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Q8N0W4

- NLGNX_HUMAN

UniProt

Q8N0W4 - NLGNX_HUMAN

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Protein

Neuroligin-4, X-linked

Gene

NLGN4X

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Putative neuronal cell surface protein involved in cell-cell-interactions.

GO - Molecular functioni

  1. cell adhesion molecule binding Source: BHF-UCL
  2. chloride ion binding Source: UniProtKB
  3. neurexin family protein binding Source: UniProtKB
  4. protein homodimerization activity Source: UniProtKB
  5. receptor activity Source: RefGenome

GO - Biological processi

  1. adult behavior Source: BHF-UCL
  2. brainstem development Source: BHF-UCL
  3. cell-cell junction organization Source: UniProtKB
  4. cerebellum development Source: BHF-UCL
  5. learning Source: BHF-UCL
  6. negative regulation of excitatory postsynaptic membrane potential Source: BHF-UCL
  7. neuron cell-cell adhesion Source: BHF-UCL
  8. neuron differentiation Source: BHF-UCL
  9. organ growth Source: BHF-UCL
  10. presynaptic membrane assembly Source: BHF-UCL
  11. social behavior Source: UniProtKB
  12. synapse organization Source: UniProtKB
  13. vocalization behavior Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Protein family/group databases

MEROPSiS09.988.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroligin-4, X-linked
Short name:
Neuroligin X
Alternative name(s):
HNLX
Gene namesi
Name:NLGN4X
Synonyms:KIAA1260, NLGN4
ORF Names:UNQ365/PRO701
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:14287. NLGN4X.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. cell surface Source: UniProtKB
  3. dendrite Source: BHF-UCL
  4. excitatory synapse Source: BHF-UCL
  5. integral component of membrane Source: UniProtKB
  6. integral component of plasma membrane Source: UniProtKB
  7. plasma membrane Source: BHF-UCL
  8. postsynaptic membrane Source: UniProtKB-KW
  9. synapse Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Autism, X-linked 2 (AUTSX2) [MIM:300495]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Asperger syndrome, X-linked, 2 (ASPGX2) [MIM:300497]: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Organism-specific databases

MIMi300495. phenotype.
300497. phenotype.
Orphaneti1162. Asperger syndrome.
106. Autism.
PharmGKBiPA31650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 41411 PublicationAdd
BLAST
Chaini42 – 816775Neuroligin-4, X-linkedPRO_0000008648Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi102 – 1021N-linked (GlcNAc...)1 Publication
Disulfide bondi110 ↔ 1461 Publication
Disulfide bondi306 ↔ 3171 Publication
Disulfide bondi476 ↔ 5101 Publication
Glycosylationi511 – 5111N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8N0W4.
PRIDEiQ8N0W4.

PTM databases

PhosphoSiteiQ8N0W4.

Expressioni

Tissue specificityi

Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancreas and at very low levels in brain.1 Publication

Gene expression databases

BgeeiQ8N0W4.
CleanExiHS_NLGN4X.
ExpressionAtlasiQ8N0W4. baseline and differential.
GenevestigatoriQ8N0W4.

Organism-specific databases

HPAiHPA001651.

Interactioni

Subunit structurei

Homodimer. Interacts with NRXN1 in a calcium-dependent manner. Interacts through its C-terminus with DLG4/PSD-95 third PDZ domain.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Nrxn1Q633735EBI-2862707,EBI-1780696From a different organism.

Protein-protein interaction databases

BioGridi121567. 1 interaction.
IntActiQ8N0W4. 3 interactions.
STRINGi9606.ENSP00000275857.

Structurei

Secondary structure

1
816
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi47 – 504
Beta strandi53 – 564
Beta strandi58 – 603
Beta strandi70 – 778
Helixi84 – 863
Beta strandi98 – 1025
Turni116 – 1183
Helixi119 – 1224
Helixi128 – 1347
Helixi136 – 1405
Beta strandi148 – 1547
Beta strandi166 – 1727
Turni176 – 1783
Helixi182 – 1843
Helixi188 – 1947
Beta strandi197 – 2015
Helixi206 – 2105
Helixi222 – 23716
Helixi238 – 2414
Beta strandi243 – 25311
Helixi255 – 2639
Helixi267 – 2693
Turni270 – 2723
Beta strandi274 – 2807
Beta strandi283 – 2853
Turni286 – 2883
Helixi293 – 30311
Helixi311 – 3199
Helixi323 – 3275
Beta strandi339 – 3413
Beta strandi346 – 3494
Helixi353 – 3586
Helixi361 – 3644
Beta strandi365 – 3728
Turni373 – 3764
Helixi377 – 3804
Turni381 – 3833
Helixi392 – 40615
Beta strandi410 – 4123
Helixi413 – 42311
Helixi433 – 44816
Helixi450 – 46112
Beta strandi467 – 4726
Beta strandi478 – 4814
Turni489 – 4924
Helixi493 – 4964
Helixi499 – 5013
Beta strandi505 – 5073
Helixi514 – 53320
Turni564 – 5663
Beta strandi568 – 5758
Beta strandi577 – 5815
Helixi584 – 5918
Helixi594 – 5963

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2WQZX-ray3.90A/B43-619[»]
2XB6X-ray2.60A/B44-619[»]
3BE8X-ray2.20A/B44-619[»]
ProteinModelPortaliQ8N0W4.
SMRiQ8N0W4. Positions 41-599.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N0W4.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini42 – 676635ExtracellularSequence AnalysisAdd
BLAST
Topological domaini698 – 816119CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei677 – 69721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni359 – 3646Interaction with NRXN1

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2272.
GeneTreeiENSGT00760000118946.
HOGENOMiHOG000231424.
HOVERGENiHBG008839.
InParanoidiQ8N0W4.
KOiK07378.
OMAiHISFGPV.
OrthoDBiEOG7RBZ7R.
PhylomeDBiQ8N0W4.
TreeFamiTF326187.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR002018. CarbesteraseB.
IPR019819. Carboxylesterase_B_CS.
IPR000460. Neuroligin.
[Graphical view]
PfamiPF00135. COesterase. 1 hit.
[Graphical view]
PRINTSiPR01090. NEUROLIGIN.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS00941. CARBOXYLESTERASE_B_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N0W4) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSRPQGLLWL PLLFTPVCVM LNSNVLLWLT ALAIKFTLID SQAQYPVVNT
60 70 80 90 100
NYGKIRGLRT PLPNEILGPV EQYLGVPYAS PPTGERRFQP PEPPSSWTGI
110 120 130 140 150
RNTTQFAAVC PQHLDERSLL HDMLPIWFTA NLDTLMTYVQ DQNEDCLYLN
160 170 180 190 200
IYVPTEDDIH DQNSKKPVMV YIHGGSYMEG TGNMIDGSIL ASYGNVIVIT
210 220 230 240 250
INYRLGILGF LSTGDQAAKG NYGLLDQIQA LRWIEENVGA FGGDPKRVTI
260 270 280 290 300
FGSGAGASCV SLLTLSHYSE GLFQKAIIQS GTALSSWAVN YQPAKYTRIL
310 320 330 340 350
ADKVGCNMLD TTDMVECLRN KNYKELIQQT ITPATYHIAF GPVIDGDVIP
360 370 380 390 400
DDPQILMEQG EFLNYDIMLG VNQGEGLKFV DGIVDNEDGV TPNDFDFSVS
410 420 430 440 450
NFVDNLYGYP EGKDTLRETI KFMYTDWADK ENPETRRKTL VALFTDHQWV
460 470 480 490 500
APAVATADLH AQYGSPTYFY AFYHHCQSEM KPSWADSAHG DEVPYVFGIP
510 520 530 540 550
MIGPTELFSC NFSKNDVMLS AVVMTYWTNF AKTGDPNQPV PQDTKFIHTK
560 570 580 590 600
PNRFEEVAWS KYNPKDQLYL HIGLKPRVRD HYRATKVAFW LELVPHLHNL
610 620 630 640 650
NEIFQYVSTT TKVPPPDMTS FPYGTRRSPA KIWPTTKRPA ITPANNPKHS
660 670 680 690 700
KDPHKTGPED TTVLIETKRD YSTELSVTIA VGASLLFLNI LAFAALYYKK
710 720 730 740 750
DKRRHETHRR PSPQRNTTND IAHIQNEEIM SLQMKQLEHD HECESLQAHD
760 770 780 790 800
TLRLTCPPDY TLTLRRSPDD IPLMTPNTIT MIPNTLTGMQ PLHTFNTFSG
810
GQNSTNLPHG HSTTRV
Length:816
Mass (Da):91,915
Last modified:October 1, 2002 - v1
Checksum:iEA1320D690F76BBD
GO
Isoform 2 (identifier: Q8N0W4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-157: D → DGANTKKNADDITSNDRGEDE

Note: No experimental confirmation available.

Show »
Length:836
Mass (Da):94,047
Checksum:iF82E9A2505E6CA96
GO

Sequence cautioni

The sequence BAA86574.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti456 – 4561Missing in AAQ88925. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti214 – 2141G → S in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036576

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei157 – 1571D → DGANTKKNADDITSNDRGED E in isoform 2. 1 PublicationVSP_013270

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF376803 mRNA. Translation: AAM46112.1.
AB033086 mRNA. Translation: BAA86574.1. Different initiation.
BC034018 mRNA. Translation: AAH34018.1.
AY358562 mRNA. Translation: AAQ88925.1.
CCDSiCCDS14126.1. [Q8N0W4-1]
RefSeqiNP_001269074.1. NM_001282145.1. [Q8N0W4-1]
NP_001269075.1. NM_001282146.1. [Q8N0W4-1]
NP_065793.1. NM_020742.3. [Q8N0W4-1]
NP_851849.1. NM_181332.2. [Q8N0W4-1]
XP_005274621.1. XM_005274564.1. [Q8N0W4-2]
XP_005274622.1. XM_005274565.1. [Q8N0W4-2]
XP_005274623.1. XM_005274566.2. [Q8N0W4-2]
XP_005274625.1. XM_005274568.1. [Q8N0W4-2]
XP_006724567.1. XM_006724504.1. [Q8N0W4-2]
UniGeneiHs.21107.

Genome annotation databases

EnsembliENST00000275857; ENSP00000275857; ENSG00000146938. [Q8N0W4-1]
ENST00000381092; ENSP00000370482; ENSG00000146938. [Q8N0W4-1]
ENST00000381093; ENSP00000370483; ENSG00000146938. [Q8N0W4-1]
ENST00000381095; ENSP00000370485; ENSG00000146938. [Q8N0W4-1]
GeneIDi57502.
KEGGihsa:57502.
UCSCiuc004crp.3. human. [Q8N0W4-2]
uc004crq.3. human. [Q8N0W4-1]

Polymorphism databases

DMDMi31076821.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF376803 mRNA. Translation: AAM46112.1 .
AB033086 mRNA. Translation: BAA86574.1 . Different initiation.
BC034018 mRNA. Translation: AAH34018.1 .
AY358562 mRNA. Translation: AAQ88925.1 .
CCDSi CCDS14126.1. [Q8N0W4-1 ]
RefSeqi NP_001269074.1. NM_001282145.1. [Q8N0W4-1 ]
NP_001269075.1. NM_001282146.1. [Q8N0W4-1 ]
NP_065793.1. NM_020742.3. [Q8N0W4-1 ]
NP_851849.1. NM_181332.2. [Q8N0W4-1 ]
XP_005274621.1. XM_005274564.1. [Q8N0W4-2 ]
XP_005274622.1. XM_005274565.1. [Q8N0W4-2 ]
XP_005274623.1. XM_005274566.2. [Q8N0W4-2 ]
XP_005274625.1. XM_005274568.1. [Q8N0W4-2 ]
XP_006724567.1. XM_006724504.1. [Q8N0W4-2 ]
UniGenei Hs.21107.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2WQZ X-ray 3.90 A/B 43-619 [» ]
2XB6 X-ray 2.60 A/B 44-619 [» ]
3BE8 X-ray 2.20 A/B 44-619 [» ]
ProteinModelPortali Q8N0W4.
SMRi Q8N0W4. Positions 41-599.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121567. 1 interaction.
IntActi Q8N0W4. 3 interactions.
STRINGi 9606.ENSP00000275857.

Protein family/group databases

MEROPSi S09.988.

PTM databases

PhosphoSitei Q8N0W4.

Polymorphism databases

DMDMi 31076821.

Proteomic databases

PaxDbi Q8N0W4.
PRIDEi Q8N0W4.

Protocols and materials databases

DNASUi 57502.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000275857 ; ENSP00000275857 ; ENSG00000146938 . [Q8N0W4-1 ]
ENST00000381092 ; ENSP00000370482 ; ENSG00000146938 . [Q8N0W4-1 ]
ENST00000381093 ; ENSP00000370483 ; ENSG00000146938 . [Q8N0W4-1 ]
ENST00000381095 ; ENSP00000370485 ; ENSG00000146938 . [Q8N0W4-1 ]
GeneIDi 57502.
KEGGi hsa:57502.
UCSCi uc004crp.3. human. [Q8N0W4-2 ]
uc004crq.3. human. [Q8N0W4-1 ]

Organism-specific databases

CTDi 57502.
GeneCardsi GC0XM005758.
GeneReviewsi NLGN4X.
HGNCi HGNC:14287. NLGN4X.
HPAi HPA001651.
MIMi 300427. gene.
300495. phenotype.
300497. phenotype.
neXtProti NX_Q8N0W4.
Orphaneti 1162. Asperger syndrome.
106. Autism.
PharmGKBi PA31650.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2272.
GeneTreei ENSGT00760000118946.
HOGENOMi HOG000231424.
HOVERGENi HBG008839.
InParanoidi Q8N0W4.
KOi K07378.
OMAi HISFGPV.
OrthoDBi EOG7RBZ7R.
PhylomeDBi Q8N0W4.
TreeFami TF326187.

Miscellaneous databases

EvolutionaryTracei Q8N0W4.
GeneWikii NLGN4X.
GenomeRNAii 57502.
NextBioi 63827.
PROi Q8N0W4.
SOURCEi Search...

Gene expression databases

Bgeei Q8N0W4.
CleanExi HS_NLGN4X.
ExpressionAtlasi Q8N0W4. baseline and differential.
Genevestigatori Q8N0W4.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR002018. CarbesteraseB.
IPR019819. Carboxylesterase_B_CS.
IPR000460. Neuroligin.
[Graphical view ]
Pfami PF00135. COesterase. 1 hit.
[Graphical view ]
PRINTSi PR01090. NEUROLIGIN.
SUPFAMi SSF53474. SSF53474. 1 hit.
PROSITEi PS00941. CARBOXYLESTERASE_B_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE.
  2. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
    DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-816 (ISOFORM 2).
  5. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 42-56.
  6. Cited for: INTERACTION WITH DLG4.
  7. "Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression."
    Bolliger M.F., Frei K., Winterhalter K.H., Gloor S.M.
    Biochem. J. 356:581-588(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DLG4, TISSUE SPECIFICITY.
  8. Cited for: INVOLVEMENT IN ATSX2 AND ASPGX2.
  9. "Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion."
    Fabrichny I.P., Leone P., Sulzenbacher G., Comoletti D., Miller M.T., Taylor P., Bourne Y., Marchot P.
    Neuron 56:979-991(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 44-619 ALONE AND IN COMPLEX WITH RAT NRXN1, GLYCOSYLATION AT ASN-102 AND ASN-511, SUBUNIT, DISULFIDE BONDS.
  10. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-214.

Entry informationi

Entry nameiNLGNX_HUMAN
AccessioniPrimary (citable) accession number: Q8N0W4
Secondary accession number(s): Q6UX10, Q9ULG0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 23, 2003
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3