• Gene id: 4745

Gene Summary

• Gene Symbol: NELL1   Gene   UCSC   Ensembl
• Aliases: IDH3GL, NRP1
• Gene name: neural EGFL like 1
• Alternate names: protein kinase C-binding protein NELL1, nel-related protein 1, neural epidermal growth factor-like 1,
• Gene location: 11p15.1 (20669550: 21575685)     Exons: 21     NC_000011.10
• Gene summary(Entrez): 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 craniosynostosi
• OMIM: 602319

SNPs

rs12286075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.20937248T>C
NC_000011.9   g.20958794T>C
NG_047064.1   g.272698T>C|SEQ=[T/C]|GENE=NELL1

rs7106789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.21548178T>C
NC_000011.9   g.21569724T>C
NG_047064.1   g.883628T>C|SEQ=[T/C]|GENE=NELL1

Protein Summary

• Protein general information: Q92832  
  • Name: Protein kinase C binding protein NELL1 (NEL like protein 1) (Nel related protein 1)
  • Length: 810  
  • Mass: 89635
• Sequence:

  MPMDLILVVWFCVCTARTVVGFGMDPDLQMDIVTELDLVNTTLGVAQVSGMHNASKAFLFQDIEREIHAAPHVSE
  KLIQLFRNKSEFTILATVQQKPSTSGVILSIRELEHSYFELESSGLRDEIRYHYIHNGKPRTEALPYRMADGQWH
  KVALSVSASHLLLHVDCNRIYERVIDPPDTNLPPGINLWLGQRNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNH
  TCPTCSDFLSLVQGIMDLQELLAKMTAKLNYAETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHCRNCTCKSG
  AVECRRMSCPPLNCSPDSLPVHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCRECRGGVLVKITEMCPPLNCSE
  KDHILPENQCCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKSGYISVQGDSAYCEDIDECAAKMHYCHANTV
  CVNLPGLYRCDCVPGYIRVDDFSCTEHDECGSGQHNCDENAICTNTVQGHSCTCKPGYVGNGTICRAFCEEGCRY
  GGTCVAPNKCVCPSGFTGSHCEKDIDECSEGIIECHNHSRCVNLPGWYHCECRSGFHDDGTYSLSGESCIDIDEC
  ALRTHTCWNDSACINLAGGFDCLCPSGPSCSGDCPHEGGLKHNGQVWTLKEDRCSVCSCKDGKIFCRRTACDCQN
  PSADLFCCPECDTRVTSQCLDQNGHKLYRSGDNWTHSCQQCRCLEGEVDCWPLTCPNLSCEYTAILEGECCPRCV
  SDPCLADNITYDIRKTCLDSYGVSRLSGSVWTMAGSPCTTCKCKNGRVCCSVDFECLQNN

• Structural information:
  • Protein Domains: (64..22-)
    (/note="Laminin-G-like)
    (271..33-)
    (/note="VWFC-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (434..47-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (476..51-)
    (/note-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR024731  IPR009030  IPR001791  IPR001007  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS01208 PS50184
  • STRING: ENSP00000298925
• Other Databases: GeneCards:  NELL1  Malacards:  NELL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0008201	heparin binding	IBA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0033689	negative regulation of osteoblast proliferation	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:1903363	negative regulation of cellular protein catabolic process	IDA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R