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Q9NZ94 (NLGN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 16, 2012. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuroligin-3
Alternative name(s):
Gliotactin homolog
Gene names
Name:NLGN3
Synonyms:KIAA1480, NL3
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length848 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (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 structure

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. Ref.5

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Expressed in the blood vessel walls (at protein level). Ref.6

Involvement in disease

Defects in NLGN3 may be the cause of susceptibility to autism X-linked type 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. Ref.7

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. Ref.7

Sequence similarities

Belongs to the type-B carboxylesterase/lipase family.

Sequence caution

The sequence AAF71231.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA96004.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAC11226.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processaxon extension

Inferred from sequence or structural similarity. Source: BHF-UCL

neuron cell-cell adhesion

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of synapse assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

presynaptic membrane assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

receptor-mediated endocytosis

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of inhibitory postsynaptic membrane potential

Inferred from sequence or structural similarity. Source: BHF-UCL

rhythmic synaptic transmission

Inferred from sequence or structural similarity. Source: BHF-UCL

social behavior

Inferred from mutant phenotype Ref.7. Source: UniProtKB

   Cellular componentcell surface

Inferred from direct assay PubMed 15150161PubMed 17292328. Source: UniProtKB

endocytic vesicle

Inferred from sequence or structural similarity. Source: BHF-UCL

excitatory synapse

Inferred from direct assay PubMed 15620359. Source: BHF-UCL

integral to plasma membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular functioncell adhesion molecule binding

Inferred from sequence or structural similarity PubMed 15152050. Source: BHF-UCL

neurexin family protein binding

Inferred from sequence or structural similarity PubMed 15152050. Source: BHF-UCL

receptor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZ94-1)

Also known as: HNL3s;

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.
Isoform 2 (identifier: Q9NZ94-2)

Also known as: HNL3;

The sequence of this isoform differs from the canonical sequence as follows:
     153-172: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3737 Potential
Chain38 – 848811Neuroligin-3
PRO_0000008645

Regions

Topological domain38 – 709672Extracellular Potential
Transmembrane710 – 73021Helical; Potential
Topological domain731 – 848118Cytoplasmic Potential

Amino acid modifications

Modified residue7921Phosphotyrosine By similarity
Glycosylation981N-linked (GlcNAc...) Potential
Glycosylation5451N-linked (GlcNAc...) Potential
Disulfide bond106 ↔ 141 By similarity
Disulfide bond340 ↔ 351 By similarity
Disulfide bond510 ↔ 544 By similarity

Natural variations

Alternative sequence153 – 17220Missing in isoform 2.
VSP_007534
Natural variant4511R → C in AUTSX1 and ASPGX1. Ref.7
VAR_015668

Experimental info

Sequence conflict2241L → P in AAF71230. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (HNL3s) [UniParc].

Last modified May 23, 2003. Version 2.
Checksum: B3EE2FAB7E427C82

FASTA84893,895
        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

« Hide

Isoform 2 (HNL3) [UniParc].

Checksum: B72E4F3472678692
Show »

FASTA82891,570

References

« Hide 'large scale' references
[1]"The structure and expression of the human neuroligin-3 gene."
Philibert R.A., Winfield S.L., Sandhu H.K., Martin B.M., Ginns E.I.
Gene 246:303-310(2000) [PubMed: 10767552] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-848.
Tissue: Brain.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-848.
[5]"Binding of neuroligins to PSD-95."
Irie M., Hata Y., Takeuchi M., Ichtchenko K., Toyoda A., Hirao K., Takai Y., Rosahl T.W., Suedhof T.C.
Science 277:1511-1515(1997) [PubMed: 9278515] [Abstract]
Cited for: INTERACTION WITH DLG4.
[6]"The synaptic proteins neurexins and neuroligins are widely expressed in the vascular system and contribute to its functions."
Bottos A., Destro E., Rissone A., Graziano S., Cordara G., Assenzio B., Cera M.R., Mascia L., Bussolino F., Arese M.
Proc. Natl. Acad. Sci. U.S.A. 106:20782-20787(2009) [PubMed: 19926856] [Abstract]
Cited for: TISSUE SPECIFICITY.
[7]"Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism."
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. expand/collapse author list , 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.
Nat. Genet. 34:27-29(2003) [PubMed: 12669065] [Abstract]
Cited for: VARIANT AUTSX1 CYS-451, VARIANT ASPGX1 CYS-451.
+Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF217411 mRNA. Translation: AAF71230.1.
AF217412 mRNA. Translation: AAF71231.1. Sequence problems.
AF217413 Genomic DNA. Translation: AAF71232.1.
AF217413 Genomic DNA. Translation: AAF71233.1.
CH471132 Genomic DNA. Translation: EAX05308.1.
CH471132 Genomic DNA. Translation: EAX05310.1.
AB040913 mRNA. Translation: BAA96004.1. Different initiation.
AK074814 mRNA. Translation: BAC11226.1. Different initiation.
IPIIPI00002307.
IPI00184861.
RefSeqNP_001160132.1. NM_001166660.1.
NP_061850.2. NM_018977.3.
NP_851820.1. NM_181303.1.
UniGeneHs.438877.

3D structure databases

ProteinModelPortalQ9NZ94.
SMRQ9NZ94. Positions 39-633.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9NZ94. 1 interaction.
STRINGQ9NZ94.

Protein family/group databases

MEROPSS09.987.

PTM databases

PhosphoSiteQ9NZ94.

Polymorphism databases

DMDM31076855.

Proteomic databases

PRIDEQ9NZ94.

Protocols and materials databases

DNASU54413.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358741; ENSP00000351591; ENSG00000196338.
GeneID54413.
KEGGhsa:54413.
UCSCuc004dzb.3. human.
uc004dzd.2. human.

Organism-specific databases

CTD54413.
GeneCardsGC0XP070364.
HGNCHGNC:14289. NLGN3.
HPAHPA003183.
MIM300336. gene.
300425. phenotype.
300494. phenotype.
neXtProtNX_Q9NZ94.
Orphanet1162. Asperger syndrome.
106. Autism.
PharmGKBPA31649.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2272.
GeneTreeENSGT00600000084208.
HOVERGENHBG008839.
InParanoidQ9NZ94.
KOK07378.
OMAECARKPN.
PhylomeDBQ9NZ94.

Gene expression databases

ArrayExpressQ9NZ94.
BgeeQ9NZ94.
CleanExHS_NLGN3.
GenevestigatorQ9NZ94.
GermOnlineENSG00000196338. Homo sapiens.

Family and domain databases

InterProIPR002018. CarbesteraseB.
IPR019819. Carboxylesterase_B_CS.
IPR000460. Neuroligin.
[Graphical view]
PfamPF00135. COesterase. 1 hit.
[Graphical view]
PRINTSPR01090. NEUROLIGIN.
PROSITEPS00941. CARBOXYLESTERASE_B_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio56617.
SOURCESearch...

Entry information

Entry nameNLGN3_HUMAN
AccessionPrimary (citable) accession number: Q9NZ94
Secondary accession number(s): D3DVV0 expand/collapse secondary AC list , Q8NCD0, Q9NZ95, Q9NZ96, Q9NZ97, Q9P248
Entry history
Integrated into UniProtKB/Swiss-Prot: May 23, 2003
Last sequence update: May 23, 2003
Last modified: May 16, 2012
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

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