2024-04-26 02:45:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270781 729 bp mRNA linear PRI 14-MAY-2013 DEFINITION Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), transcript variant 3, mRNA. ACCESSION NM_001270781 VERSION NM_001270781.1 GI:399124766 KEYWORDS RefSeq. 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 729) AUTHORS Wang,L., Li,Q., Wu,L., Liu,S., Zhang,Y., Yang,X., Zhu,P., Zhang,H., Zhang,K., Lou,J., Liu,P., Tong,L., Sun,F. and Fan,Z. TITLE Identification of SERPINB1 as a physiological inhibitor of human granzyme H JOURNAL J. Immunol. 190 (3), 1319-1330 (2013) PUBMED 23269243 REMARK GeneRIF: Upon reactive center loop cleavage at Phe-343,SERPINB1 covalently complexes with GzmH. SERPINB1 overexpression suppresses GzmH- or LAK cell-mediated cytotoxicity. Crystal structures show possible conformational changes in GzmH for the suicide inhibition. REFERENCE 2 (bases 1 to 729) 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 3 (bases 1 to 729) AUTHORS Tang,H., Li,C., Wang,L., Zhang,H. and Fan,Z. TITLE Granzyme H of cytotoxic lymphocytes is required for clearance of the hepatitis B virus through cleavage of the hepatitis B virus X protein JOURNAL J. Immunol. 188 (2), 824-831 (2012) PUBMED 22156339 REMARK GeneRIF: GzmH suppresses viral replication through association with the hepatitis B virus x protein. REFERENCE 4 (bases 1 to 729) 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 5 (bases 1 to 729) AUTHORS Razvi,N.Z., Khurshid,R. and Nagra,S.A. TITLE To study the significance of apoptotic enzyme granzyme H in breast cancer patients JOURNAL J Ayub Med Coll Abbottabad 20 (1), 84-86 (2008) PUBMED 19024195 REFERENCE 6 (bases 1 to 729) 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 729) 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 729) 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 729) 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 729) 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, AL136018.4, AY232657.1 and AW204493.1. Summary: The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells 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. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 3 which is shorter than 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 :: AY232657.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025089 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-12 BQ054303.1 1-12 13-13 AL136018.4 53062-53062 c 14-21 BQ054303.1 14-21 22-705 AY232657.1 12-695 706-729 AW204493.1 1-24 c FEATURES Location/Qualifiers source 1..729 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" gene 1..729 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="granzyme H (cathepsin G-like 2, protein h-CCPX)" /db_xref="GeneID:2999" /db_xref="HGNC:4710" /db_xref="MIM:116831" exon 1..162 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /inference="alignment:Splign:1.39.8" misc_feature 9..11 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="upstream in-frame stop codon" CDS 108..590 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="isoform 3 precursor is encoded by transcript variant 3; cytotoxic T-lymphocyte-associated serine esterase 1; cytotoxin serine protease-C; cytotoxic T-lymphocyte proteinase" /codon_start=1 /product="granzyme H isoform 3 precursor" /protein_id="NP_001257710.1" /db_xref="GI:399124767" /db_xref="CCDS:CCDS59243.1" /db_xref="GeneID:2999" /db_xref="HGNC:4710" /db_xref="MIM:116831" /translation="
MQPFLLLLAFLLTPGAGTEEIIGGHEAKPHSRPYMAFVQFLQEKSRKRCGGILVRKDFVLTAAHCQGSSINVTLGAHNIKEQERTQQFIPVKRPIPHPAYNPKNFSNDIMLLQGDSGGPLVCKDVAQGILSYGNKKGTPPGVYIKVSHFLPWIKRTMKRL
" sig_peptide 108..161 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 168..>446 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad...; Region: Tryp_SPc; cd00190" /db_xref="CDD:29152" misc_feature 168..170 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="cleavage site" /db_xref="CDD:29152" misc_feature 243..251 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P20718.1); Region: Mediates the preference for acidic residues at the P3' and P4' sites" misc_feature order(297..299,429..431) /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="active site" /db_xref="CDD:29152" misc_feature <444..566 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad...; Region: Tryp_SPc; cl00149" /db_xref="CDD:206862" misc_feature order(498..500,504..506) /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /note="substrate binding sites [chemical binding]; other site" /db_xref="CDD:29152" exon 163..310 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /inference="alignment:Splign:1.39.8" exon 311..446 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /inference="alignment:Splign:1.39.8" variation 358 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:20545" exon 447..713 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" /inference="alignment:Splign:1.39.8" polyA_signal 686..691 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" polyA_site 713 /gene="GZMH" /gene_synonym="CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2" ORIGIN
gaggtctctgagtttactgtacccatccctccttcatctccctccagcatttgtttctggaaggagtcaacaccaacagctctgacctgggcagccttcctgagaaaatgcagccattcctcctcctgttggcctttcttctgacccctggggctgggacagaggagatcatcgggggccatgaggccaagccccactcccgcccctacatggcctttgttcagtttctgcaagagaagagtcggaagaggtgtggcggcatcctagtgagaaaggactttgtgctgacagctgctcactgccagggaagctccataaatgtcaccttgggggcccacaatatcaaggaacaggagcggacccagcagtttatccctgtgaaaagacccatcccccatccagcctataatcctaagaacttctccaacgacatcatgctactgcagggggactccggggggcccctcgtgtgtaaggacgtagcccaaggtattctctcctatggaaacaaaaaagggacacctccaggagtctacatcaaggtctcacacttcctgccctggataaagagaacaatgaagcgcctctaacagcaggcatgagactaaccttcctctgggcctgaccatctctgggacagaggcaagaatccccaaggggtgggcagtcggggttgcaggactgtaataaatggatctctggtgtaaatatgaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2999 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: NAS GeneID:2999 -> Biological process: GO:0006508 [proteolysis] evidence: NAS GeneID:2999 -> Biological process: GO:0006915 [apoptotic process] evidence: NAS GeneID:2999 -> Biological process: GO:0019835 [cytolysis] evidence: IEA GeneID:2999 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
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