LOCUS       NM_006433                777 bp    mRNA    linear   PRI 23-APR-2024
DEFINITION  Homo sapiens granulysin (GNLY), transcript variant 2, mRNA.
ACCESSION   NM_006433
VERSION     NM_006433.5
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 777)
  AUTHORS   Jiao,B., Zhang,H., Jiang,H., Liu,S., Wang,Y., Chen,Y., Duan,H.,
            Niu,Y., Shen,M., Wang,H. and Dai,Y.
  TITLE     Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions
            activity exacerbating skin damage in trichloroethylene
            hypersensitivity syndrome
  JOURNAL   Ecotoxicol Environ Saf 274, 116174 (2024)
   PUBMED   38471344
  REMARK    GeneRIF: Granulysin-mediated reduction of PDZRN3 induces Cx43 gap
            junctions activity exacerbating skin damage in trichloroethylene
            hypersensitivity syndrome.
REFERENCE   2  (bases 1 to 777)
  AUTHORS   Khalid,H.N., Elghobashy,Y.A.E. and Elsayed,A.N.
  TITLE     GNLY gene polymorphism: A potential role in understanding psoriasis
            pathogenesis
  JOURNAL   J Cosmet Dermatol 21 (10), 4805-4809 (2022)
   PUBMED   35066979
  REMARK    GeneRIF: GNLY gene polymorphism: A potential role in understanding
            psoriasis pathogenesis.
REFERENCE   3  (bases 1 to 777)
  AUTHORS   Yu,R., Zhang,J., Zhuo,Y., Hong,X., Ye,J., Tang,S. and Zhang,Y.
  TITLE     Identification of Diagnostic Signatures and Immune Cell
            Infiltration Characteristics in Rheumatoid Arthritis by Integrating
            Bioinformatic Analysis and Machine-Learning Strategies
  JOURNAL   Front Immunol 12, 724934 (2021)
   PUBMED   34691030
  REMARK    GeneRIF: Identification of Diagnostic Signatures and Immune Cell
            Infiltration Characteristics in Rheumatoid Arthritis by Integrating
            Bioinformatic Analysis and Machine-Learning Strategies.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 777)
  AUTHORS   Noschka,R., Wondany,F., Kizilsavas,G., Weil,T., Weidinger,G.,
            Walther,P., Michaelis,J. and Stenger,S.
  TITLE     Gran1: A Granulysin-Derived Peptide with Potent Activity against
            Intracellular Mycobacterium tuberculosis
  JOURNAL   Int J Mol Sci 22 (16), 8392 (2021)
   PUBMED   34445098
  REMARK    GeneRIF: Gran1: A Granulysin-Derived Peptide with Potent Activity
            against Intracellular Mycobacterium tuberculosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 777)
  AUTHORS   Hernandez-Castaneda,M.A., Lavergne,M., Casanova,P., Nydegger,B.,
            Merten,C., Subramanian,B.Y., Matthey,P., Lannes,N., Mantel,P.Y. and
            Walch,M.
  TITLE     A Profound Membrane Reorganization Defines Susceptibility of
            Plasmodium falciparum Infected Red Blood Cells to Lysis by
            Granulysin and Perforin
  JOURNAL   Front Immunol 12, 643746 (2021)
   PUBMED   34093532
  REMARK    GeneRIF: A Profound Membrane Reorganization Defines Susceptibility
            of Plasmodium falciparum Infected Red Blood Cells to Lysis by
            Granulysin and Perforin.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 777)
  AUTHORS   Krensky,A.M.
  TITLE     Granulysin: a novel antimicrobial peptide of cytolytic T
            lymphocytes and natural killer cells
  JOURNAL   Biochem Pharmacol 59 (4), 317-320 (2000)
   PUBMED   10644038
  REMARK    GeneRIF: Peptides encoded by this gene display antimicrobial
            activity against S. typhimurium, L. monocytogenes, E. coli, S.
            aureus, C. neoformans, C. albicans, L. major, and M. tuberculosis.
            Review article
REFERENCE   7  (bases 1 to 777)
  AUTHORS   Houchins,J.P., Kricek,F., Chujor,C.S., Heise,C.P., Yabe,T.,
            McSherry,C. and Bach,F.H.
  TITLE     Genomic structure of NKG5, a human NK and T cell-specific
            activation gene
  JOURNAL   Immunogenetics 37 (2), 102-107 (1993)
   PUBMED   8423048
REFERENCE   8  (bases 1 to 777)
  AUTHORS   Yabe,T., McSherry,C., Bach,F.H. and Houchins,J.P.
  TITLE     A cDNA clone expressed in natural killer and T cells that likely
            encodes a secreted protein
  JOURNAL   J Exp Med 172 (4), 1159-1163 (1990)
   PUBMED   2212946
REFERENCE   9  (bases 1 to 777)
  AUTHORS   Donlon,T.A., Krensky,A.M. and Clayberger,C.
  TITLE     Localization of the human T lymphocyte activation gene 519 (D2S69E)
            to chromosome 2p12----q11
  JOURNAL   Cytogenet Cell Genet 53 (4), 230-231 (1990)
   PUBMED   2209093
REFERENCE   10 (bases 1 to 777)
  AUTHORS   Jongstra,J., Schall,T.J., Dyer,B.J., Clayberger,C., Jorgensen,J.,
            Davis,M.M. and Krensky,A.M.
  TITLE     The isolation and sequence of a novel gene from a human functional
            T cell line
  JOURNAL   J Exp Med 165 (3), 601-614 (1987)
   PUBMED   2434598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X54101.1, BQ015680.1 and
            AC012454.8.
            
            On Jun 2, 2019 this sequence version replaced NM_006433.4.
            
            Summary: The product of this gene is a member of the saposin-like
            protein (SAPLIP) family and is located in the cytotoxic granules of
            T cells, which are released upon antigen stimulation. This protein
            is present in cytotoxic granules of cytotoxic T lymphocytes and
            natural killer cells, and it has antimicrobial activity against M.
            tuberculosis and other organisms. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' end compared to variant 1. The resulting isoform (2,
            also known as NKG5) 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 :: DRR138524.66345.1, DRR138524.26262.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000263863.9/
                                                  ENSP00000263863.5
            Protein has antimicrobial activity :: PMID: 10644038
            RefSeq Select criteria             :: based on manual assertion,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-672               X54101.1           68-739
            673-729             BQ015680.1         67-123              c
            730-730             AC012454.8         90974-90974
            731-776             BQ015680.1         20-65               c
            777-777             AC012454.8         91021-91021
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..777
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /note="granulysin"
                     /db_xref="GeneID:10578"
                     /db_xref="HGNC:HGNC:4414"
                     /db_xref="MIM:188855"
     exon            1..113
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..499
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; T-lymphocyte activation gene 519;
                     lymphocyte-activation gene 2; lymphokine LAG-2; T-cell
                     activation protein 519"
                     /codon_start=1
                     /product="granulysin isoform 2 precursor"
                     /protein_id="NP_006424.2"
                     /db_xref="CCDS:CCDS1984.1"
                     /db_xref="GeneID:10578"
                     /db_xref="HGNC:HGNC:4414"
                     /db_xref="MIM:188855"
                     /translation="MATWALLLLAAMLLGNPGLVFSRLSPEYYDLARAHLRDEEKSCP
                     CLAQEGPQGDLLTKTQELGRDYRTCLTIVQKLKKMVDKPTQRSVSNAATRVCRTGRSR
                     WRDVCRNFMRRYQSRVTQGLVAGETAQQICEDLRLCIPSTGPL"
     exon            114..217
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /inference="alignment:Splign:2.1.0"
     exon            218..316
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /inference="alignment:Splign:2.1.0"
     exon            317..488
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /inference="alignment:Splign:2.1.0"
     exon            489..777
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /inference="alignment:Splign:2.1.0"
     regulatory      654..659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /note="hexamer: AATAAA"
     polyA_site      672
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /note="major polyA site"
     regulatory      754..759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
                     /note="hexamer: AATAAA"
     polyA_site      777
                     /gene="GNLY"
                     /gene_synonym="D2S69E; LAG-2; LAG2; NKG5; TLA519"
ORIGIN      
        1 aagctgcagg ctccctgccc ataaaacagg gtgtgaaagg catctcagcg gctgccccac
       61 catggctacc tgggccctcc tgctccttgc agccatgctc ctgggcaacc caggtctggt
      121 cttctctcgt ctgagccctg agtactacga cctggcaaga gcccacctgc gtgatgagga
      181 gaaatcctgc ccgtgcctgg cccaggaggg cccccagggt gacctgttga ccaaaacaca
      241 ggagctgggc cgtgactaca ggacctgtct gacgatagtc caaaaactga agaagatggt
      301 ggataagccc acccagagaa gtgtttccaa tgctgcgacc cgggtgtgta ggacggggag
      361 gtcacgatgg cgcgacgtct gcagaaattt catgaggagg tatcagtcta gagttaccca
      421 gggcctcgtg gccggagaaa ctgcccagca gatctgtgag gacctcaggt tgtgtatacc
      481 ttctacaggt cccctctgag ccctctcacc ttgtcctgtg gaagaagcac aggctcctgt
      541 cctcagatcc cgggaacctc agcaacctct gccggctcct cgcttcctcg atccagaatc
      601 cactctccag tctccctccc ctgactccct ctgctgtcct cccctctcac gagaataaag
      661 tgtcaagcaa gattttagcc gcagctgctt cttctttggt ggatttgagg ggtgggtgtc
      721 agtggcatgc tggggtgagc tgtgtagtcc ttcaataaat gtctgtcgtg tgtccca
//
