LOCUS       NM_145965               3316 bp    mRNA    linear   ROD 06-NOV-2024
DEFINITION  Mus musculus gephyrin (Gphn), transcript variant 1, mRNA.
ACCESSION   NM_145965
VERSION     NM_145965.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3316)
  AUTHORS   Neumann,E., Cramer,T., Acuna,M.A., Scheurer,L., Beccarini,C.,
            Luscher,B., Wildner,H. and Zeilhofer,H.U.
  TITLE     gamma1 GABAA Receptors in Spinal Nociceptive Circuits
  JOURNAL   J Neurosci 44 (41), e0591242024 (2024)
   PUBMED   39137998
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3316)
  AUTHORS   Campbell,B.F.N., Cruz-Ochoa,N., Otomo,K., Lukacsovich,D.,
            Espinosa,P., Abegg,A., Luo,W., Bellone,C., Foldy,C. and
            Tyagarajan,S.K.
  TITLE     Gephyrin phosphorylation facilitates sexually dimorphic development
            and function of parvalbumin interneurons in the mouse hippocampus
  JOURNAL   Mol Psychiatry 29 (8), 2510-2526 (2024)
   PUBMED   38503929
REFERENCE   3  (bases 1 to 3316)
  AUTHORS   Chen,H.Y., Phan,B.N., Shim,G., Hamersky,G.R., Sadowski,N.,
            O'Donnell,T.S., Sripathy,S.R., Bohlen,J.F., Pfenning,A.R. and
            Maher,B.J.
  TITLE     Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the
            density and connectivity of distinct inhibitory interneuron
            subtypes
  JOURNAL   Mol Psychiatry 28 (11), 4679-4692 (2023)
   PUBMED   37770578
REFERENCE   4  (bases 1 to 3316)
  AUTHORS   Salamon,I., Park,Y., Miskic,T., Kopic,J., Matteson,P., Page,N.F.,
            Roque,A., McAuliffe,G.W., Favate,J., Garcia-Forn,M., Shah,P.,
            Judas,M., Millonig,J.H., Kostovic,I., De Rubeis,S., Hart,R.P.,
            Krsnik,Z. and Rasin,M.R.
  TITLE     Celf4 controls mRNA translation underlying synaptic development in
            the prenatal mammalian neocortex
  JOURNAL   Nat Commun 14 (1), 6025 (2023)
   PUBMED   37758766
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3316)
  AUTHORS   Oh,H., Lee,S., Oh,Y., Kim,S., Kim,Y.S., Yang,Y., Choi,W., Yoo,Y.E.,
            Cho,H., Lee,S., Yang,E., Koh,W., Won,W., Kim,R., Lee,C.J., Kim,H.,
            Kang,H., Kim,J.Y., Ku,T., Paik,S.B. and Kim,E.
  TITLE     Kv7/KCNQ potassium channels in cortical hyperexcitability and
            juvenile seizure-related death in Ank2-mutant mice
  JOURNAL   Nat Commun 14 (1), 3547 (2023)
   PUBMED   37321992
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3316)
  AUTHORS   Kneussel,M., Haverkamp,S., Fuhrmann,J.C., Wang,H., Wassle,H.,
            Olsen,R.W. and Betz,H.
  TITLE     The gamma-aminobutyric acid type A receptor (GABAAR)-associated
            protein GABARAP interacts with gephyrin but is not involved in
            receptor anchoring at the synapse
  JOURNAL   Proc Natl Acad Sci U S A 97 (15), 8594-8599 (2000)
   PUBMED   10900017
REFERENCE   7  (bases 1 to 3316)
  AUTHORS   Kneussel,M., Brandstatter,J.H., Laube,B., Stahl,S., Muller,U. and
            Betz,H.
  TITLE     Loss of postsynaptic GABA(A) receptor clustering in
            gephyrin-deficient mice
  JOURNAL   J Neurosci 19 (21), 9289-9297 (1999)
   PUBMED   10531433
REFERENCE   8  (bases 1 to 3316)
  AUTHORS   Serpinskaya,A.S., Feng,G., Sanes,J.R. and Craig,A.M.
  TITLE     Synapse formation by hippocampal neurons from agrin-deficient mice
  JOURNAL   Dev Biol 205 (1), 65-78 (1999)
   PUBMED   9882498
REFERENCE   9  (bases 1 to 3316)
  AUTHORS   Feng,G., Tintrup,H., Kirsch,J., Nichol,M.C., Kuhse,J., Betz,H. and
            Sanes,J.R.
  TITLE     Dual requirement for gephyrin in glycine receptor clustering and
            molybdoenzyme activity
  JOURNAL   Science 282 (5392), 1321-1324 (1998)
   PUBMED   9812897
REFERENCE   10 (bases 1 to 3316)
  AUTHORS   Ramming,M., Betz,H. and Kirsch,J.
  TITLE     Analysis of the promoter region of the murine gephyrin gene
  JOURNAL   FEBS Lett 405 (2), 137-140 (1997)
   PUBMED   9089277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC148324.2, BC127058.1 and CO043793.1.
            
            On Nov 28, 2009 this sequence version replaced NM_145965.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK144569.1, BC127058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AC148324.2         172175-172253
            80-2939             BC127058.1         2-2861
            2940-3316           CO043793.1         1-377               c
FEATURES             Location/Qualifiers
     source          1..3316
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 35.51 cM"
     gene            1..3316
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /note="gephyrin"
                     /db_xref="GeneID:268566"
                     /db_xref="MGI:MGI:109602"
     exon            1..187
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..2442
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /EC_number="2.10.1.1"
                     /EC_number="2.7.7.75"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="gephyrin isoform 1"
                     /protein_id="NP_666077.2"
                     /db_xref="CCDS:CCDS49095.1"
                     /db_xref="GeneID:268566"
                     /db_xref="MGI:MGI:109602"
                     /translation="MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQ
                     DPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKE
                     VIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILP
                     ALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEE
                     KKDSGVASTEDSSSSHITAAALAAKKHPFYTSPALFMANHGQPIPGLISYSHHATGSA
                     DKRIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKEN
                     ILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLA
                     QDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTG
                     APIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLA
                     KGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTL
                     LATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDI
                     DLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKM
                     QGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMR
                     SANGLLMLPPKTEQYVELHKGEVVDVMVIGRL"
     exon            188..266
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            267..324
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            325..417
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            418..512
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            513..579
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            580..852
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            853..960
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1095
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1138
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1276
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1369
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1425
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1545
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1604
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1758
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1759..1880
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1881..1968
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            1969..2042
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2107
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2211
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            2212..2308
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..3303
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3270..3275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /note="hexamer: AATAAA"
     polyA_site      3303
                     /gene="Gphn"
                     /gene_synonym="5730552E08Rik; C230040D23; geph; GPH;
                     GPHRYN"
                     /note="major polyA site"
ORIGIN      
        1 tcgcctcgcg ctccccgggc gccctcgctc tcgcgctctc caaggcaagc gcgctcccgg
       61 ccggcgcgct ccgggctccg gcttctcctg gctcctgtca gtgcggtgac tgcgctggga
      121 aacatggcga ccgagggaat gatcctcacc aaccacgacc atcaaatccg tgtcggagtc
      181 ctcacagtga gtgatagctg cttcaggaat cttgcagaag accgcagtgg gataaatcta
      241 aaagatcttg tccaagatcc ttctttgttg ggtgggacta tatcggcata caagatagta
      301 ccagatgaaa tagaagaaat caaggaaaca ctcatagact ggtgtgatga aaaggaactt
      361 aatttaatat taacaactgg aggaacgggg tttgcaccac gagatgtcac tccagaggcc
      421 acaaaagaag taatagagcg ggaagcgcca gggatggccc tggcaatgct gatgggatcg
      481 ctcaatgtca cacctctggg catgctctct agaccagtgt gtggaataag ggggaaaact
      541 ctgataatta acctacctgg tagcaagaaa ggatctcagg aatgctttca gttcatactg
      601 ccagctctac ctcatgccat tgacctttta cgtgatgcca ttgtaaaagt aaaggaggtg
      661 catgatgaac ttgaagattt accttcccca ccacctcctc tctctccacc tcctacaact
      721 agcccacata aacagacaga agacaaagga gttcagtgtg aagaagagga agaagaaaag
      781 aaagacagtg gtgtagcttc aacagaagat agttcctcat cacatataac tgcagcagct
      841 cttgctgcaa agaagcatcc attctacacc agtcctgctc ttttcatggc aaatcatggg
      901 cagcccatcc ctggtctcat cagttattcc catcatgcaa caggcagtgc agataaacgg
      961 attccagact ccatcatttc tcgtggtgtt caggtgctcc cacgagacac agcctccctt
     1021 agcactactc cttcagaatc gccccgtgct caggctacat ctcgcctctc tacagcttct
     1081 tgtccaacac caaaagtcca gtccaggtgc agcagcaagg agaacattct aagagccagt
     1141 cacagtgctg tagatatcac caaggtggct agaagacatc gcatgtctcc ttttcccctg
     1201 acgtctatgg acaaagcctt cattacagtc ctggagatga ctccggtgct tggtacagaa
     1261 atcatcaatt accgagatgg aatggggcga gtccttgctc aagatgtata tgcaaaagac
     1321 aacctacccc cattccctgc atcagtaaaa gatggctatg ctgttcgagc tgctgatggt
     1381 ccaggggatc gtttcatcat tggggaatcc caagctggtg agcagccaac tcagacagta
     1441 atgccaggac aagtgatgcg ggttacaaca ggtgctccaa tcccctgcgg tgctgatgca
     1501 gtagtgcaag ttgaagatac tgaactcatc agggaatcag atgatggtac tgaagaactt
     1561 gaagtacgaa ttctggtgca agctcggcca ggccaagata tccgacccat cggccatgac
     1621 attaagagag gggagtgtgt tttggccaaa ggaacccata tgggcccttc agagattggt
     1681 ctccttgcaa ctgtgggtgt cacagaagtg gaagttaata agtttccagt ggttgccgtt
     1741 atgtcaacag ggaatgagct gctaaatcct gaagatgatc tcttaccagg aaagattcgg
     1801 gacagcaatc gatcaacact tctagcaaca attcaggaac atggttaccc aacaatcaac
     1861 ctgggaattg taggagacaa cccagatgac ttactcaatg ccttgaatga gggtatcagc
     1921 cgtgctgatg tcatcatcac gtcaggaggt gtgtccatgg gggaaaagga ctatctcaag
     1981 caggtgctgg acattgatct tcatgctcag atccattttg gcagagtttt tatgaagcca
     2041 ggcttgccaa caacatttgc aactttggat attgatggtg taagaaaaat tatttttgca
     2101 ctaccaggga atcctgtatc agctgtggtc acctgcaacc tctttgttgt acctgcactg
     2161 agaaagatgc agggtatctt ggatcctcgg ccaaccatca tcaaagccag gttatcgtgt
     2221 gatgtaaaac tggaccctcg cccagaatac caccggtgta tactgacttg gcatcaccaa
     2281 gaaccactgc cctgggccca gagtacaggt aatcagatga gcagccgtct gatgagcatg
     2341 cgcagtgcca atggattatt gatgctacct ccaaagacag agcagtacgt ggaacttcac
     2401 aaaggcgagg tggtagatgt catggtcatt ggacggctat gatggtgacc aacaggagaa
     2461 agttttgatg catgtccaca tatcattgac tgtatcctgt aatatgcaac ggcacagcta
     2521 gtttttctga tctggataaa agttgatctg tatagtcaac atcttgaact atatttcaaa
     2581 tgaaatttaa atacctttta aagaaaaaaa aaacacctaa gaataaatct caacagacaa
     2641 ctctattctg attatatcaa agcaaaattt tcctttcttg caaattgctt tgtgtgttca
     2701 atgctaggtc tgatagcgat agcttttagt agacagcggt aggtgcctgc agaacttgtg
     2761 tttttctcat ctttaaatac aactacttat gctcttaatc aaggctgtct gcttctttat
     2821 actagtgtag gcaacacttg gatttccctt cttagtatgc ttcataactg ctttacagag
     2881 agcttttgct tgttctttat catgtatctc gtgtttatgt gcaccatgcc aaaagaggag
     2941 actgcgcgga ggccccatcc tgccactaga accttccctg ctgagcaccc agggaaggac
     3001 tcaccctagc agcctcaggc acagtactgg caggcagtaa ctggatacct tttatttgaa
     3061 caaacaaact gggggaaatg cttccttaag tgctgacagc ctttttaacc aacacattta
     3121 aaattgtaca gaacaaaaat aaaatcaaag actgatcttg tacagatatt agtgttacca
     3181 gcattcatgt ggaaatcaag agcaaaaaca aaataatgtt aaacaactct gtaccataac
     3241 attttctgta atgataatga aacttaatga ataaaaaaaa aatccttgat cattatttaa
     3301 aaaaaaaaaa aaaaaa
//
