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Q9NZ94 (NLGN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. 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

Names and origin

Protein namesRecommended name:
Neuroligin-3
Alternative name(s):
Gliotactin homolog
Gene names
Name:NLGN3
Synonyms:KIAA1480, NL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

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

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 junctionsynapse 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.12

Asperger syndrome, X-linked, 1 (ASPGX1) [MIM:300494]: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.12

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 componentCell junction
Cell membrane
Membrane
Synapse
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult behavior

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

axon extension

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

cell adhesion

Inferred from electronic annotation. Source: InterPro

learning

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

neuron cell-cell adhesion

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

positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

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

positive regulation of excitatory postsynaptic membrane potential

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

positive regulation of synapse assembly

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

positive regulation of synaptic transmission, glutamatergic

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

postsynaptic membrane 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 N-methyl-D-aspartate selective glutamate receptor activity

Inferred from electronic annotation. Source: Ensembl

regulation of dendritic spine morphogenesis

Inferred from electronic annotation. Source: Ensembl

regulation of inhibitory postsynaptic membrane potential

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

regulation of long-term synaptic potentiation

Inferred from electronic annotation. Source: Ensembl

regulation of respiratory gaseous exchange by neurological system process

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

regulation of synaptic transmission

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

regulation of terminal button organization

Inferred from electronic annotation. Source: Ensembl

rhythmic synaptic transmission

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

social behavior

Inferred from mutant phenotype Ref.12. Source: UniProtKB

synapse assembly

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

synapse organization

Inferred from mutant phenotype PubMed 15150161. Source: UniProtKB

visual learning

Inferred from electronic annotation. Source: Ensembl

vocalization behavior

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

cell 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 Ref.9. Source: BHF-UCL

integral component of plasma membrane

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

membrane

Inferred from electronic annotation. Source: InterPro

synapse

Inferred from sequence or structural similarity. Source: UniProtKB

   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 3 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.
Isoform 3 (identifier: Q9NZ94-3)

The sequence of this isoform differs from the canonical sequence as follows:
     153-192: Missing.
Note: No experimental evidence available. Gene prediction based on EST data.

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 – 19240Missing in isoform 3.
VSP_053827
Alternative sequence153 – 17220Missing in isoform 2.
VSP_007534
Natural variant921S → Y. Ref.6
Corresponds to variant rs17854698 [ dbSNP | Ensembl ].
VAR_068887
Natural variant4511R → C in AUTSX1 and ASPGX1. Ref.12
VAR_015668
Natural variant7181L → I. Ref.6
Corresponds to variant rs17854697 [ dbSNP | Ensembl ].
VAR_068888
Natural variant7511G → W. Ref.6
Corresponds to variant rs17857400 [ dbSNP | Ensembl ].
VAR_068889
Natural variant7781G → S. Ref.6
Corresponds to variant rs17857401 [ dbSNP | Ensembl ].
VAR_068890

Experimental info

Sequence conflict2241L → P in AAF71230. Ref.1
Sequence conflict2741F → S in BAG37248. Ref.3

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
Isoform 3 [UniParc].

Checksum: A0686FBADE342331
Show »

FASTA80889,538

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(2010) [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. 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] [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. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., 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. 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].
[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. 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] [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: EAX05309.1.
CH471132 Genomic DNA. Translation: EAX05310.1.
CH471132 Genomic DNA. Translation: EAX05312.1.
CH471132 Genomic DNA. Translation: EAX05313.1.
BC051715 mRNA. Translation: AAH51715.1.
AB040913 mRNA. Translation: BAA96004.1. Different initiation.
RefSeqNP_001160132.1. NM_001166660.1.
NP_061850.2. NM_018977.3.
NP_851820.1. NM_181303.1.
UniGeneHs.438877.

3D structure databases

DisProtDP00553.
ProteinModelPortalQ9NZ94.
SMRQ9NZ94. Positions 42-632.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119944. 6 interactions.
IntActQ9NZ94. 1 interaction.
MINTMINT-199096.
STRING9606.ENSP00000363163.

Protein family/group databases

MEROPSS09.987.

PTM databases

PhosphoSiteQ9NZ94.

Polymorphism databases

DMDM31076855.

Proteomic databases

PaxDbQ9NZ94.
PRIDEQ9NZ94.

Protocols and materials databases

DNASU54413.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358741; ENSP00000351591; ENSG00000196338. [Q9NZ94-1]
ENST00000374051; ENSP00000363163; ENSG00000196338. [Q9NZ94-2]
ENST00000536169; ENSP00000445298; ENSG00000196338.
GeneID54413.
KEGGhsa:54413.
UCSCuc004dzb.3. human. [Q9NZ94-2]
uc004dzd.2. human. [Q9NZ94-1]

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.
HOVERGENHBG008839.
InParanoidQ9NZ94.
KOK07378.
OMAKPNKKIC.
OrthoDBEOG7RBZ7R.
PhylomeDBQ9NZ94.
TreeFamTF326187.

Gene expression databases

ArrayExpressQ9NZ94.
BgeeQ9NZ94.
CleanExHS_NLGN3.
GenevestigatorQ9NZ94.

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

GeneWikiNLGN3.
GenomeRNAi54413.
NextBio35468089.
PROQ9NZ94.
SOURCESearch...

Entry information

Entry nameNLGN3_HUMAN
AccessionPrimary (citable) accession number: Q9NZ94
Secondary accession number(s): B2RBK1 expand/collapse secondary AC list , D2X2H6, D3DVV0, D3DVV1, Q86V51, Q8NCD0, Q9NZ95, Q9NZ96, Q9NZ97, Q9P248
Entry history
Integrated into UniProtKB/Swiss-Prot: May 23, 2003
Last sequence update: May 23, 2003
Last modified: April 16, 2014
This is version 121 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

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