LOCUS       NM_022078               2125 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens G-patch domain containing 3 (GPATCH3), mRNA.
ACCESSION   NM_022078
VERSION     NM_022078.3
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 2125)
  AUTHORS   Nie,Y., Ran,Y., Zhang,H.Y., Huang,Z.F., Pan,Z.Y., Wang,S.Y. and
            Wang,Y.Y.
  TITLE     GPATCH3 negatively regulates RLR-mediated innate antiviral
            responses by disrupting the assembly of VISA signalosome
  JOURNAL   PLoS Pathog 13 (4), e1006328 (2017)
   PUBMED   28414768
  REMARK    GeneRIF: GPATCH3 interacts with VISA and disrupts the assembly of
            virus-induced VISA signalosome therefore acts as a negative
            regulator of RLR-mediated innate antiviral immune responses.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2125)
  AUTHORS   Ferre-Fernandez,J.J., Aroca-Aguilar,J.D., Medina-Trillo,C.,
            Bonet-Fernandez,J.M., Mendez-Hernandez,C.D., Morales-Fernandez,L.,
            Corton,M., Cabanero-Valera,M.J., Gut,M., Tonda,R., Ayuso,C.,
            Coca-Prados,M., Garcia-Feijoo,J. and Escribano,J.
  TITLE     Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals
            Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and
            Craniofacial Development
  JOURNAL   Sci Rep 7, 46175 (2017)
   PUBMED   28397860
  REMARK    GeneRIF: The results show the existence of high genetic
            heterogeneity in congenital glaucoma and the role of GPATCH3 in
            this disease. GPATCH3 is a new gene involved in ocular and
            craniofacial development.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA513389.1, BC007767.2 and AW137695.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022078.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR936767.1, AL833886.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361720.10/ ENSP00000354645.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DA513389.1         5-24
            21-2123             BC007767.2         1-2103
            2124-2125           AW137695.1         17-18               c
FEATURES             Location/Qualifiers
     source          1..2125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2125
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /note="G-patch domain containing 3"
                     /db_xref="GeneID:63906"
                     /db_xref="HGNC:HGNC:25720"
                     /db_xref="MIM:617486"
     exon            1..476
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1603
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /codon_start=1
                     /product="G patch domain-containing protein 3"
                     /protein_id="NP_071361.2"
                     /db_xref="CCDS:CCDS290.1"
                     /db_xref="GeneID:63906"
                     /db_xref="HGNC:HGNC:25720"
                     /db_xref="MIM:617486"
                     /translation="MAVPGEAEEEATVYLVVSGIPSVLRSAHLRSYFSQFREERGGGF
                     LCFHYRHRPERAPPQAAPNSALIPTDPAAEGQLLSQTSATDVRPLSTRDSTPIQTRTC
                     CCVISVRGLAQAQRLIRMYSGRRWLDSHGTWLPGRCLIRRLRLPTEASGLGSFPFKTR
                     KELQSWKAENEAFTLADLKQLPELNPPVLMPRGNVGTPLRVFLELIRACRLPPRIITQ
                     LQLQFPKTGSSRRYGNVPFEYEDSETVEQEELVYTAEGEEIPQGTYLADIPASPCGEP
                     EEEVGKEEEEESHSDEDDDRGEEWERHEALHEDVTGQERTTEQLFEEEIELKWEKGGS
                     GLVFYTDAQFWQEEEGDFDEQTADDWDVDMSVYYDRDGGDKDARDSVQMRLEQRLRDG
                     QEDGSVIERQVGTFERHTKGIGRKVMERQGWAEGQGLGCRCSGVPEALDSDGQHPRCK
                     RGLGYHGEKLQPFGQLKRPRRNGLGLISTIYDEPLPQDQTESLLRRQPPTSMKFRTDM
                     AFVRGSSCASDSPSLPD"
     exon            477..901
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1076
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1136
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1258
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1386
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..2125
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2104..2109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /note="hexamer: AATAAA"
     polyA_site      2125
                     /gene="GPATCH3"
                     /gene_synonym="GPATC3"
                     /note="major polyA site"
ORIGIN      
        1 ctagctgatc atgtgacaat ccaagatggc ggtgcccggc gaggcggagg aggaggcgac
       61 agtttacctg gtagtgagcg gtatcccctc cgtgttgcgc tcggcccatt tacggagcta
      121 ttttagccag ttccgagaag agcgcggcgg tggcttcctc tgtttccact accggcatcg
      181 gcctgagcgg gcccctccgc aggccgctcc taactctgcc ctaattccta ccgacccagc
      241 cgctgagggc cagcttctct ctcagacttc ggccaccgat gtccggcctc tctccactcg
      301 agactctact ccaatccaga cccgcacctg ctgctgcgtc atctcggtaa gggggttggc
      361 tcaagctcag aggcttattc gcatgtactc gggccgccgg tggctggatt ctcacgggac
      421 ttggctaccg ggtcgctgtc tcatccgcag acttcggcta cctacggagg catcaggtct
      481 gggctccttt cccttcaaga cccggaagga actgcagagt tggaaggcag agaatgaagc
      541 cttcaccctg gctgacctga agcaactgcc ggagctgaac ccaccagtgc tgatgcccag
      601 agggaatgtg gggactcccc tgcgggtctt tttggagttg atccgggcct gccgcctacc
      661 ccctcggatc atcacccagc tgcagctcca gttccccaag acaggttcct cccggcgcta
      721 cggcaatgtg ccttttgagt atgaggactc agagactgtg gagcaggaag agcttgtgta
      781 tacagcagag ggtgaagaaa taccccaagg aacctacctg gcagatatac cagccagccc
      841 ctgtggagag cctgaggaag aagtggggaa ggaagaggaa gaagagtctc actcagatga
      901 ggacgatgac cggggtgagg aatgggaacg gcatgaagcg ctgcatgagg acgtgaccgg
      961 gcaggagcgg accactgagc agctctttga ggaggagatt gagctcaagt gggagaaggg
     1021 tggctctggc ctggtgtttt atactgatgc ccagttctgg caggaggaag aaggagattt
     1081 tgatgaacag acagccgatg actgggatgt ggacatgagt gtgtactatg acagagatgg
     1141 tggagacaag gatgcccgag actctgtcca aatgcgtctg gaacagagac tccgagatgg
     1201 acaggaagat ggctctgtga tcgaacgcca ggtgggcacc tttgagcgcc acaccaaggg
     1261 cattgggcgg aaggtgatgg agcggcaggg ctgggctgag ggccagggcc tgggctgcag
     1321 gtgctcaggg gtgcctgagg ccctggatag tgatggccaa caccccagat gcaagcgtgg
     1381 attggggtac catggagaga agctacagcc atttgggcaa ctgaagaggc cccgtagaaa
     1441 tggcttgggg ctcatctcca ccatctatga tgagcctcta ccccaagacc agacggagtc
     1501 actgctccgc cgccagccac ccaccagcat gaagtttcgg acagacatgg cctttgtgag
     1561 gggttccagt tgtgcttcag acagcccctc attgcctgac tgaccgggtt gggggcttcc
     1621 tttcatagct acatgatgaa aaccctctgc cctggcctca tctaccactg aagcagaaag
     1681 gagtctggga gcagcagtct tcgtggctgg ttcagggtgt tttgttccga gcctgcctgc
     1741 ctgccggttc tatacctcag gggcattttt acaaaaagcc ccctcccgtc ccctcccctt
     1801 ggatattagg ggtaacgacc gcttgtcttt ggtctctaac cctaatctct gggcttgccc
     1861 tttgcctcct gcagaacttt gaaaagctgg gttgagtgag gctatcagca cagccttcct
     1921 tggggactct gaaggtgtcc ccacgaaggc cagaaagggg gaaagggacc tgggcgagga
     1981 gaggatttgt ggtgcttgga agagccggcc ttgggtgggc cctccaccgc ctctaccctc
     2041 actgggtggg actgccagcg gagagtccgc gggaggtggc ttgggtgtgc gacgtcacgg
     2101 aagaataaag acgtttacta ctgga
//
