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UniProtKB/Swiss-Prot entry Q9NZ94


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

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Entry information
Entry name NLGN3_HUMAN
Primary accession number Q9NZ94
Secondary accession numbers Q8NCD0 Q9NZ95 Q9NZ96 Q9NZ97 Q9P248
Integrated into Swiss-Prot on May 23, 2003
Sequence was last modified on May 23, 2003 (Sequence version 2)
Annotations were last modified on    June 10, 2008 (Entry version 61)
Name and origin of the protein
Protein name Neuroligin-3 [Precursor]
Synonym Gliotactin homolog
Gene name
Name: NLGN3
Synonyms: KIAA1480, NL3
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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
DOI=10.1016/S0378-1119(00)00049-4; PubMed=10767552 [NCBI, ExPASy, EBI, Israel, Japan]
Philibert R.A., Winfield S.L., Sandhu H.K., Martin B.M., Ginns E.I.;
"The structure and expression of the human neuroligin-3 gene.";
Gene 246:303-310(2000).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-848.
TISSUE=Brain;
DOI=10.1093/dnares/7.2.143; PubMed=10819331 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.";
DNA Res. 7:143-150(2000).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-848.
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
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).
[5]
VARIANT AUTSX1/ASPGX1 CYS-451.
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).
Comments
  • FUNCTION: Neuronal cell surface protein thought to be involved in cell-cell-interactions by forming intercellular junctions through binding to beta-neurexins. May play a role in formation or maintenance of synaptic junctions. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system.
  • SUBUNIT: Interacts with neurexin 1-beta, neurexin 2-beta and neurexin 3-beta (By similarity). Probably 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
    SynonymsHNL3s
    Isoform IDQ9NZ94-1
    This is the isoform sequence displayed in this entry.
    Name2
    SynonymsHNL3
    Isoform IDQ9NZ94-2
    Features which should be applied to build the isoform sequence: VSP_007534.
  • DISEASE: Defects in NLGN3 may be the cause of susceptibility to X-linked autism 1 (AUTSX1) [MIM:300425]. AUTSX1 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 NLGN3 may be the cause of susceptibility to X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]. ASPGX1 is considered to be a form of childhood autism.
  • SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.
  • SEQUENCE CAUTION:
    • Sequence=AAF71231.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=NLGN3";.
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
AF217411; AAF71230.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF217412; AAF71231.1; ALT_SEQ; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF217413; AAF71232.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF217413; AAF71233.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB040913; BAA96004.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK074814; BAC11226.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
UniGene Hs.438877
3D structure databases
HSSP P19835; 1JMY. [HSSP ENTRY / PDB]
ModBase Q9NZ94.
Protein family/group databases
MEROPS S09.987; -.
PTM databases
PhosphoSite Q9NZ94; -.
Organism-specific databases
H-InvDB HIX0016859; -.
HGNC HGNC:14289; NLGN3.
GeneLynx NLGN3; Homo sapiens.
GenAtlas NLGN3.
HPA HPA003183; -.
MIM 300336; gene. [NCBI / EBI]
300425; phenotype. [NCBI / EBI]
300494; phenotype. [NCBI / EBI]
Orphanet 1162; Asperger syndrome.
106; Autism.
PharmGKB PA31649; -.
GeneCards Q9NZ94.
HUGE KIAA1480.
Gene expression databases
ArrayExpress Q9NZ94; -.
CleanEx HS_NLGN3; -.
GermOnline ENSG00000196338; Homo sapiens.
Ontologies
GO
GO:0042043; Molecular function: neurexin binding (traceable author statement from UniProtKB).
GO:0007155; Biological process: cell adhesion (traceable author statement from ProtInc).
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.
BLOCKS Q9NZ94.
Genome annotation databases
Ensembl ENSG00000196338; Homo sapiens. [Contig view]
Phylogenomic databases
HOGENOM Q9NZ94; -.
HOVERGEN Q9NZ94; -.
Other
LinkHub Q9NZ94; -.
SOURCE NLGN3; Homo sapiens.
ProtoNet Q9NZ94.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cell adhesion; Disease mutation; Glycoprotein; Membrane; Phosphoprotein; Signal; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    37  37     Potential. 
CHAIN   38   848  811     Neuroligin-3. PRO_0000008645
TOPO_DOM   38   709  672     Extracellular (Potential). 
TRANSMEM   710   730  21     Potential. 
TOPO_DOM   731   848  118     Cytoplasmic (Potential). 
MOD_RES   792   792        Phosphotyrosine (By similarity). 
CARBOHYD   98    98        N-linked (GlcNAc...) (Potential). 
CARBOHYD   545   545        N-linked (GlcNAc...) (Potential). 
DISULFID   106   141        By similarity. 
DISULFID   340   351        By similarity. 
DISULFID   510   544        By similarity. 
VAR_SEQ   153   172        Missing (in isoform 2). VSP_007534
VARIANT   451   451  1     R -> C (in AUTSX1 and ASPGX1). VAR_015668 [3D]
CONFLICT   224   224        L -> P (in Ref. 1; AAF71230). 
Sequence information
Length: 848 AA [This is the length of the unprocessed precursor] Molecular weight: 93895 Da [This is the MW of the unprocessed precursor] CRC64: B3EE2FAB7E427C82 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MWLRLGPPSL SLSPKPTVGR SLCLTLWFLS LALRASTQAP APTVNTHFGK LRGARVPLPS 

        70         80         90        100        110        120 
EILGPVDQYL GVPYAAPPIG EKRFLPPEPP PSWSGIRNAT HFPPVCPQNI HTAVPEVMLP 

       130        140        150        160        170        180 
VWFTANLDIV ATYIQEPNED CLYLNVYVPT EDVKRISKEC ARKPNKKICR KGGSGAKKQG 

       190        200        210        220        230        240 
EDLADNDGDE DEDIRDSGAK PVMVYIHGGS YMEGTGNMID GSILASYGNV IVITLNYRVG 

       250        260        270        280        290        300 
VLGFLSTGDQ AAKGNYGLLD QIQALRWVSE NIAFFGGDPR RITVFGSGIG ASCVSLLTLS 

       310        320        330        340        350        360 
HHSEGLFQRA IIQSGSALSS WAVNYQPVKY TSLLADKVGC NVLDTVDMVD CLRQKSAKEL 

       370        380        390        400        410        420 
VEQDIQPARY HVAFGPVIDG DVIPDDPEIL MEQGEFLNYD IMLGVNQGEG LKFVEGVVDP 

       430        440        450        460        470        480 
EDGVSGTDFD YSVSNFVDNL YGYPEGKDTL RETIKFMYTD WADRDNPETR RKTLVALFTD 

       490        500        510        520        530        540 
HQWVEPSVVT ADLHARYGSP TYFYAFYHHC QSLMKPAWSD AAHGDEVPYV FGVPMVGPTD 

       550        560        570        580        590        600 
LFPCNFSKND VMLSAVVMTY WTNFAKTGDP NKPVPQDTKF IHTKANRFEE VAWSKYNPRD 

       610        620        630        640        650        660 
QLYLHIGLKP RVRDHYRATK VAFWKHLVPH LYNLHDMFHY TSTTTKVPPP DTTHSSHITR 

       670        680        690        700        710        720 
RPNGKTWSTK RPAISPAYSN ENAQGSWNGD QDAGPLLVEN PRDYSTELSV TIAVGASLLF 

       730        740        750        760        770        780 
LNVLAFAALY YRKDKRRQEP LRQPSPQRGA GAPELGAAPE EELAALQLGP THHECEAGPP 

       790        800        810        820        830        840 
HDTLRLTALP DYTLTLRRSP DDIPLMTPNT ITMIPNSLVG LQTLHPYNTF AAGFNSTGLP 


HSHSTTRV 

Q9NZ94 in FASTA format

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