Q9NZ94 (NLGN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 111.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Neuroligin-3 Alternative name(s): Gliotactin homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 848 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system By similarity. Ref.9 |
| Subunit structure | Interacts with NRXN1, NRXN2 and NRXN3. Interacts (via its C-terminus) with DLG4/PSD-95 (via PDZ domain 3) By similarity. Homodimer, and heterodimer with NLGN1 and NLGN2 By similarity. Ref.8 |
| Subcellular location | Cell membrane; Single-pass type I membrane protein By similarity. Cell junction › synapse By similarity. Note: Detected at both glutamatergic and GABAergic synapses By similarity. |
| Tissue specificity | Expressed in the blood vessel walls (at protein level). Detected in throughout the brain and in spinal cord. Detected in brain, and at lower levels in pancreas islet beta cells. Ref.1 Ref.10 Ref.11 |
| Involvement in disease | Autism, X-linked 1 (AUTSX1) [MIM:300425]: 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. X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]: Considered to be a form of childhood autism. |
| 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
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 37 | 37 | Potential | ||||||||
| Chain | 38 – 848 | 811 | Neuroligin-3 | PRO_0000008645 | |||||||
Regions | |||||||||||
| Topological domain | 38 – 709 | 672 | Extracellular Potential | ||||||||
| Transmembrane | 710 – 730 | 21 | Helical; Potential | ||||||||
| Topological domain | 731 – 848 | 118 | Cytoplasmic Potential | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 792 | 1 | Phosphotyrosine By similarity | ||||||||
| Glycosylation | 98 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 545 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 106 ↔ 141 | By similarity | |||||||||
| Disulfide bond | 340 ↔ 351 | By similarity | |||||||||
| Disulfide bond | 510 ↔ 544 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 153 – 172 | 20 | Missing in isoform 2. | VSP_007534 | |||||||
| Natural variant | 92 | 1 | S → Y. Ref.6 Corresponds to variant rs17854698 [ dbSNP | Ensembl ]. | VAR_068887 | |||||||
| Natural variant | 451 | 1 | R → C in AUTSX1 and ASPGX1. Ref.12 | VAR_015668 | |||||||
| Natural variant | 718 | 1 | L → I. Ref.6 Corresponds to variant rs17854697 [ dbSNP | Ensembl ]. | VAR_068888 | |||||||
| Natural variant | 751 | 1 | G → W. Ref.6 Corresponds to variant rs17857400 [ dbSNP | Ensembl ]. | VAR_068889 | |||||||
| Natural variant | 778 | 1 | G → S. Ref.6 Corresponds to variant rs17857401 [ dbSNP | Ensembl ]. | VAR_068890 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 224 | 1 | L → P in AAF71230. Ref.1 | ||||||||
| Sequence conflict | 274 | 1 | F → S in BAG37248. Ref.3 | ||||||||
Sequences
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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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY. |
| [2] | "Characterization of the neuroligin gene family expression and evolution in zebrafish." Rissone A., Sangiorgio L., Monopoli M., Beltrame M., Zucchi I., Bussolino F., Arese M., Cotelli F. Dev. Dyn. 239:688-702(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [3] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-848 (ISOFORM 1). Tissue: Brain. |
| [4] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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 2), VARIANTS TYR-92; ILE-718; TRP-751 AND SER-778. Tissue: Brain. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-848. Tissue: Brain. |
| [8] | "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] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DLG4. |
| [9] | "Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins." Graf E.R., Zhang X., Jin S.X., Linhoff M.W., Craig A.M. Cell 119:1013-1026(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [10] | "Expression of neurexin, neuroligin, and their cytoplasmic binding partners in the pancreatic beta-cells and the involvement of neuroligin in insulin secretion." Suckow A.T., Comoletti D., Waldrop M.A., Mosedale M., Egodage S., Taylor P., Chessler S.D. Endocrinology 149:6006-6017(2008) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING. |
| [11] | "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] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [12] | "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. Van Maldergem L.Nat. Genet. 34:27-29(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT AUTSX1 CYS-451, VARIANT ASPGX1 CYS-451. |
| + | Additional computationally mapped references. |
Web resources
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. GQ489207 mRNA. Translation: ADB12634.1. AK074814 mRNA. Translation: BAC11226.1. Different initiation. AK314699 mRNA. Translation: BAG37248.1. AL590764 Genomic DNA. No translation available. CH471132 Genomic DNA. Translation: EAX05307.1. CH471132 Genomic DNA. Translation: EAX05308.1. CH471132 Genomic DNA. Translation: EAX05310.1. CH471132 Genomic DNA. Translation: EAX05312.1. BC051715 mRNA. Translation: AAH51715.1. AB040913 mRNA. Translation: BAA96004.1. Different initiation. |
| IPI | IPI00002307. IPI00184861. |
| RefSeq | NP_001160132.1. NM_001166660.1. NP_061850.2. NM_018977.3. NP_851820.1. NM_181303.1. |
| UniGene | Hs.438877. |
3D structure databases | |
| ProteinModelPortal | Q9NZ94. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NZ94. 1 interaction. |
| STRING | 9606.ENSP00000363163. |
Protein family/group databases | |
| MEROPS | S09.987. |
PTM databases | |
| PhosphoSite | Q9NZ94. |
Polymorphism databases | |
| DMDM | 31076855. |
Proteomic databases | |
| PaxDb | Q9NZ94. |
| PRIDE | Q9NZ94. |
Protocols and materials databases | |
| DNASU | 54413. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000358741; ENSP00000351591; ENSG00000196338. ENST00000374051; ENSP00000363163; ENSG00000196338. |
| GeneID | 54413. |
| KEGG | hsa:54413. |
| UCSC | uc004dzb.3. human. uc004dzd.2. human. |
Organism-specific databases | |
| CTD | 54413. |
| GeneCards | GC0XP070364. |
| HGNC | HGNC:14289. NLGN3. |
| HPA | HPA003183. |
| MIM | 300336. gene. 300425. phenotype. 300494. phenotype. |
| neXtProt | NX_Q9NZ94. |
| Orphanet | 1162. Asperger syndrome. 106. Autism. |
| PharmGKB | PA31649. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2272. |
| HOVERGEN | HBG008839. |
| InParanoid | Q9NZ94. |
| KO | K07378. |
| OMA | KPNKKIC. |
| PhylomeDB | Q9NZ94. |
Gene expression databases | |
| ArrayExpress | Q9NZ94. |
| Bgee | Q9NZ94. |
| CleanEx | HS_NLGN3. |
| Genevestigator | Q9NZ94. |
| GermOnline | ENSG00000196338. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002018. CarbesteraseB. IPR019819. Carboxylesterase_B_CS. IPR000460. Neuroligin. [Graphical view] |
| Pfam | PF00135. COesterase. 1 hit. [Graphical view] |
| PRINTS | PR01090. NEUROLIGIN. |
| PROSITE | PS00941. CARBOXYLESTERASE_B_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 54413. |
| NextBio | 35468089. |
| SOURCE | Search... |
Entry information
| Entry name | NLGN3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NZ94 Secondary accession number(s): B2RBK1 Q9P248 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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 |

Clusters with
