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HUMAN:NLGNX

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) NLGN4X (synonyms: KIAA1260, NLGN4)
Protein Name(s) Neuroligin-4, X-linked

Neuroligin X HNLX

External Links
UniProt Q8N0W4
EMBL AF376803
AB033086
BC034018
AY358562
CCDS CCDS14126.1
RefSeq NP_001269074.1
NP_001269075.1
NP_065793.1
NP_851849.1
XP_005274621.1
XP_005274622.1
XP_005274623.1
XP_005274625.1
XP_006724567.1
UniGene Hs.21107
PDB 2WQZ
2XB6
3BE8
PDBsum 2WQZ
2XB6
3BE8
ProteinModelPortal Q8N0W4
SMR Q8N0W4
BioGrid 121567
IntAct Q8N0W4
STRING 9606.ENSP00000275857
MEROPS S09.988
PhosphoSite Q8N0W4
DMDM 31076821
PaxDb Q8N0W4
PRIDE Q8N0W4
DNASU 57502
Ensembl ENST00000275857
ENST00000381092
ENST00000381093
ENST00000381095
GeneID 57502
KEGG hsa:57502
UCSC uc004crp.3
uc004crq.3
CTD 57502
GeneCards GC0XM005758
GeneReviews NLGN4X
HGNC HGNC:14287
HPA HPA001651
MIM 300427
300495
300497
neXtProt NX_Q8N0W4
Orphanet 1162
106
PharmGKB PA31650
eggNOG COG2272
GeneTree ENSGT00760000118946
HOGENOM HOG000231424
HOVERGEN HBG008839
InParanoid Q8N0W4
KO K07378
OMA DDIHDQN
OrthoDB EOG7RBZ7R
PhylomeDB Q8N0W4
TreeFam TF326187
ChiTaRS NLGN4X
EvolutionaryTrace Q8N0W4
GeneWiki NLGN4X
GenomeRNAi 57502
NextBio 63827
PRO PR:Q8N0W4
Proteomes UP000005640
Bgee Q8N0W4
CleanEx HS_NLGN4X
ExpressionAtlas Q8N0W4
Genevestigator Q8N0W4
GO GO:0030054
GO:0009986
GO:0030425
GO:0060076
GO:0016021
GO:0005887
GO:0005886
GO:0014069
GO:0045211
GO:0045202
GO:0050839
GO:0031404
GO:0042043
GO:0042803
GO:0004872
GO:0030534
GO:0003360
GO:0045216
GO:0021549
GO:0007612
GO:0090394
GO:0007158
GO:0030182
GO:0035265
GO:0097105
GO:0035176
GO:0050808
GO:0071625
Gene3D 3.40.50.1820
InterPro IPR029058
IPR002018
IPR019819
IPR000460
IPR030025
PANTHER PTHR11559:SF195
Pfam PF00135
PRINTS PR01090
SUPFAM SSF53474
PROSITE PS00941

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0005886

plasma membrane

PMID:19726642[1]

ECO:0000314

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:0009986

cell surface

PMID:19726642[1]

ECO:0000314

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]

ECO:0000314

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]

ECO:0000314

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]

ECO:0000314

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]

ECO:0000314

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]

ECO:0000314

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

enables

GO:0097110

scaffold protein binding

PMID:17292328[2]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9NY99

F

Seeded From UniProt

complete

enables

GO:0097110

scaffold protein binding

PMID:11368788[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P31016

F

Seeded From UniProt

complete

involved_in

GO:0097105

presynaptic membrane assembly

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0090394

negative regulation of excitatory postsynaptic potential

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071625

vocalization behavior

PMID:19726642[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071625

vocalization behavior

PMID:12669065[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071625

vocalization behavior

PMID:18227507[5]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:B0F2B4

P

Seeded From UniProt

complete

part_of

GO:0060076

excitatory synapse

PMID:15620359[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:18227507[5]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:B0F2B4

C

Seeded From UniProt

complete

enables

GO:0042043

neurexin family protein binding

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0035265

organ growth

PMID:18227507[5]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:B0F2B4

P

Seeded From UniProt

complete

involved_in

GO:0035176

social behavior

PMID:19726642[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030534

adult behavior

PMID:12669065[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0030425

dendrite

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0030182

neuron differentiation

PMID:21278334[7]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0021549

cerebellum development

PMID:18227507[5]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:B0F2B4

P

Seeded From UniProt

complete

part_of

GO:0009986

cell surface

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0007612

learning

PMID:12669065[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:19726642[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0003360

brainstem development

PMID:18227507[5]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:B0F2B4

P

Seeded From UniProt

complete

involved_in

GO:0050808

synapse organization

PMID:15150161[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050808

synapse organization

PMID:11368788[3]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045216

cell-cell junction organization

PMID:11368788[3]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:18093521[9]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042043

neurexin family protein binding

PMID:18093521[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q63373

F

Seeded From UniProt

complete

involved_in

GO:0035176

social behavior

PMID:12669065[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0031404

chloride ion binding

PMID:18093521[9]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

PMID:16377159[10]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0009986

cell surface

PMID:15150161[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0009986

cell surface

PMID:17292328[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:11368788[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0097105

presynaptic membrane assembly

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
MGI:MGI:2681835
PANTHER:PTN000168538
RGD:621117
RGD:621118
RGD:621119
UniProtKB:Q8N0W4

P

Seeded From UniProt

complete

involved_in

GO:0097104

postsynaptic membrane assembly

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
MGI:MGI:2444609
MGI:MGI:2681835
PANTHER:PTN000168538

P

Seeded From UniProt

complete

involved_in

GO:0050804

modulation of chemical synaptic transmission

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
MGI:MGI:2444609
MGI:MGI:2681835
PANTHER:PTN000168538
RGD:621117

P

Seeded From UniProt

complete

involved_in

GO:0048488

synaptic vesicle endocytosis

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0083963
PANTHER:PTN000168538

P

Seeded From UniProt

complete

part_of

GO:0045202

synapse

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
MGI:MGI:2681835
MGI:MGI:3775191
PANTHER:PTN000168538
RGD:621117
RGD:621119
WB:WBGene00006412

C

Seeded From UniProt

complete

enables

GO:0042043

neurexin family protein binding

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0031866
MGI:MGI:2179435
MGI:MGI:2681835
PANTHER:PTN000168538
RGD:621117
RGD:621119
UniProtKB:Q8N0W4

F

Seeded From UniProt

complete

enables

GO:0038023

signaling receptor activity

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000168538
RGD:621117
RGD:621119

F

Seeded From UniProt

complete

part_of

GO:0009986

cell surface

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
PANTHER:PTN000168538
RGD:621117
RGD:621118
RGD:621119
UniProtKB:Q8N0W4
UniProtKB:Q9NZ94

C

Seeded From UniProt

complete

involved_in

GO:0007158

neuron cell-cell adhesion

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
PANTHER:PTN000168538
RGD:621117
RGD:621118
RGD:621119

P

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:21873635[11]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2179435
PANTHER:PTN000168538
UniProtKB:Q8N0W4

C

Seeded From UniProt

complete

part_of

GO:0098793

presynapse

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0048488

C

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030025

C

Seeded From UniProt

complete

involved_in

GO:0007155

cell adhesion

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030025

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR000460

C

Seeded From UniProt

complete

enables

GO:0042043

neurexin family protein binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR000460
InterPro:IPR030025

F

Seeded From UniProt

complete

part_of

GO:0045202

synapse

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030025

C

Seeded From UniProt

complete

involved_in

GO:0050808

synapse organization

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030025

P

Seeded From UniProt

complete

enables

GO:0050839

cell adhesion molecule binding

PMID:18923512[12]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0007158

neuron cell-cell adhesion

PMID:18923512[12]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0098985

asymmetric, glutamatergic, excitatory synapse

PMID:21838267[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0098983

symmetric, GABA-ergic, inhibitory synapse

PMID:21838267[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0089717

spanning component of membrane

PMID:21838267[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0099054

presynapse assembly

PMID:21838267[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-6797568
Reactome:R-HSA-6797554
Reactome:R-HSA-6794346

ECO:0000304

author statement supported by traceable reference used in manual assertion



C

Seeded From UniProt

complete

part_of

GO:0045202

synapse

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0770

C

Seeded From UniProt

complete

part_of

GO:0045211

postsynaptic membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0628

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0030054

cell junction

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0965

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

involved_in

GO:0007155

cell adhesion

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0130

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0014069

postsynaptic density

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0297

C

Seeded From UniProt

complete

edit table

Notes

References

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

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 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. ↑ 2.0 2.1 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
  3. ↑ 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. ↑ 4.0 4.1 4.2 4.3 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
  5. ↑ 5.0 5.1 5.2 5.3 5.4 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
  6. ↑ Graf, ER et al. (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 119 1013-26 PubMed GONUTS page
  7. ↑ Kim, JE et al. (2011) Investigating synapse formation and function using human pluripotent stem cell-derived neurons. Proc. Natl. Acad. Sci. U.S.A. 108 3005-10 PubMed GONUTS page
  8. ↑ 8.0 8.1 Chih, B et al. (2004) Disorder-associated mutations lead to functional inactivation of neuroligins. Hum. Mol. Genet. 13 1471-7 PubMed GONUTS page
  9. ↑ 9.0 9.1 9.2 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
  10. ↑ 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
  11. ↑ 11.0 11.1 11.2 11.3 11.4 11.5 11.6 11.7 11.8 11.9 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  12. ↑ 12.0 12.1 Südhof, TC (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455 903-11 PubMed GONUTS page
  13. ↑ 13.0 13.1 13.2 13.3 Dinamarca, MC et al. (2011) The synaptic protein neuroligin-1 interacts with the amyloid β-peptide. Is there a role in Alzheimer's disease? Biochemistry 50 8127-37 PubMed GONUTS page
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