LOCUS       NP_851849                816 aa            linear   PRI 17-SEP-2024
DEFINITION  neuroligin-4, X-linked precursor [Homo sapiens].
ACCESSION   NP_851849
VERSION     NP_851849.1
DBSOURCE    REFSEQ: accession NM_181332.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 816)
  AUTHORS   Schorghofer,D., Vock,L., Mirea,M.A., Eckel,O., Gschwendtner,A.,
            Neesen,J., Richtig,E., Hengstschlager,M. and Mikula,M.
  TITLE     Late stage melanoma is hallmarked by low NLGN4X expression leading
            to HIF1A accumulation
  JOURNAL   Br J Cancer 131 (3), 468-480 (2024)
   PUBMED   38902533
  REMARK    GeneRIF: Late stage melanoma is hallmarked by low NLGN4X expression
            leading to HIF1A accumulation.
REFERENCE   2  (residues 1 to 816)
  AUTHORS   Toya,A., Fukada,M., Aoki,E., Matsuki,T., Ueda,M., Eda,S.,
            Hashizume,Y., Iio,A., Masaki,S. and Nakayama,A.
  TITLE     The distribution of neuroligin4, an autism-related postsynaptic
            molecule, in the human brain
  JOURNAL   Mol Brain 16 (1), 20 (2023)
   PUBMED   36747195
  REMARK    GeneRIF: The distribution of neuroligin4, an autism-related
            postsynaptic molecule, in the human brain.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 816)
  AUTHORS   Roundhill,E.A., Chicon-Bosch,M., Jeys,L., Parry,M., Rankin,K.S.,
            Droop,A. and Burchill,S.A.
  TITLE     RNA sequencing and functional studies of patient-derived cells
            reveal that neurexin-1 and regulators of this pathway are
            associated with poor outcomes in Ewing sarcoma
  JOURNAL   Cell Oncol (Dordr) 44 (5), 1065-1085 (2021)
   PUBMED   34403115
  REMARK    GeneRIF: RNA sequencing and functional studies of patient-derived
            cells reveal that neurexin-1 and regulators of this pathway are
            associated with poor outcomes in Ewing sarcoma.
REFERENCE   4  (residues 1 to 816)
  AUTHORS   Kopp,N., Amarillo,I., Martinez-Agosto,J. and Quintero-Rivera,F.
  TITLE     Pathogenic paternally inherited NLGN4X deletion in a female with
            autism spectrum disorder: Clinical, cytogenetic, and molecular
            characterization
  JOURNAL   Am J Med Genet A 185 (3), 894-900 (2021)
   PUBMED   33369065
  REMARK    GeneRIF: Pathogenic paternally inherited NLGN4X deletion in a
            female with autism spectrum disorder: Clinical, cytogenetic, and
            molecular characterization.
REFERENCE   5  (residues 1 to 816)
  AUTHORS   Cast,T.P., Boesch,D.J., Smyth,K., Shaw,A.E., Ghebrial,M. and
            Chanda,S.
  TITLE     An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation
            and Enhances Excitatory Synaptic Transmission in Human Neurons
  JOURNAL   J Neurosci 41 (3), 392-407 (2021)
   PUBMED   33268543
  REMARK    GeneRIF: An Autism-Associated Mutation Impairs Neuroligin-4
            Glycosylation and Enhances Excitatory Synaptic Transmission in
            Human Neurons.
REFERENCE   6  (residues 1 to 816)
  AUTHORS   Laumonnier,F., Bonnet-Brilhault,F., Gomot,M., Blanc,R., David,A.,
            Moizard,M.P., Raynaud,M., Ronce,N., Lemonnier,E., Calvas,P.,
            Laudier,B., Chelly,J., Fryns,J.P., Ropers,H.H., Hamel,B.C.,
            Andres,C., Barthelemy,C., Moraine,C. and Briault,S.
  TITLE     X-linked mental retardation and autism are associated with a
            mutation in the NLGN4 gene, a member of the neuroligin family
  JOURNAL   Am J Hum Genet 74 (3), 552-557 (2004)
   PUBMED   14963808
REFERENCE   7  (residues 1 to 816)
  AUTHORS   Jamain,S., Quach,H., Betancur,C., Rastam,M., Colineaux,C.,
            Gillberg,I.C., Soderstrom,H., Giros,B., Leboyer,M., Gillberg,C. and
            Bourgeron,T.
  CONSRTM   Paris Autism Research International Sibpair Study
  TITLE     Mutations of the X-linked genes encoding neuroligins NLGN3 and
            NLGN4 are associated with autism
  JOURNAL   Nat Genet 34 (1), 27-29 (2003)
   PUBMED   12669065
  REMARK    GeneRIF: report mutations in two X-linked genes encoding
            neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum
            disorders
REFERENCE   8  (residues 1 to 816)
  AUTHORS   Bolliger,M.F., Frei,K., Winterhalter,K.H. and Gloor,S.M.
  TITLE     Identification of a novel neuroligin in humans which binds to
            PSD-95 and has a widespread expression
  JOURNAL   Biochem J 356 (Pt 2), 581-588 (2001)
   PUBMED   11368788
REFERENCE   9  (residues 1 to 816)
  AUTHORS   Cantallops,I. and Cline,H.T.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
REFERENCE   10 (residues 1 to 816)
  AUTHORS   Irie,M., Hata,Y., Takeuchi,M., Ichtchenko,K., Toyoda,A., Hirao,K.,
            Takai,Y., Rosahl,T.W. and Sudhof,T.C.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN357526.1, AB033086.1 and
            AC078989.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the type-B
            carboxylesterase/lipase protein family. The encoded protein belongs
            to a family of neuronal cell surface proteins. Members of this
            family may act as splice site-specific ligands for beta-neurexins
            and may be involved in the formation and remodeling of central
            nervous system synapses. The encoded protein interacts with discs
            large homolog 4 (DLG4). Mutations in this gene have been associated
            with autism and Asperger syndrome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 3. Variants 1, 2, 3, and 4 encode the same
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.174330.1,
                                           SRR1803611.266722.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381095.8/ ENSP00000370485.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.32-p22.31"
     Protein         1..816
                     /product="neuroligin-4, X-linked precursor"
                     /calculated_mol_wt=87304
     sig_peptide     1..41
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=4630
     Region          44..590
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(174..176,253..255,258,399,405..406,444,490,493)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(254,375,489)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..816
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /coded_by="NM_181332.3:633..3083"
                     /db_xref="CCDS:CCDS14126.1"
                     /db_xref="GeneID:57502"
                     /db_xref="HGNC:HGNC:14287"
                     /db_xref="MIM:300427"
ORIGIN      
        1 msrpqgllwl pllftpvcvm lnsnvllwlt alaikftlid sqaqypvvnt nygkirglrt
       61 plpneilgpv eqylgvpyas pptgerrfqp peppsswtgi rnttqfaavc pqhldersll
      121 hdmlpiwfta nldtlmtyvq dqnedclyln iyvpteddih dqnskkpvmv yihggsymeg
      181 tgnmidgsil asygnvivit inyrlgilgf lstgdqaakg nyglldqiqa lrwieenvga
      241 fggdpkrvti fgsgagascv slltlshyse glfqkaiiqs gtalsswavn yqpakytril
      301 adkvgcnmld ttdmveclrn knykeliqqt itpatyhiaf gpvidgdvip ddpqilmeqg
      361 eflnydimlg vnqgeglkfv dgivdnedgv tpndfdfsvs nfvdnlygyp egkdtlreti
      421 kfmytdwadk enpetrrktl valftdhqwv apavatadlh aqygsptyfy afyhhcqsem
      481 kpswadsahg devpyvfgip migptelfsc nfskndvmls avvmtywtnf aktgdpnqpv
      541 pqdtkfihtk pnrfeevaws kynpkdqlyl higlkprvrd hyratkvafw lelvphlhnl
      601 neifqyvstt tkvpppdmts fpygtrrspa kiwpttkrpa itpannpkhs kdphktgped
      661 ttvlietkrd ystelsvtia vgasllflni lafaalyykk dkrrhethrr pspqrnttnd
      721 iahiqneeim slqmkqlehd heceslqahd tlrltcppdy tltlrrspdd iplmtpntit
      781 mipntltgmq plhtfntfsg gqnstnlphg hsttrv
//
