LOCUS       NM_181332               5858 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens neuroligin 4 X-linked (NLGN4X), transcript variant 2,
            mRNA.
ACCESSION   NM_181332
VERSION     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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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  (bases 1 to 5858)
  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 (bases 1 to 5858)
  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.
            
            On Nov 22, 2018 this sequence version replaced NM_181332.2.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-555               CN357526.1         16-570
            556-3366            AB033086.1         388-3198
            3367-5858           AC078989.22        78840-81331
FEATURES             Location/Qualifiers
     source          1..5858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.32-p22.31"
     gene            1..5858
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /note="neuroligin 4 X-linked"
                     /db_xref="GeneID:57502"
                     /db_xref="HGNC:HGNC:14287"
                     /db_xref="MIM:300427"
     exon            1..327
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     exon            328..1104
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             633..3083
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /codon_start=1
                     /product="neuroligin-4, X-linked precursor"
                     /protein_id="NP_851849.1"
                     /db_xref="CCDS:CCDS14126.1"
                     /db_xref="GeneID:57502"
                     /db_xref="HGNC:HGNC:14287"
                     /db_xref="MIM:300427"
                     /translation="MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQ
                     YPVVNTNYGKIRGLRTPLPNEILGPVEQYLGVPYASPPTGERRFQPPEPPSSWTGIRN
                     TTQFAAVCPQHLDERSLLHDMLPIWFTANLDTLMTYVQDQNEDCLYLNIYVPTEDDIH
                     DQNSKKPVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITINYRLGILGFLSTGDQAA
                     KGNYGLLDQIQALRWIEENVGAFGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKA
                     IIQSGTALSSWAVNYQPAKYTRILADKVGCNMLDTTDMVECLRNKNYKELIQQTITPA
                     TYHIAFGPVIDGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVDGIVDNEDGVTP
                     NDFDFSVSNFVDNLYGYPEGKDTLRETIKFMYTDWADKENPETRRKTLVALFTDHQWV
                     APAVATADLHAQYGSPTYFYAFYHHCQSEMKPSWADSAHGDEVPYVFGIPMIGPTELF
                     SCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDTKFIHTKPNRFEEVAWSKYNPKD
                     QLYLHIGLKPRVRDHYRATKVAFWLELVPHLHNLNEIFQYVSTTTKVPPPDMTSFPYG
                     TRRSPAKIWPTTKRPAITPANNPKHSKDPHKTGPEDTTVLIETKRDYSTELSVTIAVG
                     ASLLFLNILAFAALYYKKDKRRHETHRRPSPQRNTTNDIAHIQNEEIMSLQMKQLEHD
                     HECESLQAHDTLRLTCPPDYTLTLRRSPDDIPLMTPNTITMIPNTLTGMQPLHTFNTF
                     SGGQNSTNLPHGHSTTRV"
     exon            1105..1257
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1443
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..2233
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2234..5858
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5834..5839
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /note="hexamer: AATAAA"
     polyA_site      5858
                     /gene="NLGN4X"
                     /gene_synonym="ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4"
                     /note="major polyA site"
ORIGIN      
        1 gcagaaccgt ctctctccct tctctgtctc ttagcacaga gctcttattc agccactagc
       61 ttggcccttc ctgcttcaat tgtaatgctt gttctgcccg tccacagact attggcggca
      121 gaaacaacga atttcctcca aactaggcgg tgttggtggc tcttgcattc ctctggatga
      181 ggaaatctag ttggggggtt ccagaagggg aaggctcctg ggctttcaat acatcctcct
      241 gaatcatacc tcgtttcggg ttccctagaa aaatctggac gtgtaaaaag aactcttaac
      301 ggccgatgca gctcttccaa agctaaggct gccttggagt tttcataaga aattgtccct
      361 ggaggtgttg gatgatcaca gcttccttgg agcattgcag ttgctggaat ccagtttcag
      421 gattaaggga gggctgcctc cttgcaatgg gctgccaaga aaacggctgt gcttgttctt
      481 aacctcaggc tctgtctgtg atcagtctga gagtctctcc caggtctact gctccctgga
      541 aagccctatc tctctgcagg ctcgcctctg ggctttgtct ccttggagcc acatcactgg
      601 gacagctgtg gatgtggatg cagatttgaa ccatgtcacg gccccaggga ctgctatggc
      661 ttcctttgtt gttcaccccg gtctgcgtca tgttaaactc caatgtcctc ctgtggttaa
      721 ctgctcttgc catcaagttc accctcattg acagccaagc acagtatcca gttgtcaaca
      781 caaattatgg caaaatccgg ggcctaagaa caccgttacc caatgagatc ttgggtccag
      841 tggagcagta cttaggggtc ccctatgcct caccccccac tggagagagg cggtttcagc
      901 ccccagaacc cccgtcctcc tggactggca tccgaaatac tactcagttt gctgctgtgt
      961 gcccccagca cctggatgag agatccttac tgcatgacat gctgcccatc tggtttaccg
     1021 ccaatttgga tactttgatg acctatgttc aagatcaaaa tgaagactgc ctttacttaa
     1081 acatctacgt gcccacggaa gatgatattc atgatcagaa cagtaagaag cccgtcatgg
     1141 tctatatcca tgggggatct tacatggagg gcaccggcaa catgattgac ggcagcattt
     1201 tggcaagcta cggaaacgtc atcgtgatca ccattaacta ccgtctggga atactagggt
     1261 ttttaagtac cggtgaccag gcagcaaaag gcaactatgg gctcctggat cagattcaag
     1321 cactgcggtg gattgaggag aatgtgggag cctttggcgg ggaccccaag agagtgacca
     1381 tctttggctc gggggctggg gcctcctgtg tcagcctgtt gaccctgtcc cactactcag
     1441 aaggtctctt ccagaaggcc atcattcaga gcggcaccgc cctgtccagc tgggcagtga
     1501 actaccagcc ggccaagtac actcggatat tggcagacaa ggtcggctgc aacatgctgg
     1561 acaccacgga catggtagaa tgcctgcgga acaagaacta caaggagctc atccagcaga
     1621 ccatcacccc ggccacctac cacatagcct tcgggccggt gatcgacggc gacgtcatcc
     1681 cagacgaccc ccagatcctg atggagcaag gcgagttcct caactacgac atcatgctgg
     1741 gcgtcaacca aggggaaggc ctgaagttcg tggacggcat cgtggataac gaggacggtg
     1801 tgacgcccaa cgactttgac ttctccgtgt ccaacttcgt ggacaacctt tacggctacc
     1861 ctgaagggaa agacactttg cgggagacta tcaagttcat gtacacagac tgggccgata
     1921 aggaaaaccc ggagacgcgg cggaaaaccc tggtggctct ctttactgac caccagtggg
     1981 tggcccccgc cgtggccacc gccgacctgc acgcgcagta cggctccccc acctacttct
     2041 atgccttcta tcatcactgc caaagcgaaa tgaagcccag ctgggcagat tcggcccatg
     2101 gtgatgaggt cccctatgtc ttcggcatcc ccatgatcgg tcccaccgag ctcttcagtt
     2161 gtaacttttc caagaacgac gtcatgctca gcgccgtggt catgacctac tggacgaact
     2221 tcgccaaaac tggtgatcca aatcaaccag ttcctcagga taccaagttc attcacacaa
     2281 aacccaaccg ctttgaagaa gtggcctggt ccaagtataa tcccaaagac cagctctatc
     2341 tgcatattgg cttgaaaccc agagtgagag atcactaccg ggcaacgaaa gtggctttct
     2401 ggttggaact cgttcctcat ttgcacaact tgaacgagat attccagtat gtttcaacaa
     2461 ccacaaaggt tcctccacca gacatgacat catttcccta tggcacccgg cgatctcccg
     2521 ccaagatatg gccaaccacc aaacgcccag caatcactcc tgccaacaat cccaaacact
     2581 ctaaggaccc tcacaaaaca gggcctgagg acacaactgt cctcattgaa accaaacgag
     2641 attattccac cgaattaagt gtcaccattg ccgtcggggc gtcgctcctc ttcctcaaca
     2701 tcttagcttt tgcggcgctg tactacaaaa aggacaagag gcgccatgag actcacaggc
     2761 gccccagtcc ccagagaaac accacaaatg atatcgctca catccagaac gaagagatca
     2821 tgtctctgca gatgaagcag ctggaacacg atcacgagtg tgagtcgctg caggcacacg
     2881 acacactgag gctcacctgc ccgccagact acaccctcac gctgcgccgg tcgccagatg
     2941 acatcccact tatgacgcca aacaccatca ccatgattcc aaacacactg acggggatgc
     3001 agcctttgca cacttttaac accttcagtg gaggacaaaa cagtacaaat ttaccccacg
     3061 gacattccac cactagagta tagctttgcc ctatttccct tcctatccct ctgccctacc
     3121 cgctcagcaa catagaagag ggaaggaaag agagaaggaa agagagagag aaagaaagtc
     3181 tccagaccag gaatgttttt gtcccactga cttaagacaa aaatgcaaaa aggcagtcat
     3241 cccatcccgg cagaccctta tcgttggtgt tttccagtat tacaagatca acttctgacc
     3301 ctgtgaaatg tgagaagtac acatttctgt taaaataact gctttaagat ctctaccact
     3361 ccaatcgatg tttagtgtga taggacatca ccatttcaag gccccgggtg tttccaacgt
     3421 catggaagca gctgacactt ctgaaactca gccaaggaca cttgatattt tttaattaca
     3481 atggaagttt aaacatttct ttctgtgcca cacaatggat ggctctcctt aagtgaagaa
     3541 agagtcaatg agattttgcc cagcacatgg agctgtaatc cagagagaag gaaacgtaga
     3601 aatttattat taaaagaatg gactgtgcag cgaaatctgt acggttctgt gcaaagaggt
     3661 gttttgccag cctgaactat atttaagaga ctttgtaaaa aagaaaaatg tatatagctg
     3721 tgagtttaaa caaaaaccac aaacagacaa acaagaaaaa aagcttttat tggtgttttc
     3781 actttgaaag agcttttagc aaggttgtgc ttttcattgt gctctgtacg tatataaata
     3841 tatatatata tacacacaca cacacacatt agtcatatca cctctgtttc ctccccaaca
     3901 aaagaggctt ttcttcttaa ttacttgtgg taaacaaaga catgggattt tcttacatga
     3961 gattctcatt tgtaggagga tgtgatgtcc cacagaagac ccagacggtc tgtgtggcct
     4021 atttcccccg tcaggttgca caggtgcatg caagagcatt cttaggagac cactgttttg
     4081 aaaaactttt gacttgtacg tgttagcctt catgaaattg cagtacagag atgggtcccc
     4141 aaagtggagt gtatttacag cttgttaaat tagagacatg cacacacaaa gaatcagtag
     4201 ggagaaacaa aaatacaagt cccgttctgt agctctggcc ctttgaatat gtttaggaag
     4261 agttgcttcc catttcaggg ccctgccaaa aaaagaagaa agcttgcctt tggtggggct
     4321 atgccccttg gagtaaatac ggctctgtgt tccctagcag ctgcgggagg gtttggccga
     4381 tgaagtacct gctcagctta gctaatcaga ttgaaggaag acatgtgtct ttcctttttg
     4441 tttaagcact cggtccctta tttatcagta agcaggtttt taaaaatctt ttatatcatt
     4501 tatgggatca aacatatgat tgtctgaaaa catcactttt tgtggatttg tgtatccggt
     4561 caccaaacgg tgaatattat agaagaatgg gggaagaaag gatagaatat taaaactgct
     4621 ttgcatgggt tttctgggaa attaggataa cttcactgag aagacattga atggaaatta
     4681 ttcacccatt ttaaattggt gacctaggga tcagagattt gtctttccaa cagcttgtca
     4741 ttttttcatt tctcttctca tttttcagga aagttttgag tgttataagg tggaaggaaa
     4801 catagtagca atggatactt ttttgaaaaa ttattgcatt accaagaaac agtagccaaa
     4861 gatatttgaa gatcatgttc ctcggctcca ttgtgggtta ttctagaaat ccagtcttaa
     4921 atctctccgc taaagtggac attccccata aaaattgtcc agctgcctgg ctcttttgca
     4981 ataacaacct ttgattactg aatccctaca ctcaaactat agtgatatat cagtgtttga
     5041 gagtgacctc tagaaaaaag aaaagtgttt ttagaaatgc gtacaagtca cccccaaatc
     5101 ctattgctta tcttgggtta aatttgagag tgattctctg tatataaata tgtgaaatat
     5161 tattatctca acttagcaca cgtgaagcaa catttctttc ctacagagag gtgtcatggt
     5221 aagatttcat tccgaattca ttgtttcata gagctatgat caggccattt ctgcaagcaa
     5281 tgtatgaccc cacctgagca accacaaata ggctctctgt gaaactacaa aggaagttat
     5341 gtgtggcatc catgttggtt tcgtctgtct gtaatgtgaa ttccagtatt tgtttagtat
     5401 ttccagttgt ctcctgctag caatatgtac agtaacgcgt caggcttgtg acatttgaat
     5461 aaggaaaaac agagttcctg ttaagtgaat aactttagct tttacagggg attatgatca
     5521 aaagtgattt tagtacatct taaatgatat cttatttcta catggaaaga agttatagaa
     5581 tcttcataga gttctatgag aaaaaatata cttgctatct ataaaaaaga gaaaaaagaa
     5641 aaaaaatgag aaaaaagtaa gaaaaaaaaa aatcctgtcc taggctttta ctcttgatct
     5701 tcaaaggcac gcagggttta atggttcctt gggttattat tttgcagttt tgttttttat
     5761 tttgccttaa gtaatgatag aagatatata tggccggaca catatgtata aacttttcag
     5821 cagcattttt aataataaaa tatcacagta ttttctaa
//
