HUMAN:NLGNX

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	NLGN4X ( synonyms: KIAA1260, NLGN4 )
Protein Name(s)	Neuroligin-4, X-linked Neuroligin X HNLX
External Links
UniProt Identifier	NLGNX_HUMAN
UniProt Accessions	Q8N0W4, Q6UX10, Q9ULG0,
EMBL	AF376803, AB033086, BC034018, AY358562,
RefSeq	NP_065793.1, NP_851849.1,
PDB	2WQZ, 2XB6, 3BE8,
IntAct	Q8N0W4,
Ensembl	ENST00000275857, ENST00000381092, ENST00000381095,
Pfam	PF00135,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0009986	cell surface		IDA: Inferred from Direct Assay		C	Source: UniProtKB
	GO:0005887	integral to plasma membrane		IDA: Inferred from Direct Assay		C	Source: UniProtKB
	GO:0031404	chloride ion binding		IDA: Inferred from Direct Assay		F	Source: UniProtKB
	GO:0042043	neurexin binding		IPI: Inferred from Physical Interaction		F	Source: UniProtKB
	GO:0042803	protein homodimerization activity		IDA: Inferred from Direct Assay		F	Source: UniProtKB
	GO:0007155	cell adhesion		IEA: Inferred from Electronic Annotation		P	Source: UniProtKB-KW
	GO:0045216	cell-cell junction organization		NAS: Non-traceable Author Statement		P	Source: UniProtKB
	GO:0035176	social behavior		IMP: Inferred from Mutant Phenotype		P	Source: UniProtKB
	GO:0005886	plasma membrane	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C	Immunofluorescence was used: Figure 3A and B showed NL4 localizes in transfected COS-7 cells (from rat hippocampus) to plasma membrane, whereas the mutant NL4 localizes in the ER. Calnexin is an ER marker (Figure 3A) and Gm130 is a cis-Golgi marker (Figure 3B). Wild type did not overlap with either calnexin and GM130 (Figure 3A and B).	complete
	GO:0050808	synapse organization		IMP: Inferred from Mutant Phenotype		P	Source: UniProtKB
	GO:0009986	cell surface	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C	Used surface biotinylation assay in transfected HEK293 cells to investigate surface exposure of NL4. Figure 3C showed more biotinlyated surface in wild type than mutant.	complete
	GO:0030425	dendrite	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C	Transfected rat hippocampal neurons (COS-7 cells) and immunocytochemistry was used. Figure 4A showed cultured hippocampus cells; the wild type expression of NL4 was seen in the dendrites. MAP2 is a dendritic marker therefore overlap was seen between wild type NL4 and MAP2 but this was not seen in the mutant NL4. No overlap was seen between the wild type with cis-Golgi marker GM120 (Figure 4B) and synaptic vesicle marker Syt-1 (Figure 4C).	complete
	GO:0007416	synapse assembly	PMID:19726642^[1]	IDA: Inferred from Direct Assay		P	Measure ability to induce synapse formation in transfected COS-7 rat hippocampal neuronal cells (immunofluorescence). Figure 5 shows COS cell with wild type NL4 was fully active which induced synapse formation but no synapse formation was seen in the mutant. (formation of synapse was measured by fluorescence intensity of synaptotagmin-1 which is involved in synaptic formation)	complete
	GO:0014069	postsynaptic density	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C	Immunofluorescence was used in COS-7 rat hippocampal neuronal cells. Figure 6A shows the over expression of wild type NL4 expressed in postsynaptic spines (NL4 fluorescent overlaps with synapsin which has a role in regulation of synapse) whereas mutant NL4 showed no formation of postsynaptic spines. Also figure 6B shows high density of postsynaptic spines in COS-7 cells that have wild type NL4 compared to mutant NL4.	complete
	GO:0051963	regulation of synaptogenesis	PMID:19726642^[1]	IDA: Inferred from Direct Assay		P	Figure 6B shows high density of postsynaptic spine and presynaptic terminals when there is over expression of wild type NL4 compared to mutant.	complete
	GO:0060079	regulation of excitatory postsynaptic membrane potential	PMID:19726642^[1]	IDA: Inferred from Direct Assay		P	Electrophysiological recordings of mEPSC and mIPSC where used which were stimulated by action potentials. Figure 7A showed that wild type NL4 suppressed the frequency of mEPSC but not mIPSC in figure 7B. However the mutant NL4 did not suppress mEPSC or the mIPSC. Similar results are seen in figure 8A and B where the amplitude was measured. The wild type decreased the amplitude for mEPSC but not mIPSC and the mutant NL4 did not decrease the amplitude of mEPSC or mIPSC. Resulting into the mutant being non-active. (Another possible GO term to create can be negative regulation of excitatory postsynaptic membrane potential)	complete
	GO:0002124	territorial aggressive behavior	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
	GO:0003360	brainstem development	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
	GO:0004872	receptor activity	GO_REF:0000033		PANTHER:PTHR11559_AN146	F
	GO:0005515	protein binding	PMID:11368788^[3]	IPI: Inferred from Physical Interaction	UniProtKB:P31016	F
	GO:0005515	protein binding	PMID:17292328^[4]	IPI: Inferred from Physical Interaction	UniProtKB:Q9NY99	F
	GO:0005886	plasma membrane	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C
	GO:0005887	integral to plasma membrane	PMID:11368788^[3]	IDA: Inferred from Direct Assay		C
	GO:0007155	cell adhesion	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000460	P
	GO:0007155	cell adhesion	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0130	P
	GO:0007416	synapse assembly	PMID:19726642^[1]	IDA: Inferred from Direct Assay		P
	GO:0008049	male courtship behavior	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
	GO:0009986	cell surface	PMID:15150161^[5]	IDA: Inferred from Direct Assay		C
	GO:0009986	cell surface	PMID:17292328^[4]	IDA: Inferred from Direct Assay		C
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000460	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016020	membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0162	C
	GO:0016021	integral to membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0812	C
	GO:0016021	integral to membrane	PMID:16377159^[6]	NAS: Non-traceable Author Statement		C
	GO:0021549	cerebellum development	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
	GO:0030425	dendrite	PMID:19726642^[1]	IDA: Inferred from Direct Assay		C
	GO:0031404	chloride ion binding	PMID:18093521^[7]	IDA: Inferred from Direct Assay		F
	GO:0035176	social behavior	PMID:12669065^[8]	IMP: Inferred from Mutant Phenotype		P
	GO:0042043	neurexin family protein binding	PMID:18093521^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q63373	F
	GO:0042043	neurexin family protein binding	PMID:19726642^[1]	IDA: Inferred from Direct Assay		F
	GO:0042803	protein homodimerization activity	PMID:18093521^[7]	IDA: Inferred from Direct Assay		F
	GO:0045202	synapse	GO_REF:0000033		PANTHER:PTHR11559_AN146	C
	GO:0045202	synapse	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	C
	GO:0045216	cell-cell junction organization	PMID:11368788^[3]	NAS: Non-traceable Author Statement		P
	GO:0046622	positive regulation of organ growth	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
	GO:0050808	synapse organization	PMID:11368788^[3]	NAS: Non-traceable Author Statement		P
	GO:0050808	synapse organization	PMID:15150161^[5]	IMP: Inferred from Mutant Phenotype		P
	GO:0060076	excitatory synapse	PMID:15620359^[9]	IDA: Inferred from Direct Assay		C
	GO:0060079	regulation of excitatory postsynaptic membrane potential	PMID:19726642^[1]	IDA: Inferred from Direct Assay		P
	GO:0071625	vocalization behavior	PMID:18227507^[2]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:B0F2B4	P
NOT	GO:0004091	carboxylesterase activity	GO_REF:0000033		PANTHER:PTHR11559_AN146	F
	GO:0035176	social behavior	PMID:14963808^[10]	IDA: Inferred from Direct Assay		P	Figure 2 page 555	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 Zhang C et al. (2009) A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci 29: 10843-54 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Jamain S et al. (2008) Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc Natl Acad Sci U S A 105: 1710-5 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Bolliger MF et al. (2001) Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression. Biochem J 356: 581-8 PubMed GONUTS page
↑ ^4.0 ^4.1 Yamakawa H et al. (2007) Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations. Biochem Biophys Res Commun 355: 41-6 PubMed GONUTS page
↑ ^5.0 ^5.1 Chih B et al. (2004) Disorder-associated mutations lead to functional inactivation of neuroligins. Hum Mol Genet 13: 1471-7 PubMed GONUTS page
↑ Sand P et al. (2006) Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia. Schizophr Res 82: 277-8 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Fabrichny IP et al. (2007) Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion. Neuron 56: 979-91 PubMed GONUTS page
↑ Jamain S et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34: 27-9 PubMed GONUTS page
↑ Graf ER et al. (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 119: 1013-26 PubMed GONUTS page
↑ Laumonnier F et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74: 552-7 PubMed GONUTS page

[PMID:19726642-0] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 Zhang C et al. (2009) A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci 29: 10843-54 PubMed GONUTS page

[PMID:18227507-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Jamain S et al. (2008) Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc Natl Acad Sci U S A 105: 1710-5 PubMed GONUTS page

[PMID:11368788-2] 3.0 ^3.1 ^3.2 ^3.3 Bolliger MF et al. (2001) Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression. Biochem J 356: 581-8 PubMed GONUTS page

[PMID:17292328-3] 4.0 ^4.1 Yamakawa H et al. (2007) Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations. Biochem Biophys Res Commun 355: 41-6 PubMed GONUTS page

[PMID:15150161-4] 5.0 ^5.1 Chih B et al. (2004) Disorder-associated mutations lead to functional inactivation of neuroligins. Hum Mol Genet 13: 1471-7 PubMed GONUTS page

[PMID:16377159-5] Sand P et al. (2006) Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia. Schizophr Res 82: 277-8 PubMed GONUTS page

[PMID:18093521-6] 7.0 ^7.1 ^7.2 Fabrichny IP et al. (2007) Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion. Neuron 56: 979-91 PubMed GONUTS page

[PMID:12669065-7] Jamain S et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34: 27-9 PubMed GONUTS page

[PMID:15620359-8] Graf ER et al. (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 119: 1013-26 PubMed GONUTS page

[PMID:14963808-9] Laumonnier F et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74: 552-7 PubMed GONUTS page

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HUMAN:NLGNX

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