ID   NLGN3_HUMAN             Reviewed;         848 AA.
AC   Q9NZ94; Q8NCD0; Q9NZ95; Q9NZ96; Q9NZ97; Q9P248;
DT   23-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT   23-MAY-2003, sequence version 2.
DT   22-JUL-2008, entry version 62.
DE   RecName: Full=Neuroligin-3;
DE   AltName: Full=Gliotactin homolog;
DE   Flags: Precursor;
GN   Name=NLGN3; Synonyms=KIAA1480, NL3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
RX   MEDLINE=20231756; PubMed=10767552; DOI=10.1016/S0378-1119(00)00049-4;
RA   Philibert R.A., Winfield S.L., Sandhu H.K., Martin B.M., Ginns E.I.;
RT   "The structure and expression of the human neuroligin-3 gene.";
RL   Gene 246:303-310(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-848.
RC   TISSUE=Brain;
RX   MEDLINE=20277482; PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA   Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XVII.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 7:143-150(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-848.
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   INTERACTION WITH DLG4.
RX   MEDLINE=97426629; PubMed=9278515; DOI=10.1126/science.277.5331.1511;
RA   Irie M., Hata Y., Takeuchi M., Ichtchenko K., Toyoda A., Hirao K.,
RA   Takai Y., Rosahl T.W., Suedhof T.C.;
RT   "Binding of neuroligins to PSD-95.";
RL   Science 277:1511-1515(1997).
RN   [5]
RP   VARIANT AUTSX1/ASPGX1 CYS-451.
RX   MEDLINE=22608338; PubMed=12669065; DOI=10.1038/ng1136;
RA   Jamain S., Quach H., Betancur C., Rastam M., Colineaux C.,
RA   Gillberg I.C., Soderstrom H., Giros B., Leboyer M., Gillberg C.,
RA   Bourgeron T., Nyden A., Philippe A., Cohen D., Chabane N.,
RA   Mouren-Simeoni M.C., Brice A., Sponheim E., Spurkland I.,
RA   Skjeldal O.H., Coleman M., Pearl P.L., Cohen I.L., Tsiouris J.,
RA   Zappella M., Menchetti G., Pompella A., Aschauer H., Van Maldergem L.;
RT   "Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4
RT   are associated with autism.";
RL   Nat. Genet. 34:27-29(2003).
CC   -!- FUNCTION: Neuronal cell surface protein thought to be involved in
CC       cell-cell-interactions by forming intercellular junctions through
CC       binding to beta-neurexins. May play a role in formation or
CC       maintenance of synaptic junctions. May also play a role in glia-
CC       glia or glia-neuron interactions in the developing peripheral
CC       nervous system.
CC   -!- SUBUNIT: Interacts with neurexin 1-beta, neurexin 2-beta and
CC       neurexin 3-beta (By similarity). Probably interacts through its C-
CC       terminus with DLG4/PSD-95 third PDZ domain.
CC   -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC       protein (Potential).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1; Synonyms=HNL3s;
CC         IsoId=Q9NZ94-1; Sequence=Displayed;
CC       Name=2; Synonyms=HNL3;
CC         IsoId=Q9NZ94-2; Sequence=VSP_007534;
CC   -!- DISEASE: Defects in NLGN3 may be the cause of susceptibility to X-
CC       linked autism 1 (AUTSX1) [MIM:300425]. AUTSX1 is a pervasive
CC       developmental disorder (PDD), prototypically characterized by
CC       impairments in reciprocal social interaction and communication,
CC       restricted and stereotyped patterns of interests and activities,
CC       and the presence of developmental abnormalities by 3 years of age.
CC   -!- DISEASE: Defects in NLGN3 may be the cause of susceptibility to X-
CC       linked Asperger syndrome 1 (ASPGX1) [MIM:300494]. ASPGX1 is
CC       considered to be a form of childhood autism.
CC   -!- SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAF71231.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=NLGN3";
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DR   EMBL; AF217411; AAF71230.1; -; mRNA.
DR   EMBL; AF217412; AAF71231.1; ALT_SEQ; mRNA.
DR   EMBL; AF217413; AAF71232.1; -; Genomic_DNA.
DR   EMBL; AF217413; AAF71233.1; -; Genomic_DNA.
DR   EMBL; AB040913; BAA96004.1; ALT_INIT; mRNA.
DR   EMBL; AK074814; BAC11226.1; ALT_INIT; mRNA.
DR   UniGene; Hs.438877; -.
DR   HSSP; P19835; 1JMY.
DR   MEROPS; S09.987; -.
DR   PhosphoSite; Q9NZ94; -.
DR   Ensembl; ENSG00000196338; Homo sapiens.
DR   H-InvDB; HIX0016859; -.
DR   HGNC; HGNC:14289; NLGN3.
DR   HPA; HPA003183; -.
DR   MIM; 300336; gene.
DR   MIM; 300425; phenotype.
DR   MIM; 300494; phenotype.
DR   Orphanet; 1162; Asperger syndrome.
DR   Orphanet; 106; Autism.
DR   PharmGKB; PA31649; -.
DR   HOGENOM; Q9NZ94; -.
DR   HOVERGEN; Q9NZ94; -.
DR   LinkHub; Q9NZ94; -.
DR   ArrayExpress; Q9NZ94; -.
DR   CleanEx; HS_NLGN3; -.
DR   GermOnline; ENSG00000196338; Homo sapiens.
DR   GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR   GO; GO:0045202; C:synapse; ISS:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0035176; P:social behavior; IMP:UniProtKB.
DR   GO; GO:0050808; P:synapse organization and biogenesis; IMP:UniProtKB.
DR   InterPro; IPR002018; CarbesteraseB.
DR   InterPro; IPR000460; Neuroligin.
DR   PANTHER; PTHR11559; CarbesteraseB; 1.
DR   Pfam; PF00135; COesterase; 1.
DR   PRINTS; PR01090; NEUROLIGIN.
DR   PROSITE; PS00941; CARBOXYLESTERASE_B_2; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell adhesion; Disease mutation; Glycoprotein;
KW   Membrane; Phosphoprotein; Signal; Transmembrane.
FT   SIGNAL        1     37       Potential.
FT   CHAIN        38    848       Neuroligin-3.
FT                                /FTId=PRO_0000008645.
FT   TOPO_DOM     38    709       Extracellular (Potential).
FT   TRANSMEM    710    730       Potential.
FT   TOPO_DOM    731    848       Cytoplasmic (Potential).
FT   MOD_RES     792    792       Phosphotyrosine (By similarity).
FT   CARBOHYD     98     98       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    545    545       N-linked (GlcNAc...) (Potential).
FT   DISULFID    106    141       By similarity.
FT   DISULFID    340    351       By similarity.
FT   DISULFID    510    544       By similarity.
FT   VAR_SEQ     153    172       Missing (in isoform 2).
FT                                /FTId=VSP_007534.
FT   VARIANT     451    451       R -> C (in AUTSX1 and ASPGX1).
FT                                /FTId=VAR_015668.
FT   CONFLICT    224    224       L -> P (in Ref. 1; AAF71230).
SQ   SEQUENCE   848 AA;  93895 MW;  B3EE2FAB7E427C82 CRC64;
     MWLRLGPPSL SLSPKPTVGR SLCLTLWFLS LALRASTQAP APTVNTHFGK LRGARVPLPS
     EILGPVDQYL GVPYAAPPIG EKRFLPPEPP PSWSGIRNAT HFPPVCPQNI HTAVPEVMLP
     VWFTANLDIV ATYIQEPNED CLYLNVYVPT EDVKRISKEC ARKPNKKICR KGGSGAKKQG
     EDLADNDGDE DEDIRDSGAK PVMVYIHGGS YMEGTGNMID GSILASYGNV IVITLNYRVG
     VLGFLSTGDQ AAKGNYGLLD QIQALRWVSE NIAFFGGDPR RITVFGSGIG ASCVSLLTLS
     HHSEGLFQRA IIQSGSALSS WAVNYQPVKY TSLLADKVGC NVLDTVDMVD CLRQKSAKEL
     VEQDIQPARY HVAFGPVIDG DVIPDDPEIL MEQGEFLNYD IMLGVNQGEG LKFVEGVVDP
     EDGVSGTDFD YSVSNFVDNL YGYPEGKDTL RETIKFMYTD WADRDNPETR RKTLVALFTD
     HQWVEPSVVT ADLHARYGSP TYFYAFYHHC QSLMKPAWSD AAHGDEVPYV FGVPMVGPTD
     LFPCNFSKND VMLSAVVMTY WTNFAKTGDP NKPVPQDTKF IHTKANRFEE VAWSKYNPRD
     QLYLHIGLKP RVRDHYRATK VAFWKHLVPH LYNLHDMFHY TSTTTKVPPP DTTHSSHITR
     RPNGKTWSTK RPAISPAYSN ENAQGSWNGD QDAGPLLVEN PRDYSTELSV TIAVGASLLF
     LNVLAFAALY YRKDKRRQEP LRQPSPQRGA GAPELGAAPE EELAALQLGP THHECEAGPP
     HDTLRLTALP DYTLTLRRSP DDIPLMTPNT ITMIPNSLVG LQTLHPYNTF AAGFNSTGLP
     HSHSTTRV
//