LOCUS       NM_001080418            3921 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens DLG associated protein 3 (DLGAP3), mRNA.
ACCESSION   NM_001080418 XM_035601
VERSION     NM_001080418.3
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 3921)
  AUTHORS   Kajs,B.L., van Roessel,P.J., Davis,G.L., Williams,L.M.,
            Rodriguez,C.I. and Gunaydin,L.A.
  TITLE     Valence processing alterations in SAPAP3 knockout mice and human
            OCD
  JOURNAL   J Psychiatr Res 151, 657-666 (2022)
   PUBMED   35661523
  REMARK    GeneRIF: Valence processing alterations in SAPAP3 knockout mice and
            human OCD.
REFERENCE   2  (bases 1 to 3921)
  AUTHORS   Zhang,Y., Wu,J., Yan,Y., Gu,Y., Ma,Y., Wang,M., Zhang,H., Tao,K.,
            Lu,Y., Yu,W., Jing,W., Wang,X. and Tian,X.
  TITLE     SAPAP3 regulates epileptic seizures involving GluN2A in
            post-synaptic densities
  JOURNAL   Cell Death Dis 13 (5), 437 (2022)
   PUBMED   35513389
  REMARK    GeneRIF: SAPAP3 regulates epileptic seizures involving GluN2A in
            post-synaptic densities.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3921)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3921)
  AUTHORS   Li,J.M., Lu,C.L., Cheng,M.C., Luu,S.U., Hsu,S.H. and Chen,C.H.
  TITLE     Exonic resequencing of the DLGAP3 gene as a candidate gene for
            schizophrenia
  JOURNAL   Psychiatry Res 208 (1), 84-87 (2013)
   PUBMED   23414653
  REMARK    GeneRIF: several rare variants of the DLGAP3 gene were found in
            this study which may be associated with schizophrenia.
REFERENCE   5  (bases 1 to 3921)
  AUTHORS   Chua,J.J., Schob,C., Rehbein,M., Gkogkas,C.G., Richter,D. and
            Kindler,S.
  TITLE     Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via
            alternative translational initiation
  JOURNAL   Sci Rep 2, 484 (2012)
   PUBMED   22761992
REFERENCE   6  (bases 1 to 3921)
  AUTHORS   Ryu,S., Oh,S., Cho,E.Y., Nam,H.J., Yoo,J.H., Park,T., Joo,Y.H.,
            Kwon,J.S. and Hong,K.S.
  TITLE     Interaction between genetic variants of DLGAP3 and SLC1A1 affecting
            the risk of atypical antipsychotics-induced obsessive-compulsive
            symptoms
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 156B (8), 949-959 (2011)
   PUBMED   21990008
  REMARK    GeneRIF: This study provides suggestive evidence that DLGAP3 and
            its interactive effect with SLC1A1 might be involved in
            susceptibility to developing OC symptoms in schizophrenia patients
            receiving AAP treatment.
REFERENCE   7  (bases 1 to 3921)
  AUTHORS   Bienvenu,O.J., Wang,Y., Shugart,Y.Y., Welch,J.M., Grados,M.A.,
            Fyer,A.J., Rauch,S.L., McCracken,J.T., Rasmussen,S.A., Murphy,D.L.,
            Cullen,B., Valle,D., Hoehn-Saric,R., Greenberg,B.D., Pinto,A.,
            Knowles,J.A., Piacentini,J., Pauls,D.L., Liang,K.Y., Willour,V.L.,
            Riddle,M., Samuels,J.F., Feng,G. and Nestadt,G.
  TITLE     Sapap3 and pathological grooming in humans: Results from the OCD
            collaborative genetics study
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (5), 710-720 (2009)
   PUBMED   19051237
  REMARK    GeneRIF: Sapap3 is a promising functional candidate gene for human
            grooming disorder (obsessive compulsive disorder).
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3921)
  AUTHORS   Zuchner,S., Wendland,J.R., Ashley-Koch,A.E., Collins,A.L.,
            Tran-Viet,K.N., Quinn,K., Timpano,K.C., Cuccaro,M.L.,
            Pericak-Vance,M.A., Steffens,D.C., Krishnan,K.R., Feng,G. and
            Murphy,D.L.
  TITLE     Multiple rare SAPAP3 missense variants in trichotillomania and OCD
  JOURNAL   Mol Psychiatry 14 (1), 6-9 (2009)
   PUBMED   19096451
  REMARK    GeneRIF: Multiple rare SAPAP3 missense variants in trichotillomania
            and OCD.
            Review article
REFERENCE   9  (bases 1 to 3921)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   10 (bases 1 to 3921)
  AUTHORS   Bongiorno-Borbone,L., Kadare,G., Benfenati,F. and Girault,J.A.
  TITLE     FAK and PYK2 interact with SAP90/PSD-95-Associated Protein-3
  JOURNAL   Biochem Biophys Res Commun 337 (2), 641-646 (2005)
   PUBMED   16202977
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114490.2 and AL122010.10.
            
            On Nov 23, 2018 this sequence version replaced NM_001080418.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373347.6/ ENSP00000362444.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-200               AC114490.2         59242-59441         c
            201-283             AC114490.2         37146-37228         c
            284-1441            AC114490.2         34068-35225         c
            1442-1647           AC114490.2         29859-30064         c
            1648-1720           AC114490.2         29460-29532         c
            1721-1934           AC114490.2         15863-16076         c
            1935-2248           AC114490.2         15269-15582         c
            2249-2334           AC114490.2         14769-14854         c
            2335-2819           AL122010.10        9171-9655
            2820-2911           AL122010.10        10633-10724
            2912-3055           AL122010.10        11069-11212
            3056-3921           AL122010.10        11959-12824
FEATURES             Location/Qualifiers
     source          1..3921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..3921
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /note="DLG associated protein 3"
                     /db_xref="GeneID:58512"
                     /db_xref="HGNC:HGNC:30368"
                     /db_xref="MIM:611413"
     exon            1..200
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            201..283
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            284..1441
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..3274
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /note="PSD-95/SAP90-binding protein 3; DAP-3; discs large
                     homolog associated protein 3; SAP90/PSD-95-associated
                     protein 3"
                     /codon_start=1
                     /product="disks large-associated protein 3"
                     /protein_id="NP_001073887.1"
                     /db_xref="CCDS:CCDS30670.1"
                     /db_xref="GeneID:58512"
                     /db_xref="HGNC:HGNC:30368"
                     /db_xref="MIM:611413"
                     /translation="MRGYHGDRGSHPRPARFADQQHMDVGPAARAPYLLGSREAFSTE
                     PRFCAPRAGLGHISPEGPLSLSEGPSVGPEGGPAGAGVGGGSSTFPRMYPGQGPFDTC
                     EDCVGHPQGKGAPRLPPTLLDQFEKQLPVQQDGFHTLPYQRGPAGAGPGPAPGTGTAP
                     EPRSESPSRIRHLVHSVQKLFAKSHSLEAPGKRDYNGPKAEGRGGSGGDSYPGPGSGG
                     PHTSHHHHHHHHHHHHQSRHGKRSKSKDRKGDGRHQAKSTGWWSSDDNLDSDSGFLAG
                     GRPPGEPGGPFCLEGPDGSYRDLSFKGRSGGSEGRCLACTGMSMSLDGQSVKRSAWHT
                     MMVSQGRDGYPGAGPGKGLLGPETKAKARTYHYLQVPQDDWGGYPTGGKDGEIPCRRM
                     RSGSYIKAMGDEESGDSDGSPKTSPKAVARRFTTRRSSSVDQARINCCVPPRIHPRSS
                     IPGYSRSLTTGQLSDELNQQLEAVCGSVFGELESQAVDALDLPGCFRMRSHSYLRAIQ
                     AGCSQDDDCLPLLATPAAVSGRPGSSFNFRKAPPPIPPGSQAPPRISITAQSSTDSAH
                     ESFTAAEGPARRCSSADGLDGPAMGARTLELAPVPPRASPKPPTLIIKTIPGREELRS
                     LARQRKWRPSIGVQVETISDSDTENRSRREFHSIGVQVEEDKRRARFKRSNSVTAGVQ
                     ADLELEGLAGLATVATEDKALQFGRSFQRHASEPQPGPRAPTYSVFRTVHTQGQWAYR
                     EGYPLPYEPPATDGSPGPAPAPTPGPGAGRRDSWIERGSRSLPDSGRASPCPRDGEWF
                     IKMLRAEVEKLEHWCQQMEREAEDYELPEEILEKIRSAVGSTQLLLSQKVQQFFRLCQ
                     QSMDPTAFPVPTFQDLAGFWDLLQLSIEDVTLKFLELQQLKANSWKLLEPKEEKKVPP
                     PIPKKPLRGRGVPVKERSLDSVDRQRQEARKRLLAAKRAASFRHSSATESADSIEIYI
                     PEAQTRL"
     exon            1442..1647
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1720
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..1934
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2248
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2334
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2335..2819
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2820..2911
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2912..3055
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3056..3921
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3902..3907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /note="hexamer: AATAAA"
     polyA_site      3921
                     /gene="DLGAP3"
                     /gene_synonym="DAP3; SAPAP3; SPAPA3"
                     /note="major polyA site"
ORIGIN      
        1 agcctccgtg gcttggccgc ctcccgctcc cgcgcccgct gccgctcggc gctcgcttgg
       61 ggctccgcag ccggcgcggc ccctcagctg ggggctccgc agtgccgggc cccggtccct
      121 gcccgcctgc ccaacgccgc agcgcccccg gcccgggccg ccggcaccat gtaacccggc
      181 cggagcccga gccgggccag gattcagtgg tcctgagcct tctgaagtta ggcttctgcc
      241 tggtggtggg gatcctgaca tcaaggatgg gacaccctgg atggaggttc ctggggcctg
      301 gcccccaaga ctatgaagag cctttgctga ggccatgagg ggttaccatg gcgaccgagg
      361 cagccatccc cgcccagccc gctttgctga ccaacagcat atggacgtgg gccctgctgc
      421 cagggcccca tacctgctgg gctccaggga ggccttctcc accgagcccc gcttctgtgc
      481 cccgagagct ggcctgggac acatttctcc tgaagggccc ctgagcctga gtgaggggcc
      541 gtcggtaggc cctgagggag ggccagcggg ggccggggtt ggggggggta gcagcacctt
      601 ccccaggatg taccctggcc agggcccctt cgacacctgt gaagactgtg tgggccaccc
      661 acagggcaag ggtgcccccc gcctgcctcc tacactcctg gatcagtttg aaaagcagtt
      721 gccagttcaa caagatggct tccacacact accataccag cgagggccag caggggcagg
      781 gcccgggcca gcgccaggga cgggcactgc cccagagccc cgcagtgaga gccctagccg
      841 catccggcac ctggttcatt ctgtgcagaa gctctttgcc aagtcccact ctctggaggc
      901 gccggggaag cgggactata atgggcccaa ggctgaggga agaggtggct ctggaggaga
      961 cagctacccc ggcccgggct ctggaggccc ccacacctcc catcaccacc atcaccacca
     1021 ccatcaccac caccaccagt cccggcacgg caagaggagc aagagcaagg accgcaaggg
     1081 ggatgggcgg caccaggcca agtccacagg ctggtggagt tccgatgaca acttggacag
     1141 tgatagcggc ttcctggcgg gtgggaggcc ccctggggag cctggtggtc ccttctgcct
     1201 ggagggtcca gatgggtcct accgggactt gagcttcaag gggcgctcgg gcgggtcgga
     1261 aggccgctgc cttgcctgca ctggcatgtc catgtcactg gatggacagt cggtcaagcg
     1321 aagtgcctgg cataccatga tggtcagcca gggccgggat ggatacccgg gggccgggcc
     1381 aggcaagggg ctcctgggtc cggagaccaa ggccaaagcc aggacttatc actatctgca
     1441 ggtgccgcaa gatgactggg ggggttaccc caccggtggc aaggatgggg agatcccctg
     1501 ccgcaggatg cggagcggca gctacatcaa agccatgggg gatgaggaga gcggagactc
     1561 agacggcagc cccaagacat ctcccaaagc agtcgcccga cgcttcacca cccgtcgctc
     1621 ctccagcgtg gaccaggcca ggatcaactg ctgtgtccca ccccggatcc acccccggag
     1681 ctccatccct ggctacagcc gttccctcac cactggacag ctcagcgatg agttgaacca
     1741 gcagctggag gccgtgtgcg ggtcggtgtt tggggagctg gagtcccagg ccgtggacgc
     1801 cctggacctg cccggctgtt tccgcatgcg gagccacagc tacctccggg ccatccaggc
     1861 cggctgctct caagacgacg actgcctgcc cctcctcgct acccctgccg ctgtctcagg
     1921 gaggcccggc tcctccttca acttcagaaa ggccccgccc cccatcccgc cgggaagcca
     1981 ggccccgccc cgcatctcca tcaccgccca gagcagcacc gactccgcgc acgagagctt
     2041 cacggcggcc gagggccccg cccggcgctg cagctccgcc gacgggctgg acggccccgc
     2101 catgggtgcg cgcacactgg agttggcgcc ggtgccgccc cgggccagcc ccaagccccc
     2161 cacactcatc atcaagacca tccctggcag ggaggagctg cggagcctgg cgcggcagcg
     2221 gaagtggcgg ccgtccattg gggtgcaggt ggagacgatc tcagattcgg acaccgagaa
     2281 caggagccgg agggagttcc actctattgg cgtgcaggtg gaagaggaca agaggcgagc
     2341 aaggttcaag cgctccaata gtgtgacggc tggcgtgcag gcagacctgg agctggaggg
     2401 cctggcaggc ctggccacgg tggccacaga agacaaggcc ctgcagtttg gacgctcctt
     2461 ccagaggcac gcctctgagc cccagcctgg gccccgggcc cccacctact cagtcttccg
     2521 cacggtccac acgcagggcc agtgggccta ccgcgagggc tacccactgc cgtacgagcc
     2581 gccggccacc gatgggtcgc ccggccctgc ccccgccccc acccccggcc ctggggccgg
     2641 ccgccgtgac tcctggatag agcgcggttc acgtagcctc cccgactcag gccgcgcatc
     2701 cccctgccca cgcgacggcg agtggttcat caagatgctg cgggcagagg tggagaagct
     2761 ggagcactgg tgccagcaga tggagcgtga ggcggaggac tatgagctac ccgaggagat
     2821 cctggagaag atccgcagtg ctgtgggcag cacacaactt ctcctgtccc agaaggttca
     2881 gcagttcttc cggctgtgtc agcaaagcat ggatcccact gcgttccctg tgcccacctt
     2941 ccaggacctg gcgggtttct gggacctcct acagctctcc atcgaggatg tgaccctcaa
     3001 gttcctggag ctacagcaac tcaaggccaa cagctggaaa ctcctggagc ctaaggagga
     3061 gaagaaggtc cctccgccga taccaaagaa gcccctgcgg ggccggggcg tgccggtgaa
     3121 ggagcgctcc ctggactccg tggaccggca gcggcaggaa gcgcgcaagc ggctcctggc
     3181 ggccaagcgc gccgcttcct tccgccacag ctcggccacc gagagcgccg acagcatcga
     3241 gatctacatc cccgaggccc agaccaggct gtgaccggtc cggcccgccc agcccggccc
     3301 gggcccgcgg ttctccaccc gtactgtaca cccagcgtcg aggtcactgt gaacgcgggc
     3361 cgccccgtgc gcccgcccca ccggcaccgg acgccccggc ccccgggccc gtcacactct
     3421 cgtgggtttt ttaccttcct gatcccacgc gaaggcgccc gggctgggca gggggccgtg
     3481 cctctccgcc ctgcgcccct cacctggatc ccctgcccac ctggtccgac gctttgtccc
     3541 cacctcctcc ccatgggcac catctctgcc attctttccc ccacgggcca ggccgggccg
     3601 ggtccctcat ctgggctctg cgtccccccc tcccccaccc cgcggggctg ggcttcgtgg
     3661 ggatcaagct tcgtggcttt ttatgaagaa tcccgaaccc tgcctaggag cccgccccac
     3721 cctcccaggg gctccatcct cagccctctg cccactgggc ccagggacca cagtggctgg
     3781 accaacccag gaccagggcg cctgggcctc tcccctttcc cagcggctgg ggaggggaga
     3841 tgggggcttc ccctcaccac acctgtggct gttcccacat ccccttgaat atcccaggaa
     3901 aaataaaacg gcagaactgc a
//
