• Gene id: 9148

Gene Summary

• Gene Symbol: NEURL1   Gene   UCSC   Ensembl
• Aliases: NEUR1, NEURL, RNF67, bA416N2.1, neu, neu-1
• Gene name: neuralized E3 ubiquitin protein ligase 1
• Alternate names: E3 ubiquitin-protein ligase NEURL1, RING finger protein 67, RING-type E3 ubiquitin transferase NEURL1, h-neuralized 1, neuralized homolog, neuralized-like protein 1A,
• Gene location: 10q24.33 (63827430: 63832026)     Exons: 13     NC_000017.11
• OMIM: 603804

Protein Summary

• Protein general information: O76050  
  • Name: E3 ubiquitin protein ligase NEURL1 (EC 2.3.2.27) (Neuralized like protein 1A) (h neu) (h neuralized 1) (RING finger protein 67) (RING type E3 ubiquitin transferase NEURL1)
  • Length: 574  
  • Mass: 61860
  • Tissue specificity: Expressed in brain, testis, pituitary gland, pancreas and bone marrow. Also poorly expressed in malignant astrocytomas and several neuroectodermal tumor cell lines. Weakly expressed in medulloblastoma (MB) compared with normal cerebell
• Sequence:

  MGNNFSSIPSLPRGNPSRAPRGHPQNLKDSIGGPFPVTSHRCHHKQKHCPAVLPSGGLPATPLLFHPHTKGSQIL
  MDLSHKAVKRQASFCNAITFSNRPVLIYEQVRLKITKKQCCWSGALRLGFTSKDPSRIHPDSLPKYACPDLVSQS
  GFWAKALPEEFANEGNIIAFWVDKKGRVFHRINDSAVMLFFSGVRTADPLWALVDVYGLTRGVQLLDSELVLPDC
  LRPRSFTALRRPSLRREADDARLSVSLCDLNVPGADGDEAAPAAGCPIPQNSLNSQHSRALPAQLDGDLRFHALR
  AGAHVRILDEQTVARVEHGRDERALVFTSRPVRVAETIFVKVTRSGGARPGALSFGVTTCDPGTLRPADLPFSPE
  ALVDRKEFWAVCRVPGPLHSGDILGLVVNADGELHLSHNGAAAGMQLCVDASQPLWMLFGLHGTITQIRILGSTI
  LAERGIPSLPCSPASTPTSPSALGSRLSDPLLSTCSSGPLGSSAGGTAPNSPVSLPESPVTPGLGQWSDECTICY
  EHAVDTVIYTCGHMCLCYACGLRLKKALHACCPICRRPIKDIIKTYRSS

• Structural information:
  • Protein Domains: (61..21-)
    (/note="NHR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00400-)
    (292..44-)
    (/note="NHR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00400"-)
  • Interpro: IPR037962  IPR006573  IPR001841  IPR013083  
  • Prosite: PS51065 PS50089
  • STRING: ENSP00000358795
• Other Databases: GeneCards:  NEURL1  Malacards:  NEURL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0045746	negative regulation of Notch signaling pathway	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0097440	apical dendrite	ISS	cellular component
GO:0071230	cellular response to amino acid stimulus	ISS	biological process
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	ISS	biological process
GO:0045183	translation factor activity, non-nucleic acid binding	ISS	molecular function
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0090129	positive regulation of synapse maturation	ISS	biological process
GO:0043204	perikaryon	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0006513	protein monoubiquitination	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0045183	translation factor activity, non-nucleic acid binding	IEA	molecular function
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0051491	positive regulation of filopodium assembly	IEA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0097440	apical dendrite	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	IEA	biological process
GO:0090129	positive regulation of synapse maturation	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray