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UniProtKB/Swiss-Prot entry Q8N0W4


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name NLGNX_HUMAN
Primary accession number Q8N0W4
Secondary accession numbers Q6UX10 Q9ULG0
Integrated into Swiss-Prot on May 23, 2003
Sequence was last modified on October 1, 2002 (Sequence version 1)
Annotations were last modified on    December 16, 2008 (Entry version 59)
Name and origin of the protein
Protein name Neuroligin-4, X-linked [Precursor]
Synonyms Neuroligin X
HNLX
Gene name
Name: NLGN4X
Synonyms: KIAA1260, NLGN4
ORFNames: UNQ365/PRO701
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND DISEASE.
DOI=10.1038/ng1136; PubMed=12669065 [NCBI, ExPASy, EBI, Israel, Japan]
Jamain S., Quach H., Betancur C., Rastam M., Colineaux C., Gillberg I.C., Soderstrom H., Giros B., Leboyer M., Gillberg C., Bourgeron T., Nyden A., Philippe A., Cohen D., Chabane N., Mouren-Simeoni M.C., Brice A., Sponheim E., Spurkland I., Skjeldal O.H., Coleman M., Pearl P.L., Cohen I.L., Tsiouris J., Zappella M., Menchetti G., Pompella A., Aschauer H., Van Maldergem L.;
"Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.";
Nat. Genet. 34:27-29(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1093/dnares/6.5.337; PubMed=10574462 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
"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.";
DNA Res. 6:337-345(1999).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-816 (ISOFORM 2).
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[5]
PROTEIN SEQUENCE OF 42-56.
DOI=10.1110/ps.04682504; PubMed=15340161 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Z., Henzel W.J.;
"Signal peptide prediction based on analysis of experimentally verified cleavage sites.";
Protein Sci. 13:2819-2824(2004).
[6]
INTERACTION WITH DLG4.
DOI=10.1126/science.277.5331.1511; PubMed=9278515 [NCBI, ExPASy, EBI, Israel, Japan]
Irie M., Hata Y., Takeuchi M., Ichtchenko K., Toyoda A., Hirao K., Takai Y., Rosahl T.W., Suedhof T.C.;
"Binding of neuroligins to PSD-95.";
Science 277:1511-1515(1997).
[7]
INTERACTION WITH DLG4, AND TISSUE SPECIFICITY.
DOI=10.1042/0264-6021:3560581; PubMed=11368788 [NCBI, ExPASy, EBI, Israel, Japan]
Bolliger M.F., Frei K., Winterhalter K.H., Gloor S.M.;
"Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression.";
Biochem. J. 356:581-588(2001).
[8]
INVOLVEMENT IN ATSX2 AND ASPGX2.
DOI=10.1086/382137; PubMed=14963808 [NCBI, ExPASy, EBI, Israel, Japan]
Laumonnier F., Bonnet-Brilhault F., Gomot M., Blanc R., David A., Moizard M.-P., Raynaud M., Ronce N., Lemonnier E., Calvas P., Laudier B., Chelly J., Fryns J.-P., Ropers H.-H., Hamel B.C.J., Andres C., Barthelemy C., Moraine C., Briault S.;
"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. 74:552-557(2004).
[9]
VARIANT [LARGE SCALE ANALYSIS] SER-214.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
  • FUNCTION: Putative neuronal cell surface protein involved in cell-cell-interactions.
  • SUBUNIT: Interacts through its C-terminus with DLG4/PSD-95 third PDZ domain.
  • SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDQ8N0W4-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDQ8N0W4-2
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_013270.
  • TISSUE SPECIFICITY: Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancreas and at very low levels in brain.
  • DISEASE: Defects in NLGN4X may be the cause of susceptibility to X-linked autism 2 (AUTSX2) [MIM:300495]. AUTSX2 is a pervasive developmental disorder (PDD), prototypically 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.
  • DISEASE: Defects in NLGN4X may be the cause of susceptibility to X-linked Asperger syndrome 2 (ASPGX2) [MIM:300497]. ASPGX2 is considered to be a form of childhood autism.
  • SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=NLGN4X";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF376803; AAM46112.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB033086; BAA86574.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC034018; AAH34018.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY358562; AAQ88925.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_065793.1; -.
NP_851849.1; -.
UniGene Hs.21107
3D structure databases
PDB
2VH8; X-ray; 3.90 A; A/B=43-597.[ExPASy / RCSB / EBI]
3BE8; X-ray; 2.20 A; A/B=43-619.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 2VH8; -.
3BE8; -.
ModBase Q8N0W4.
Protein family/group databases
MEROPS S09.988; -.
PTM databases
PhosphoSite Q8N0W4; -.
Organism-specific databases
GeneCards GC0XM005818; -.
H-InvDB HIX0016638; -.
HGNC HGNC:14287; NLGN4X.
GenAtlas NLGN4X.
HPA HPA001651; -.
MIM 300427; gene. [NCBI / EBI]
300495; phenotype. [NCBI / EBI]
300497; phenotype. [NCBI / EBI]
Orphanet 1162; Asperger syndrome.
106; Autism.
PharmGKB PA31650; -.
GeneCards Q8N0W4.
HUGE KIAA1260.
Gene expression databases
ArrayExpress Q8N0W4; -.
CleanEx HS_NLGN4X; -.
GermOnline ENSG00000146938; Homo sapiens.
Ontologies
GO
GO:0009986; Cellular component: cell surface (inferred from direct assay from UniProtKB).
GO:0005887; Cellular component: integral to plasma membrane (inferred from direct assay from UniProtKB).
GO:0005634; Cellular component: nucleus (inferred from direct assay from HPA).
GO:0031404; Molecular function: chloride ion binding (inferred from direct assay from UniProtKB).
GO:0042043; Molecular function: neurexin binding (inferred from physical interaction from UniProtKB).
GO:0042803; Molecular function: protein homodimerization activity (inferred from direct assay from UniProtKB).
GO:0007155; Biological process: cell adhesion (inferred from electronic annotation from InterPro).
GO:0045216; Biological process: cell-cell junction organization (non-traceable author statement from UniProtKB).
GO:0035176; Biological process: social behavior (inferred from mutant phenotype from UniProtKB).
GO:0050808; Biological process: synapse organization (inferred from mutant phenotype from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR002018; CarbesteraseB.
IPR000460; Neuroligin.
Graphical view of domain structure.
PANTHER PTHR11559; CarbesteraseB; 1.
Pfam PF00135; COesterase; 1.
Pfam graphical view of domain structure.
PRINTS PR01090; NEUROLIGIN.
PROSITE PS00941; CARBOXYLESTERASE_B_2; 1.
Proteomics databases
PRIDE Q8N0W4; -.
Genome annotation databases
Ensembl ENSG00000146938; Homo sapiens. [Contig view]
GeneID 57502; -.
KEGG hsa:57502; -.
Phylogenomic databases
HOVERGEN Q8N0W4; -.
Other
NextBio 63827; -.
SOURCE NLGN4X; Homo sapiens.
ProtoNet Q8N0W4.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; Cell adhesion; Direct protein sequencing; Glycoprotein; Membrane; Polymorphism; Signal; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    41  41      
CHAIN   42   816  775     Neuroligin-4, X-linked. PRO_0000008648
TOPO_DOM   42   676  635     Extracellular (Potential). 
TRANSMEM   677   697  21     Potential. 
TOPO_DOM   698   816  119     Cytoplasmic (Potential). 
CARBOHYD   102   102        N-linked (GlcNAc...) (Potential). 
CARBOHYD   511   511        N-linked (GlcNAc...) (Potential). 
DISULFID   110   146        By similarity. 
DISULFID   306   317        By similarity. 
DISULFID   476   510        By similarity. 
VAR_SEQ   157   157        D -> DGANTKKNADDITSNDRGEDE (in isoform 2). VSP_013270
VARIANT   214   214  1     G -> S (in a colorectal cancer sample; somatic mutation). VAR_036576 [3D]
CONFLICT   456   456        Missing (in Ref. 4). 
STRAND   47    50  4      
STRAND   53    56  4      
STRAND   58    60  3      
STRAND   70    77  8      
HELIX   84    86  3      
STRAND   98   102  5      
HELIX   119   122  4      
HELIX   128   134  7      
HELIX   136   140  5      
STRAND   148   154  7      
STRAND   166   172  7      
TURN   176   178  3      
HELIX   182   184  3      
HELIX   188   194  7      
STRAND   197   201  5      
HELIX   206   210  5      
HELIX   222   237  16      
HELIX   238   241  4      
STRAND   243   253  11      
HELIX   255   263  9      
HELIX   267   269  3      
STRAND   274   280  7      
STRAND   283   285  3      
TURN   286   288  3      
HELIX   293   303  11      
HELIX   311   319  9      
HELIX   323   327  5      
STRAND   339   341  3      
STRAND   346   349  4      
HELIX   353   358  6      
HELIX   361   364  4      
STRAND   365   372  8      
TURN   373   376  4      
HELIX   377   380  4      
TURN   381   383  3      
HELIX   392   406  15      
HELIX   413   423  11      
HELIX   433   448  16      
HELIX   450   461  12      
STRAND   467   472  6      
TURN   489   492  4      
HELIX   493   496  4      
HELIX   499   501  3      
STRAND   505   507  3      
HELIX   514   533  20      
TURN   564   566  3      
STRAND   568   575  8      
STRAND   577   581  5      
HELIX   584   591  8      
HELIX   594   596  3      
Sequence information
Length: 816 AA [This is the length of the unprocessed precursor] Molecular weight: 91915 Da [This is the MW of the unprocessed precursor] CRC64: EA1320D690F76BBD [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSRPQGLLWL PLLFTPVCVM LNSNVLLWLT ALAIKFTLID SQAQYPVVNT NYGKIRGLRT 

        70         80         90        100        110        120 
PLPNEILGPV EQYLGVPYAS PPTGERRFQP PEPPSSWTGI RNTTQFAAVC PQHLDERSLL 

       130        140        150        160        170        180 
HDMLPIWFTA NLDTLMTYVQ DQNEDCLYLN IYVPTEDDIH DQNSKKPVMV YIHGGSYMEG 

       190        200        210        220        230        240 
TGNMIDGSIL ASYGNVIVIT INYRLGILGF LSTGDQAAKG NYGLLDQIQA LRWIEENVGA 

       250        260        270        280        290        300 
FGGDPKRVTI FGSGAGASCV SLLTLSHYSE GLFQKAIIQS GTALSSWAVN YQPAKYTRIL 

       310        320        330        340        350        360 
ADKVGCNMLD TTDMVECLRN KNYKELIQQT ITPATYHIAF GPVIDGDVIP DDPQILMEQG 

       370        380        390        400        410        420 
EFLNYDIMLG VNQGEGLKFV DGIVDNEDGV TPNDFDFSVS NFVDNLYGYP EGKDTLRETI 

       430        440        450        460        470        480 
KFMYTDWADK ENPETRRKTL VALFTDHQWV APAVATADLH AQYGSPTYFY AFYHHCQSEM 

       490        500        510        520        530        540 
KPSWADSAHG DEVPYVFGIP MIGPTELFSC NFSKNDVMLS AVVMTYWTNF AKTGDPNQPV 

       550        560        570        580        590        600 
PQDTKFIHTK PNRFEEVAWS KYNPKDQLYL HIGLKPRVRD HYRATKVAFW LELVPHLHNL 

       610        620        630        640        650        660 
NEIFQYVSTT TKVPPPDMTS FPYGTRRSPA KIWPTTKRPA ITPANNPKHS KDPHKTGPED 

       670        680        690        700        710        720 
TTVLIETKRD YSTELSVTIA VGASLLFLNI LAFAALYYKK DKRRHETHRR PSPQRNTTND 

       730        740        750        760        770        780 
IAHIQNEEIM SLQMKQLEHD HECESLQAHD TLRLTCPPDY TLTLRRSPDD IPLMTPNTIT 

       790        800        810 
MIPNTLTGMQ PLHTFNTFSG GQNSTNLPHG HSTTRV 

Q8N0W4 in FASTA format

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