LOCUS       NM_000171               1812 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens glycine receptor alpha 1 (GLRA1), transcript variant
            2, mRNA.
ACCESSION   NM_000171
VERSION     NM_000171.4
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 1812)
  AUTHORS   Liu,X. and Wang,W.
  TITLE     Gating mechanism of the human alpha1beta GlyR by glycine
  JOURNAL   Structure 32 (10), 1621-1631 (2024)
   PUBMED   39146932
  REMARK    GeneRIF: Gating mechanism of the human alpha1beta GlyR by glycine.
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Tezen,D., Simsir,G., Cokar,O., Demirbilek,V., Basak,A.N. and
            Yapici,Z.
  TITLE     Four Turkish families with hyperekplexia: A missense mutation and
            the exon 1-7 deletion in the GLRA1 gene
  JOURNAL   Parkinsonism Relat Disord 105, 128-131 (2022)
   PUBMED   36434917
  REMARK    GeneRIF: Four Turkish families with hyperekplexia: A missense
            mutation and the exon 1-7 deletion in the GLRA1 gene.
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Aboheimed,G.I., AlRasheed,M.M., Almudimeegh,S., Pena-Guerra,K.A.,
            Cardona-Londono,K.J., Salih,M.A., Seidahmed,M.Z., Al-Mohanna,F.,
            Colak,D., Harvey,R.J., Harvey,K., Arold,S.T., Kaya,N. and Ruiz,A.J.
  TITLE     Clinical, genetic, and functional characterization of the glycine
            receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome
  JOURNAL   J Biol Chem 298 (7), 102018 (2022)
   PUBMED   35526563
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Wu,Z., Lape,R., Jopp-Saile,L., O'Callaghan,B.J., Greiner,T. and
            Sivilotti,L.G.
  TITLE     The startle disease mutation alpha1S270T predicts shortening of
            glycinergic synaptic currents
  JOURNAL   J Physiol 598 (16), 3417-3438 (2020)
   PUBMED   32445491
  REMARK    GeneRIF: The startle disease mutation alpha1S270T predicts
            shortening of glycinergic synaptic currents.
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   Langlhofer,G., Schaefer,N., Maric,H.M., Keramidas,A., Zhang,Y.,
            Baumann,P., Blum,R., Breitinger,U., Stromgaard,K., Schlosser,A.,
            Kessels,M.M., Koch,D., Qualmann,B., Breitinger,H.G., Lynch,J.W. and
            Villmann,C.
  TITLE     A Novel Glycine Receptor Variant with Startle Disease Affects
            Syndapin I and Glycinergic Inhibition
  JOURNAL   J Neurosci 40 (25), 4954-4969 (2020)
   PUBMED   32354853
  REMARK    GeneRIF: A Novel Glycine Receptor Variant with Startle Disease
            Affects Syndapin I and Glycinergic Inhibition.
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   Ryan,S.G., Dixon,M.J., Nigro,M.A., Kelts,K.A., Markand,O.N.,
            Terry,J.C., Shiang,R., Wasmuth,J.J. and O'Connell,P.
  TITLE     Genetic and radiation hybrid mapping of the hyperekplexia region on
            chromosome 5q
  JOURNAL   Am J Hum Genet 51 (6), 1334-1343 (1992)
   PUBMED   1334371
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   Ryan,S.G., Sherman,S.L., Terry,J.C., Sparkes,R.S., Torres,M.C. and
            Mackey,R.W.
  TITLE     Startle disease, or hyperekplexia: response to clonazepam and
            assignment of the gene (STHE) to chromosome 5q by linkage analysis
  JOURNAL   Ann Neurol 31 (6), 663-668 (1992)
   PUBMED   1355335
REFERENCE   9  (bases 1 to 1812)
  AUTHORS   Ruiz-Gomez,A., Vaello,M.L., Valdivieso,F. and Mayor,F. Jr.
  TITLE     Phosphorylation of the 48-kDa subunit of the glycine receptor by
            protein kinase C
  JOURNAL   J Biol Chem 266 (1), 559-566 (1991)
   PUBMED   1845981
REFERENCE   10 (bases 1 to 1812)
  AUTHORS   Grenningloh,G., Schmieden,V., Schofield,P.R., Seeburg,P.H.,
            Siddique,T., Mohandas,T.K., Becker,C.M. and Betz,H.
  TITLE     Alpha subunit variants of the human glycine receptor: primary
            structures, functional expression and chromosomal localization of
            the corresponding genes
  JOURNAL   EMBO J 9 (3), 771-776 (1990)
   PUBMED   2155780
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010312.5, X52009.1,
            AK312702.1, BC074980.2 and AK226046.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000171.3.
            
            Summary: The protein encoded by this gene is a subunit of a
            pentameric inhibitory glycine receptor, which mediates postsynaptic
            inhibition in the central nervous system. Defects in this gene are
            a cause of startle disease (STHE), also known as hereditary
            hyperekplexia or congenital stiff-person syndrome. Multiple
            transcript variants encoding different isoforms have been found.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the 5' end of the last exon compared to variant 1.
            The resulting isoform (2) has the same N- and C-termini but is
            shorter compared to 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 :: AK312702.1, BC074980.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142670 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274576.9/ ENSP00000274576.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC010312.5         53673-53687         c
            16-89               X52009.1           8-81
            90-1652             AK312702.1         1-1563
            1653-1700           BC074980.2         1392-1439
            1701-1812           AK226046.1         1558-1669
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..1812
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="glycine receptor alpha 1"
                     /db_xref="GeneID:2741"
                     /db_xref="HGNC:HGNC:4326"
                     /db_xref="MIM:138491"
     exon            1..358
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..1652
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; glycine receptor subunit alpha-1; glycine
                     receptor 48 kDa subunit; glycine receptor
                     strychnine-binding subunit"
                     /codon_start=1
                     /product="glycine receptor subunit alpha-1 isoform 2
                     precursor"
                     /protein_id="NP_000162.2"
                     /db_xref="CCDS:CCDS4320.1"
                     /db_xref="GeneID:2741"
                     /db_xref="HGNC:HGNC:4326"
                     /db_xref="MIM:138491"
                     /translation="MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDK
                     LMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLA
                     YNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
                     TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILK
                     EEKDLRYCTKHYNTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDA
                     APARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNF
                     VSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTN
                     PPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ"
     exon            359..486
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            487..554
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            555..778
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            779..861
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            862..999
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1214
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1361
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1812
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agcgccgcag ggagccaaca gacacgctgg agtttaacaa acagcaatac tcttcgcgct
       61 cctgaaaagc aggtctggac gctctccgtg gtgctgaaac gcctcgcagc cgccgctgtc
      121 cgtggtatct acgaccccct cgctccaatt tcccctgggg ctctccctcc gcgcccctgt
      181 tccccgcctc cctttaacat ctggattatt ttttgcaata gcgctttctg gttttgtaag
      241 tgccaatttg aaacattttt gcccccataa ctcgtggact acaaagcaca aggacctgaa
      301 aaatgtacag cttcaatact cttcgactct acctttggga gaccattgta ttcttcagcc
      361 ttgctgcttc taaggaggct gaagctgctc gctccgcacc caagcctatg tcaccctcgg
      421 atttcctgga taagctaatg gggagaacct ccggatatga tgccaggatc aggcccaatt
      481 ttaaaggtcc cccagtgaac gtgagctgca acattttcat caacagcttt ggttccattg
      541 ctgagacaac catggactat agggtcaaca tcttcctgcg gcagcaatgg aacgaccccc
      601 gcctggccta taatgaatac cctgacgact ctctggacct ggacccatcc atgctggact
      661 ccatctggaa acctgacctg ttctttgcca acgagaaggg ggcccacttc catgagatca
      721 ccacagacaa caaattgcta aggatctccc ggaatgggaa tgtcctctac agcatcagaa
      781 tcaccctgac actggcctgc cccatggact tgaagaattt ccccatggat gtccagacat
      841 gtatcatgca actggaaagc tttggatata cgatgaatga cctcatcttt gagtggcagg
      901 aacagggagc cgtgcaggta gcagatggac taactctgcc ccagtttatc ttgaaggaag
      961 agaaggactt gagatactgc accaagcact acaacacagg taaattcacc tgcattgagg
     1021 cccggttcca cctggagcgg cagatgggtt actacctgat tcagatgtat attcccagcc
     1081 tgctcattgt catcctctca tggatctcct tctggatcaa catggatgct gcacctgctc
     1141 gtgtgggcct aggcatcacc actgtgctca ccatgaccac ccagagctcc ggctctcgag
     1201 catctctgcc caaggtgtcc tatgtgaaag ccattgacat ttggatggca gtttgcctgc
     1261 tctttgtgtt ctcagcccta ttagaatatg ctgccgttaa ctttgtgtct cggcaacata
     1321 aggagctgct ccgattcagg aggaagcgga gacatcacaa ggaggatgaa gctggagaag
     1381 gccgctttaa cttctctgcc tatgggatgg gcccagcctg tctacaggcc aaggatggca
     1441 tctcagtcaa gggcgccaac aacagtaaca ccaccaaccc ccctcctgca ccatctaagt
     1501 ccccagagga gatgcgaaaa ctcttcatcc agagggccaa gaagatcgac aaaatatccc
     1561 gcattggctt ccccatggcc ttcctcattt tcaacatgtt ctactggatc atctacaaga
     1621 ttgtccgtag agaggacgtc cacaaccagt gaagggtctg aaaggttggg ggaggctggg
     1681 agaggggaac gtgggaatag cacaggaatc tgagagacta aggaagagaa ggggaacgga
     1741 gggagggggc acacttacac aactctctct gcaatatgtg caatagcaaa atgcagtgat
     1801 gcatgaattt ta
//
