GZMA (granzyme A) - Rat Genome Database

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Gene: GZMA (granzyme A) Homo sapiens
Analyze
Symbol: GZMA
Name: granzyme A
RGD ID: 1348122
HGNC Page HGNC:4708
Description: Enables protein homodimerization activity and serine-type endopeptidase activity. Involved in several processes, including cytotoxic T cell pyroptotic process; granzyme-mediated programmed cell death signaling pathway; and proteolysis involved in protein catabolic process. Is active in cytoplasm. Biomarker of chronic obstructive pulmonary disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CTL tryptase; CTLA3; cytotoxic T-lymphocyte proteinase 1; cytotoxic T-lymphocyte-associated serine esterase-3; fragmentin-1; granzyme 1; Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3, Hanukah factor serine protease); granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3); granzyme-1; h factor; hanukah factor serine protease; Hanukah factor serine protease); hanukkah factor; HF; HFSP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GZMAP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38555,102,646 - 55,110,252 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl555,102,646 - 55,110,252 (+)EnsemblGRCh38hg38GRCh38
GRCh37554,398,474 - 54,406,080 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,434,230 - 54,441,818 (+)NCBINCBI36Build 36hg18NCBI36
Build 34554,434,229 - 54,441,818NCBI
Celera551,351,660 - 51,358,967 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,372,038 - 51,379,264 (+)NCBIHuRef
CHM1_1554,401,713 - 54,409,574 (+)NCBICHM1_1
T2T-CHM13v2.0555,930,246 - 55,937,579 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
bromobenzene  (ISO)
cadmium sulfate  (ISO)
capsaicin  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
cholesterol  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
clofibrate  (ISO)
cyclophosphamide  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dichlorvos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folpet  (ISO)
genistein  (EXP)
gentamycin  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
L-ethionine  (ISO)
Lasiocarpine  (ISO)
lipopolysaccharide  (EXP,ISO)
methotrexate  (EXP)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodimethylamine  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (EXP)
pirinixic acid  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
senecionine  (ISO)
Senkirkine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
sodium dichromate  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
vinclozolin  (ISO)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cathelicidin LL-37, granzymes, TGF-beta1 and cytokines levels in induced sputum from farmers with and without COPD. Golec M, etal., Ann Agric Environ Med. 2009 Dec;16(2):289-97.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1860869   PMID:3047119   PMID:3237717   PMID:3257574   PMID:3262682   PMID:3263427   PMID:3533635   PMID:7751653   PMID:7912927   PMID:8288245   PMID:9256474   PMID:9531325  
PMID:11060286   PMID:11331782   PMID:11555662   PMID:11909973   PMID:12477932   PMID:12524539   PMID:12555094   PMID:12721789   PMID:12819769   PMID:12819770   PMID:15238416   PMID:15342556  
PMID:15489334   PMID:15911377   PMID:15998831   PMID:16440001   PMID:17008916   PMID:17116752   PMID:17138956   PMID:17180578   PMID:17308307   PMID:17703412   PMID:18317234   PMID:18485875  
PMID:18776661   PMID:18951048   PMID:19014932   PMID:19059912   PMID:19258923   PMID:19343046   PMID:19506301   PMID:19875524   PMID:20038786   PMID:20503287   PMID:20536382   PMID:21068403  
PMID:21349256   PMID:21709155   PMID:21873635   PMID:22476618   PMID:24505135   PMID:24673566   PMID:25383893   PMID:25437548   PMID:25745046   PMID:25921628   PMID:25928296   PMID:26025597  
PMID:26032366   PMID:26051682   PMID:26156785   PMID:26522261   PMID:26752517   PMID:27343190   PMID:28094457   PMID:29167233   PMID:31993061   PMID:32299851   PMID:32574709   PMID:32640217  
PMID:32830401   PMID:33397791   PMID:34022140   PMID:34413857   PMID:34634775   PMID:35256589   PMID:36899106   PMID:37671668  


Genomics

Comparative Map Data
GZMA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38555,102,646 - 55,110,252 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl555,102,646 - 55,110,252 (+)EnsemblGRCh38hg38GRCh38
GRCh37554,398,474 - 54,406,080 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,434,230 - 54,441,818 (+)NCBINCBI36Build 36hg18NCBI36
Build 34554,434,229 - 54,441,818NCBI
Celera551,351,660 - 51,358,967 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,372,038 - 51,379,264 (+)NCBIHuRef
CHM1_1554,401,713 - 54,409,574 (+)NCBICHM1_1
T2T-CHM13v2.0555,930,246 - 55,937,579 (+)NCBIT2T-CHM13v2.0
Gzma
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913113,230,358 - 113,237,515 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13113,230,359 - 113,237,515 (-)EnsemblGRCm39 Ensembl
GRCm3813113,093,824 - 113,100,981 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13113,093,825 - 113,100,981 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713113,884,035 - 113,891,189 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613114,214,703 - 114,221,857 (-)NCBIMGSCv36mm8
Celera13117,414,494 - 117,421,678 (-)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1363.93NCBI
Gzma
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8246,473,763 - 46,485,696 (-)NCBIGRCr8
mRatBN7.2244,740,569 - 44,752,502 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl244,740,569 - 44,752,493 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx251,849,991 - 51,861,867 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0249,908,348 - 49,920,224 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0244,783,785 - 44,795,643 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0244,968,846 - 44,981,436 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl244,968,765 - 44,981,458 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0264,004,695 - 64,017,285 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4244,488,295 - 44,500,128 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1244,416,527 - 44,428,361 (-)NCBI
Celera240,513,802 - 40,525,612 (-)NCBICelera
Cytogenetic Map2q14NCBI
Gzma
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544612,560,658 - 12,568,053 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544612,560,831 - 12,568,023 (-)NCBIChiLan1.0ChiLan1.0
GZMA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2458,830,039 - 58,837,338 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1556,983,664 - 56,990,990 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0558,919,129 - 58,926,620 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1560,540,988 - 60,548,274 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl560,540,988 - 60,548,506 (-)Ensemblpanpan1.1panPan2
GZMA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1242,490,712 - 42,498,655 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl242,490,069 - 42,498,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha239,536,721 - 39,544,284 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0242,950,252 - 42,957,426 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl242,949,874 - 42,957,230 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1240,020,302 - 40,027,904 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0240,830,532 - 40,838,091 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0241,653,466 - 41,660,635 (+)NCBIUU_Cfam_GSD_1.0
Gzma
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213203,705,039 - 203,712,759 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648012,641,433 - 12,649,324 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648012,641,587 - 12,649,243 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GZMA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1634,282,120 - 34,290,477 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11634,282,160 - 34,290,422 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21636,385,694 - 36,393,956 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GZMA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1451,340,329 - 51,347,569 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl451,340,356 - 51,348,249 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666049209,615 - 216,838 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gzma
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247594,177,857 - 4,185,324 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247594,177,857 - 4,185,325 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GZMA
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] Chr5:53332485..57152396 [GRCh38]
Chr5:52628315..56448223 [GRCh37]
Chr5:52664072..56483980 [NCBI36]
Chr5:5q11.2		 uncertain significance
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
NM_006144.3(GZMA):c.262G>A (p.Glu88Lys) single nucleotide variant Malignant melanoma [RCV000066955] Chr5:55107840 [GRCh38]
Chr5:54403668 [GRCh37]
Chr5:54439425 [NCBI36]
Chr5:5q11.2		 not provided
NM_006144.3(GZMA):c.680C>T (p.Ser227Phe) single nucleotide variant Malignant melanoma [RCV000066956] Chr5:55110073 [GRCh38]
Chr5:54405901 [GRCh37]
Chr5:54441658 [NCBI36]
Chr5:5q11.2		 not provided
NM_006144.3(GZMA):c.655G>A (p.Glu219Lys) single nucleotide variant Malignant melanoma [RCV000061257] Chr5:55110048 [GRCh38]
Chr5:54405876 [GRCh37]
Chr5:54441633 [NCBI36]
Chr5:5q11.2		 not provided
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2		 uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3 copy number gain See cases [RCV000139251] Chr5:55028257..55939697 [GRCh38]
Chr5:54324085..55235525 [GRCh37]
Chr5:54359842..55271282 [NCBI36]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q11.2(chr5:53784524-54985838) copy number loss Abnormal esophagus morphology [RCV000416715] Chr5:53784524..54985838 [GRCh37]
Chr5:5q11.2		 likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_006144.4(GZMA):c.583A>G (p.Met195Val) single nucleotide variant not provided [RCV000968054] Chr5:55108350 [GRCh38]
Chr5:54404178 [GRCh37]
Chr5:5q11.2		 benign
NC_000005.9:g.53180658_54552379dup duplication Neurodevelopmental disorder [RCV000787438] Chr5:53180658..54552379 [GRCh37]
Chr5:5q11.2		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NC_000005.9:g.(?_52285299)_(56189507_?)del deletion not provided [RCV003107599] Chr5:52285299..56189507 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_006144.4(GZMA):c.578T>C (p.Met193Thr) single nucleotide variant Inborn genetic diseases [RCV003288378] Chr5:55108345 [GRCh38]
Chr5:54404173 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.545G>A (p.Arg182Gln) single nucleotide variant Inborn genetic diseases [RCV002689011] Chr5:55108312 [GRCh38]
Chr5:54404140 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.518T>C (p.Ile173Thr) single nucleotide variant Inborn genetic diseases [RCV002883465] Chr5:55108285 [GRCh38]
Chr5:54404113 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.533T>C (p.Val178Ala) single nucleotide variant Inborn genetic diseases [RCV002686534] Chr5:55108300 [GRCh38]
Chr5:54404128 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.641G>A (p.Ser214Asn) single nucleotide variant Inborn genetic diseases [RCV002854407] Chr5:55110034 [GRCh38]
Chr5:54405862 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.779G>T (p.Gly260Val) single nucleotide variant Inborn genetic diseases [RCV002765314] Chr5:55110172 [GRCh38]
Chr5:54406000 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.71A>T (p.Asp24Val) single nucleotide variant Inborn genetic diseases [RCV002699575] Chr5:55105474 [GRCh38]
Chr5:54401302 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.190G>A (p.Val64Met) single nucleotide variant Inborn genetic diseases [RCV002941750] Chr5:55105593 [GRCh38]
Chr5:54401421 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_006144.4(GZMA):c.46G>T (p.Val16Phe) single nucleotide variant Inborn genetic diseases [RCV003361923] Chr5:55102728 [GRCh38]
Chr5:54398556 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:60
Count of miRNA genes:59
Interacting mature miRNAs:60
Transcripts:ENST00000274306
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-81572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37554,397,944 - 54,398,253UniSTSGRCh37
Build 36554,433,701 - 54,434,010RGDNCBI36
Celera551,351,130 - 51,351,439RGD
Cytogenetic Map5q11-q12UniSTS
HuRef551,371,508 - 51,371,817UniSTS
TNG Radiation Hybrid Map524647.0UniSTS
RH119852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37554,403,565 - 54,403,863UniSTSGRCh37
Build 36554,439,322 - 54,439,620RGDNCBI36
Celera551,356,452 - 51,356,750RGD
Cytogenetic Map5q11-q12UniSTS
HuRef551,376,749 - 51,377,047UniSTS
TNG Radiation Hybrid Map524644.0UniSTS
REN107686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37790,176,370 - 90,176,600UniSTSGRCh37
GRCh37554,396,618 - 54,396,848UniSTSGRCh37
Build 36554,432,375 - 54,432,605RGDNCBI36
Celera784,880,439 - 84,880,669UniSTS
Celera551,349,809 - 51,350,035RGD
HuRef551,370,187 - 51,370,413UniSTS
HuRef784,785,803 - 84,786,033UniSTS
CRA_TCAGchr7v2789,507,167 - 89,507,397UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 269 755 188 94 1148 94 135 6 31 123 158 568 1 186 46
Low 1785 1675 1402 496 277 338 2754 1162 1714 217 1111 809 159 1 1007 1769 2 2
Below cutoff 274 510 106 17 64 13 1159 911 1717 34 99 41 5 10 874 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000274306   ⟹   ENSP00000274306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl555,102,646 - 55,110,252 (+)Ensembl
RefSeq Acc Id: NM_006144   ⟹   NP_006135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38555,102,646 - 55,110,252 (+)NCBI
GRCh37554,398,474 - 54,406,080 (+)ENTREZGENE
Build 36554,434,230 - 54,441,818 (+)NCBI Archive
HuRef551,372,038 - 51,379,264 (+)ENTREZGENE
CHM1_1554,401,713 - 54,409,574 (+)NCBI
T2T-CHM13v2.0555,930,246 - 55,937,579 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_006135   ⟸   NM_006144
- Peptide Label: precursor
- UniProtKB: P12544 (UniProtKB/Swiss-Prot),   A4PHN1 (UniProtKB/Swiss-Prot),   Q6IB36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000274306   ⟸   ENST00000274306
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12544-F1-model_v2 AlphaFold P12544 1-262 view protein structure

Promoters
RGD ID:6869604
Promoter ID:EPDNEW_H7967
Type:multiple initiation site
Name:GZMA_1
Description:granzyme A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38555,102,646 - 55,102,706EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4708 AgrOrtholog
COSMIC GZMA COSMIC
Ensembl Genes ENSG00000145649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274306 ENTREZGENE
  ENST00000274306.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000145649 GTEx
HGNC ID HGNC:4708 ENTREZGENE
Human Proteome Map GZMA Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:3001 UniProtKB/Swiss-Prot
NCBI Gene 3001 ENTREZGENE
OMIM 140050 OMIM
PANTHER GRANZYME A UniProtKB/Swiss-Prot
  KALLIKREIN-RELATED UniProtKB/Swiss-Prot
Pfam Trypsin UniProtKB/Swiss-Prot
PharmGKB PA29086 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt A4PHN1 ENTREZGENE
  GRAA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IB36 ENTREZGENE
UniProt Secondary A4PHN1 UniProtKB/Swiss-Prot
  Q6IB36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GZMA  granzyme A  GZMA  granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)  Symbol and/or name change 5135510 APPROVED