ENSMUSG00000055409


Mus musculus

Features
Gene ID: ENSMUSG00000055409
  
Biological name :Nell1
  
Synonyms : Nell1 / Protein kinase C-binding protein NELL1 / Q2VWQ2
  
Possible biological names infered from orthology : neural EGFL like 1 / Q92832
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: B4
Gene start: 49974864
Gene end: 50866608
  
Corresponding Affymetrix probe sets: 10553450 (MoGene1.0st)   1433787_at (Mouse Genome 430 2.0 Array)   1447076_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000080550
Ensembl peptide - ENSMUSP00000114706
Ensembl peptide - ENSMUSP00000103229
NCBI entrez gene - 338352     See in Manteia.
MGI - MGI:2443902
RefSeq - NM_001037906
RefSeq Peptide - NP_001032995
swissprot - D3YWD8
swissprot - D3YV40
swissprot - Q2VWQ2
Ensembl - ENSMUSG00000055409
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NELL1ENSGALG00000003777Gallus gallus
 NELL1ENSG00000165973Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nell2 / Q61220 / Mus musculus NEL-like 2 (Nell2), transcript variant 1, mRNA. / Q99435* / neural EGFL like 2*ENSMUSG0000002245454


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001007  VWFC domain
 IPR001791  Laminin G domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR018097  EGF-like calcium-binding, conserved site
 IPR024731  EGF domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010468 regulation of gene expression ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030501 positive regulation of bone mineralization ISS
 biological_processGO:0033689 negative regulation of osteoblast proliferation ISS
 biological_processGO:0045669 positive regulation of osteoblast differentiation ISS
 biological_processGO:1903363 negative regulation of cellular protein catabolic process ISO
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope ISS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000434 megacephaly "an abnormally large size of the head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004173 abnormal intervertebral disk morphology "malformation of the cartilagenous and gelatinous structure found between vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004375 enlarged frontal bone "increased size of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004386 enlarged interparietal bone "increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004421 enlarged parietal bone "increased size of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004474 enlarged nasal bone "increased size of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005225 abnormal vertebrae development "anomalous formation of the vertebrae from the sclerotome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005229 abnormal intervertebral disk development "anomalous fromation of the cartilagenous and gelatinous structure found between vertebrae" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nell1l7R6-4R/Nell1l7R6-4R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-4R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-5R/Nell1l7R6-5R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-5R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-7R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-7R/Nell1l7R6-7R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-8R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-8R/Nell1l7R6-8R
Genetic Background: Mixed stock

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Adamts20bt-1R/Adamts20bt-1R
Genetic Background: C3H/Rl-Adamts20bt-1R/R

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Saa3l7R3-2R/Saa3l7R3-2R
Genetic Background: involves: BJR

Allelic Composition: Nell1l7R6-2R/Nell1l7R6-2R
Genetic Background: involves: BJR

Allelic Composition: Nell1l7R6-3R/Nell1l7R6-3R
Genetic Background: involves: BJR

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-4R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-5R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-7R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-1R/Nell1l7R6-8R
Genetic Background: Mixed stock

Allelic Composition: Nell1l7R6-8R/Nell1l7R6-8R
Genetic Background: Mixed stock

 MP:0020040 decreased bone ossification "decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [ORCID: orcid.org/0000-0003-4606-0597]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030275 thin frontal bone "reduced thickness of the single bone forming the forehead and roof of the eye orbit" [MGI:anna]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030277 thin interparietal bone "reduced thickness of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:anna]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030281 thin parietal bone "reduced thickness of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium" [MGI:anna]
Show

Allelic Composition: Vegfatm4Pec/Vegfatm4Pec
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr