LOCUS       NM_004131                891 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens granzyme B (GZMB), transcript variant 1, mRNA.
ACCESSION   NM_004131
VERSION     NM_004131.6
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 891)
  AUTHORS   Rizk,S.K., Farag,A.G.A., El-Ghlban,S. and Eldin Metwally,I.S.
  TITLE     Identifying the association between polymorphisms in the GZMB and
            IFIH1 genes and psoriasis in Egyptians
  JOURNAL   J Immunoassay Immunochem 45 (3), 189-209 (2024)
   PUBMED   38733267
  REMARK    GeneRIF: Identifying the association between polymorphisms in the
            GZMB and IFIH1 genes and psoriasis in Egyptians.
REFERENCE   2  (bases 1 to 891)
  AUTHORS   Thulin,H., Safholm,J., Lundahl,J., Jovic,V., Adner,M. and
            Nilsson,C.
  TITLE     Granzyme B is elevated in esophageal biopsies from children with
            eosinophilic esophagitis
  JOURNAL   J Pediatr Gastroenterol Nutr 78 (2), 313-319 (2024)
   PUBMED   38374566
  REMARK    GeneRIF: Granzyme B is elevated in esophageal biopsies from
            children with eosinophilic esophagitis.
REFERENCE   3  (bases 1 to 891)
  AUTHORS   Le,M.K., Oishi,N., Satou,A., Miyaoka,M., Kawashima,I.,
            Mochizuki,K., Kirito,K., Feldman,A.L., Nakamura,N. and Kondo,T.
  TITLE     Molecular and clinicopathological features of granzyme B-negative
            extranodal NK/T-cell lymphoma
  JOURNAL   Hum Pathol 143, 10-16 (2024)
   PUBMED   38000677
  REMARK    GeneRIF: Molecular and clinicopathological features of granzyme
            B-negative extranodal NK/T-cell lymphoma.
            Review article
REFERENCE   4  (bases 1 to 891)
  AUTHORS   Sweed,D., Mohamady,M., Gouda,M.A., Fayed,Y., Saied,S.A. and
            Elhamed,S.M.A.
  TITLE     Does the expression of granzyme B participate in inflammation,
            fibrosis, and fertility of hydatid cysts?
  JOURNAL   Parasitol Res 123 (1), 22 (2023)
   PUBMED   38072840
  REMARK    GeneRIF: Does the expression of granzyme B participate in
            inflammation, fibrosis, and fertility of hydatid cysts?
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 891)
  AUTHORS   Dawodu,D., Sand,S., Nikolouli,E., Werfel,T. and Mommert,S.
  TITLE     The mRNA expression and secretion of granzyme B are up-regulated
            via the histamine H2 receptor in human CD4+ T cells
  JOURNAL   Inflamm Res 72 (8), 1525-1538 (2023)
   PUBMED   37470818
  REMARK    GeneRIF: The mRNA expression and secretion of granzyme B are
            up-regulated via the histamine H2 receptor in human CD4[+] T cells.
REFERENCE   6  (bases 1 to 891)
  AUTHORS   Poe,M., Blake,J.T., Boulton,D.A., Gammon,M., Sigal,N.H., Wu,J.K.
            and Zweerink,H.J.
  TITLE     Human cytotoxic lymphocyte granzyme B. Its purification from
            granules and the characterization of substrate and inhibitor
            specificity
  JOURNAL   J Biol Chem 266 (1), 98-103 (1991)
   PUBMED   1985927
REFERENCE   7  (bases 1 to 891)
  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 891)
  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 891)
  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
REFERENCE   10 (bases 1 to 891)
  AUTHORS   Kopp,S.
  TITLE     Reproducibility of response to a questionnaire on symptoms of
            masticatory dysfunction
  JOURNAL   Community Dent Oral Epidemiol 4 (5), 205-209 (1976)
   PUBMED   1067155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY372494.1, BX283601.1 and
            CB528665.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_004131.5.
            
            Summary: This gene encodes a member of the granzyme subfamily of
            proteins, part of the peptidase S1 family of serine proteases. The
            encoded preproprotein is secreted by natural killer (NK) cells and
            cytotoxic T lymphocytes (CTLs) and proteolytically processed to
            generate the active protease, which induces target cell apoptosis.
            This protein also processes cytokines and degrades extracellular
            matrix proteins, and these roles are implicated in chronic
            inflammation and wound healing. Expression of this gene may be
            elevated in human patients with cardiac fibrosis. [provided by
            RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) 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 :: BM561748.1, J03189.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216341.9/ ENSP00000216341.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-193               AY372494.1         78-270
            194-269             BX283601.1         232-307
            270-874             AY372494.1         347-951
            875-891             CB528665.1         15-31               c
FEATURES             Location/Qualifiers
     source          1..891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..891
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /note="granzyme B"
                     /db_xref="GeneID:3002"
                     /db_xref="HGNC:HGNC:4709"
                     /db_xref="MIM:123910"
     exon            1..85
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..774
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /EC_number="3.4.21.79"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; fragmentin 2; cathepsin G-like 1; T-cell serine
                     protease 1-3E; cytotoxic serine protease B; human
                     lymphocyte protein; cytotoxic T-lymphocyte proteinase 2;
                     granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated
                     serine esterase 1)"
                     /codon_start=1
                     /product="granzyme B isoform 1 preproprotein"
                     /protein_id="NP_004122.2"
                     /db_xref="CCDS:CCDS9633.1"
                     /db_xref="GeneID:3002"
                     /db_xref="HGNC:HGNC:4709"
                     /db_xref="MIM:123910"
                     /translation="MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQK
                     SLKRCGGFLIRDDFVLTAAHCWGSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNP
                     KNFSNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTL
                     QEVKMTVQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVS
                     YGRNNGMPPRACTKVSSFVHWIKKTMKRY"
     exon            86..233
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /inference="alignment:Splign:2.1.0"
     exon            234..369
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /inference="alignment:Splign:2.1.0"
     exon            370..630
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /inference="alignment:Splign:2.1.0"
     exon            631..891
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      864..869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /note="hexamer: AATAAA"
     polyA_site      891
                     /gene="GZMB"
                     /gene_synonym="C11; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
                     CTSGL1; HLP; SECT"
                     /note="major polyA site"
ORIGIN      
        1 agctccaacc agggcagcct tcctgagaag atgcaaccaa tcctgcttct gctggccttc
       61 ctcctgctgc ccagggcaga tgcaggggag atcatcgggg gacatgaggc caagccccac
      121 tcccgcccct acatggctta tcttatgatc tgggatcaga agtctctgaa gaggtgcggt
      181 ggcttcctga tacgagacga cttcgtgctg acagctgctc actgttgggg aagctccata
      241 aatgtcacct tgggggccca caatatcaaa gaacaggagc cgacccagca gtttatccct
      301 gtgaaaagac ccatccccca tccagcctat aatcctaaga acttctccaa cgacatcatg
      361 ctactgcagc tggagagaaa ggccaagcgg accagagctg tgcagcccct caggctacct
      421 agcaacaagg cccaggtgaa gccagggcag acatgcagtg tggccggctg ggggcagacg
      481 gcccccctgg gaaaacactc acacacacta caagaggtga agatgacagt gcaggaagat
      541 cgaaagtgcg aatctgactt acgccattat tacgacagta ccattgagtt gtgcgtgggg
      601 gacccagaga ttaaaaagac ttcctttaag ggggactctg gaggccctct tgtgtgtaac
      661 aaggtggccc agggcattgt ctcctatgga cgaaacaatg gcatgcctcc acgagcctgc
      721 accaaagtct caagctttgt acactggata aagaaaacca tgaaacgcta ctaactacag
      781 gaagcaaact aagcccccgc tgtaatgaaa caccttctct ggagccaagt ccagatttac
      841 actgggagag gtgccagcaa ctgaataaat acctcttagc tgagtggaaa a
//
