NELL1 mediates osteoblastic cell adhesion through integrin α3β1.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Chemically induced (ENU) (9) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AV046776 (e-PCR)
- UniSTS:165529

M-01545 (e-PCR)
- UniSTS:186277

Gene Ontology Provided by MGI

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 heparin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein kinase C binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase C binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ossification	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ossification	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of osteoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein kinase C-binding protein NELL1

Names: NEL-like protein 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.

mRNA and Protein(s)

NM_001037906.2 → NP_001032995.1 protein kinase C-binding protein NELL1 precursor

See identical proteins and their annotated locations for NP_001032995.1

Status: PROVISIONAL

Source sequence(s)

AC110036, AC115080, AC116694, AC116734, AC128699, AC161929, AC163402, AC171557

Consensus CDS

CCDS21309.1

UniProtKB/Swiss-Prot

Q2VWQ2

UniProtKB/TrEMBL

D3YWD8

Related

ENSMUSP00000080550.6, ENSMUST00000081872.13

Conserved Domains (5) summary

smart00179
Location:549 → 586

EGF_CA; Calcium-binding EGF-like domain

smart00210
Location:29 → 213

TSPN; Thrombospondin N-terminal -like domains

pfam07645
Location:596 → 627

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:480 → 515

EGF_3; EGF domain

cl17735
Location:273 → 331

VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

49625098..50513037

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177413.2: Suppressed sequence

Description

NM_177413.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.