LOCUS       NM_033423                936 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens granzyme H (GZMH), transcript variant 1, mRNA.
ACCESSION   NM_033423
VERSION     NM_033423.5
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 936)
  AUTHORS   Yu,D., Cai,W., Chen,X., Lu,D., Hu,M., Lu,T., Qin,B., Wu,A.,
            Ruan,H., Lu,Y., Liu,Z., Wei,L. and Lu,Z.
  TITLE     Natural Killer Cells Disrupt Nerve Fibers by Granzyme H in
            Atheriosclerotic Cerebral Small Vessel Disease
  JOURNAL   J Gerontol A Biol Sci Med Sci 78 (3), 414-423 (2023)
   PUBMED   36006802
  REMARK    GeneRIF: Natural Killer Cells Disrupt Nerve Fibers by Granzyme H in
            Atheriosclerotic Cerebral Small Vessel Disease.
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Ma,Y., Chen,X., Wang,A., Zhao,H., Lin,Q., Bao,H., Zhang,Y.,
            Hong,S., Tang,W., Huang,Y., Yang,Y., Wu,X., Shao,Y., Fang,W. and
            Zhang,L.
  TITLE     Copy number loss in granzyme genes confers resistance to immune
            checkpoint inhibitor in nasopharyngeal carcinoma
  JOURNAL   J Immunother Cancer 9 (3) (2021)
   PUBMED   33737344
  REMARK    GeneRIF: Copy number loss in granzyme genes confers resistance to
            immune checkpoint inhibitor in nasopharyngeal carcinoma.
REFERENCE   3  (bases 1 to 936)
  AUTHORS   Ronnberg,E., Calounova,G., Sutton,V.R., Trapani,J.A., Rollman,O.,
            Hagforsen,E. and Pejler,G.
  TITLE     Granzyme H is a novel protease expressed by human mast cells
  JOURNAL   Int Arch Allergy Immunol 165 (1), 68-74 (2014)
   PUBMED   25342632
REFERENCE   4  (bases 1 to 936)
  AUTHORS   Wang,L., Zhang,K., Wu,L., Liu,S., Zhang,H., Zhou,Q., Tong,L.,
            Sun,F. and Fan,Z.
  TITLE     Structural insights into the substrate specificity of human
            granzyme H: the functional roles of a novel RKR motif
  JOURNAL   J Immunol 188 (2), 765-773 (2012)
   PUBMED   22156497
  REMARK    GeneRIF: An unusual RKR motif (Arg39-Lys40-Arg41), conserved only
            in GzmH, helps define the S3' and S4' binding regions, indicating
            the preference for acidic residues at the P3' and P4' sites.
REFERENCE   5  (bases 1 to 936)
  AUTHORS   Romero,V., Fellows,E., Jenne,D.E. and Andrade,F.
  TITLE     Cleavage of La protein by granzyme H induces cytoplasmic
            translocation and interferes with La-mediated HCV-IRES
            translational activity
  JOURNAL   Cell Death Differ 16 (2), 340-348 (2009)
   PUBMED   19039329
  REMARK    GeneRIF: Cleavage of La protein by granzyme H generates a
            COOH-terminal truncated form of La protein that loses nuclear
            localization and decreases hepatitis C virus-internal ribosome
            entry site-mediated translational activity.
REFERENCE   6  (bases 1 to 936)
  AUTHORS   Heusel,J.W., Hanson,R.D., Silverman,G.A. and Ley,T.J.
  TITLE     Structure and expression of a cluster of human hematopoietic serine
            protease genes found on chromosome 14q11.2
  JOURNAL   J Biol Chem 266 (10), 6152-6158 (1991)
   PUBMED   2007574
REFERENCE   7  (bases 1 to 936)
  AUTHORS   Haddad,P., Jenne,D., Tschopp,J., Clement,M.V., Mathieu-Mahul,D. and
            Sasportes,M.
  TITLE     Structure and evolutionary origin of the human granzyme H gene
  JOURNAL   Int Immunol 3 (1), 57-66 (1991)
   PUBMED   2049336
REFERENCE   8  (bases 1 to 936)
  AUTHORS   Meier,M., Kwong,P.C., Fregeau,C.J., Atkinson,E.A., Burrington,M.,
            Ehrman,N., Sorensen,O., Lin,C.C., Wilkins,J. and Bleackley,R.C.
  TITLE     Cloning of a gene that encodes a new member of the human cytotoxic
            cell protease family
  JOURNAL   Biochemistry 29 (17), 4042-4049 (1990)
   PUBMED   2193684
REFERENCE   9  (bases 1 to 936)
  AUTHORS   Klein,J.L., Selvakumar,A., Trapani,J.A. and Dupont,B.
  TITLE     Characterization of a novel, human cytotoxic lymphocyte-specific
            serine protease cDNA clone (CSP-C)
  JOURNAL   Tissue Antigens 35 (5), 220-228 (1990)
   PUBMED   2402757
REFERENCE   10 (bases 1 to 936)
  AUTHORS   Hanson,R.D., Hohn,P.A., Popescu,N.C. and Ley,T.J.
  TITLE     A cluster of hematopoietic serine protease genes is found on the
            same chromosomal band as the human alpha/delta T-cell receptor
            locus
  JOURNAL   Proc Natl Acad Sci U S A 87 (3), 960-963 (1990)
   PUBMED   2300587
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ054303.1, BC027974.1 and
            AW204493.1.
            
            On Nov 24, 2018 this sequence version replaced NM_033423.4.
            
            Summary: This gene encodes a member of the peptidase S1 family of
            serine proteases. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate a chymotrypsin-like
            protease. This protein is reported to be constitutively expressed
            in the NK (natural killer) cells of the immune system and may play
            a role in the cytotoxic arm of the innate immune response by
            inducing target cell death and by directly cleaving substrates in
            pathogen-infected cells. This gene is present in a gene cluster
            with another member of the granzyme subfamily on chromosome 14.
            [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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##
            Transcript exon combination :: BQ054303.1, SRR5189664.11848.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216338.9/ ENSP00000216338.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                BQ054303.1         36-62
            28-892              BC027974.1         1-865
            893-936             AW204493.1         17-60               c
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..936
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /note="granzyme H"
                     /db_xref="GeneID:2999"
                     /db_xref="HGNC:HGNC:4710"
                     /db_xref="MIM:116831"
     exon            1..127
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..813
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; cytotoxic T-lymphocyte-associated serine
                     esterase 1; cytotoxin serine protease-C; cytotoxic
                     T-lymphocyte proteinase; cathepsin G-like 2, protein
                     h-CCPX"
                     /codon_start=1
                     /product="granzyme H isoform 1 preproprotein"
                     /protein_id="NP_219491.1"
                     /db_xref="CCDS:CCDS9632.1"
                     /db_xref="GeneID:2999"
                     /db_xref="HGNC:HGNC:4710"
                     /db_xref="MIM:116831"
                     /translation="MQPFLLLLAFLLTPGAGTEEIIGGHEAKPHSRPYMAFVQFLQEK
                     SRKRCGGILVRKDFVLTAAHCQGSSINVTLGAHNIKEQERTQQFIPVKRPIPHPAYNP
                     KNFSNDIMLLQLERKAKWTTAVRPLRLPSSKAQVKPGQLCSVAGWGYVSMSTLATTLQ
                     EVLLTVQKDCQCERLFHGNYSRATEICVGDPKKTQTGFKGDSGGPLVCKDVAQGILSY
                     GNKKGTPPGVYIKVSHFLPWIKRTMKRL"
     exon            128..275
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /inference="alignment:Splign:2.1.0"
     exon            276..411
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /inference="alignment:Splign:2.1.0"
     exon            412..669
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /inference="alignment:Splign:2.1.0"
     exon            670..936
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      909..914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /note="hexamer: AATAAA"
     polyA_site      936
                     /gene="GZMH"
                     /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2"
                     /note="major polyA site"
ORIGIN      
        1 atctccctcc agcatttgtt tctggaagga gtcaacacca acagctctga cctgggcagc
       61 cttcctgaga aaatgcagcc attcctcctc ctgttggcct ttcttctgac ccctggggct
      121 gggacagagg agatcatcgg gggccatgag gccaagcccc actcccgccc ctacatggcc
      181 tttgttcagt ttctgcaaga gaagagtcgg aagaggtgtg gcggcatcct agtgagaaag
      241 gactttgtgc tgacagctgc tcactgccag ggaagctcca taaatgtcac cttgggggcc
      301 cacaatatca aggaacagga gcggacccag cagtttatcc ctgtgaaaag acccatcccc
      361 catccagcct ataatcctaa gaacttctcc aacgacatca tgctactgca gctggagaga
      421 aaggccaagt ggaccacagc tgtgcggcct ctcaggctac ctagcagcaa ggcccaggtg
      481 aagccagggc agctgtgcag tgtggctggc tggggttatg tctcaatgag cactttagca
      541 accacactgc aggaagtgtt gctgacagtg cagaaggact gccagtgtga acgtctcttc
      601 catggcaatt acagcagagc cactgagatt tgtgtggggg atccaaagaa gacacagacc
      661 ggtttcaagg gggactccgg ggggcccctc gtgtgtaagg acgtagccca aggtattctc
      721 tcctatggaa acaaaaaagg gacacctcca ggagtctaca tcaaggtctc acacttcctg
      781 ccctggataa agagaacaat gaagcgcctc taacagcagg catgagacta accttcctct
      841 gggcctgacc atctctggga cagaggcaag aatccccaag gggtgggcag tcggggttgc
      901 aggactgtaa taaatggatc tctggtgtaa atatga
//
