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| Record Information |
| Record ID |
21 |
| Pubmed ID |
28451790 |
| SNP |
|
| Gene ID |
3458 |
| Protein ID |
P01579 |
| Vaccine Adverse Events |
usual type vulvar intraepithelial neoplasia |
| Vaccine |
HPV16 E7 DNA vaccine |
| Gene Name |
IFNG |
| Official Symbol |
interferon gamma [Homo sapiens (human)] |
| Aliases |
IFG, IFI, IMD69 |
| Other Designations |
interferon gamma; IFN-gamma; immune interferon |
| Chromosome |
12 |
| Location |
12q15 |
| Annotation |
Chromosome 12 NC_000012.12 (68154768..68159740, complement) |
| MIM |
147570 |
| DNA Sequence |
>NC_000012.12:68154768-68159740 Homo sapiens chromosome 12, GRCh38.p14 Primary Assembly
TAGTTGTGAACTTACACTTTATTCATATATATTAGATATTGATAATTTTAACAAATGAGTTACTTTCCAT
TTGGGTACAGTCACAGTTGTCAACAATATTTGGAAGCACCAGGCATGAAATCTCCTGAGATGCTATGTTT
TCATCAGGGTCACCTGACACATTCAAGTTCTGTCTGACATGCCATTAAAGCACTGGCTCAGATTGCAGGC
ATATTTTCAAACCGGCAGTAACTGGATAGTATCACTTCACTTATAAGTGTTCATTGTATCATCAAGTGAA
ATAAACACACAACCCATGGGATCTTGCTTAGGTTGGCTGCCTAGTTGGCCCCTGAGATAAAGCCTTGTAA
TCACATAGCCTTGCCTAATTAGTCAGAAAACAAAGGATTAAGTGAGACAGTCACAGGATATAGGAATTAT
AAATAATACATATATTAATAGATATTCATTTTCATTACACAAAAGTTGCTATTATAAATACTTATTTGAT
TGATGAGTCTAAAAATATATTCCCCATATAAATAATGTTAAATATTAATAAATAGATTTAGATTTAAAAT
TCAAATATTGCAGGCAGGACAACCATTACTGGGATGCTCTTCGACCTCGAAACAGCATCTGACTCCTTTT
TCGCTTCCCTGTTTTAGCTGCTGGCGACAGTTCAGCCATCACTTGGATGAGTTCATGTATTGCTTTGCGT
TGGACATTCAAGTCAGTTACCTATCGGGAAAGAAAAGAGCAAAATTAATTTCAGGCATATAAGCCATCAG
GATATTCTGCTAATGTCATGATGGTCAGTGAAAATAAAAGTATTCCTTTAAAAAATGGACCGTATTACCT
TAATATACAATATTTACTTCTTCAGCAGTTGAAGCTAAAAATTACAATTACATTTCTAGTTGTGCTATAA
TGTGGTGGAGTCCATCACATATCTTTAAATCTACTTCTATAGAATTCTTGAAATTATATAGTGAAAAGAC
TCCTGGTTGTGGAGTCAGCATAAAAAGGTGGGTTTGAATCTCATGCATGCAATAATTCTGACCTTGAGCC
AGCTACTTAACCTCTCTGAACTTCTATTTTCTCATCTAAAGGAGGATGAGACTGTTTCTATGACCTCTCT
ATCATCAATCTACCAATTATATCACTTTATACTTCAGTCTTTCCTGTATGCATCAAATGAGTAACTATAG
GTCAATGATTCTCACTGTTGTGCATAGCAGATTAATCCGGAAACCTGTCAAAGACCTCAGAGATCCAGGT
GCATGAAGTGGAAGGACTGTGCCCTGTGCATTCACTAAGCTCCCCAGGTGATTCTGACATCCACCTAAGT
TTGAGAACCACTGATCTAGGTTAGGTACCCTAGAAAACACCAAATCCAAAACGAGTGAAAACTGTAATTT
TTAATTTCTCCCAGATTAGGTCAGTCTCTCAATTTCCATAATAGATTTTAAAATAAACACCCCCAATCAT
ATTTATATATGGCTTACTGATATATAAAGTTTAAAATTAAGAATTGCAACAACTTTTCCAGTACCCTGCC
TTCTAGGCAAGCAAATTGAACTACTTGCATCTCCTCACTCTAACCAATAGGGCCATTTAGATGATGCTTC
ATAAAATGTGGACCATTTACCTTCCTCTTGGCTCTGCCATTACATTTTTTCTAATCTTGGGAACACTATG
GCTACTCACCACATTTCTGAGGATGGCTGGGGGATTACAGCTAAAGACTAATTGTCAAAGGGCATAACAT
GCATAAAATAGCTTAGCAACTGAGCCAAAGAGAATAATAATTAATAGAGCTCACTCAAGATTGCCCATCA
AGAAACAGGAGGTTTGTAGCTTCCAGAAGGAAGAAACCACAGATTTTTTTTCATTTTTTTAAGGCCCAGT
TCCTGCAGAGTAGAAAAAATTTTCGACAAGCTGTGTGTTTGCAAGTGACAGATTTTACTTTCCAATGTTC
AAATCATCACCAAGAAACTAAGAGACTTATCCAGGACTGAACAGTAAGCCAGGGGCACCACTGGATTAGA
AACAAGTGCTGAGTGTCTAGTTTATAACCAAAGGAGACCTGTTGCCATGTCTCTCCTTTCTGTTTCTGGG
GGCTTACATGAGAGGAGTGAGAGGCAGGCCCAGCAATAGTGAAAGCTGAGCACATATCCTAAGAACACAA
ATGCTAGCTTGAAGACCCTGGTCCCTCTCATTTGAGCCCATTTATATCAAAGTCAACCCCAAAGGAATCT
AGAGGCCTTTGTCTTCTAGAAAACATTTTGAAAAACATGATTTGTCTTTATGCCTCAACGTTATCTTTCT
GTTTATAGAAGCCATAACTTAAAGATACAAGTTCATGAGGTAAGACTTAGGAGTCTAAGGAGTTCTCCAG
CTGAGATATTCTGAAAGTTGATAGAGAGTTGATAGAACAATCTTTTCATAAGGTATAAATTCTATCTATT
TTTCCCTAAAAACAAACAAACAGCAACCATTCTTGCTTCTAATTGGGCAGTACAATCTGATAGGTTGGCT
AGAGACTTGCAGTGGGGTGTCCCTGGTACCTATTCAAAGACTGTAGCTTTCTTCTATCTCATTCTCATTT
TCTATTCTTTGCATTGTAGAGTTTTGGAGCAAAGAAGGTCATCAAACTTATACAGTGAGCCTAACAGTTT
CCTTTTAAGATGAGGAAACTGAGCCCCAGCCAGCCATGTGATTCATCACAGTTCCTTGGTGGCTGAGTTG
GGAGGAGAACACACATCTTCTCAGCTCCTCCCACTGCTCTTTCCATTAAGACAGACAGCCTCTCATTCAA
AGTAAGAGAATTTCCATCATATGAGCAAGGGACAATGAGAGAACTGCTTCTCAGTACTCCCCGCTTCTTC
CTCACCTACTTCCTCTTCACTGGATTTGTCAACTCACCTGTCTTTACGCAATAGTTACAATGCCAGCATT
TCTCTACATTACATACTTCAGCGATTCTCTTACTGGCTTTGCAAAGTCACCCAAACACGAATGGAAATAG
TAAGGTAGAGTTTCAGCCATGAGTTGAGTTCATAGCTTTAGCAACTGTTAAATAGCTAATGTCTACTTTC
TGGAGAATAAATGCTTTGCAAGACCCTCGGCAATGAAACCAAAGAAAGAATTTAAATAGCCTCACCGAAT
AATTAGTCAGCTTTTCGAAGTCATCTCGTTTCTTTTTGTTGCTATTGAAAAACTTGACATTCATGTCTTC
CTTGATGGTCTCCACACTCTTTTGGATGCTCTGGTCATCTTTAAAGTTTTTAAAAAGTTTGAAGTAAAAG
GAGACAATTTGGCTCTGCATTATTTTTCTGTCACTCTCCTTGGAAGGAAAGAGCACAAACAGAGGATGAT
GTGAATTTATCCATCAGAAAGCAAGCAACAGGAAAATTAGCCAAATGGGAATATTCAGCTTACCTCTTTC
CAATTCTTCAAAATGCCTAAGAAAAGAGTTCCATTATCCGCTACATCTGAATGACCTGCATTCTAAAAAA
AAAAAAAGAAAAAATTGGTTTACAATTAGCCCATAAATTGCCTTAAAAATATATTTCAAGTTTCATTGAA
CTCAGATGTGACAATATTCACTGATTTCCTTTTCAACTCTTCTGCTTAGTTCTAACAATAAGTATTCCCA
AAAGGCTTATGTGAGATATAGACAAAGACTATTATGTTCTTTTAGCTTTTTTATTTCCCAATATAACCAT
TAAATTGCAATGTCACAAATGAGCTCAACAAAGCTGATACTCCAAAGGTCCCAAAAACTATAGTAAGCTA
AAGAAAGTATTTTCAAGCTAGGCTAAAAAATACAAAAACAAAAAACAGCAAAGCCACCCCACTATAAAAT
ACTGCCCCCCAATGGTACAGGTTTCTATTACATCTACTGTGCCTTCCTGTAGGGTATTATTATACGAGCT
TTAAAAGATAGTTCCAAACATGTGCGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGATTTTGTGT
TGTAAGAATAAAATCAATTGTGAATGTCTGAATATTATTATGACAGCTATAATTATAACAGCTAAGTTTT
AAACAAATAATGAAATATTTAAAATGTAAAAACTTTTCATTAACCATCAATAAAATTTTAAAAGAAACTC
AAAAAATTCACTTAAAATTTTTAAACATTCCTTAGCCAGAATCATAATTCTTCCAAAATCCCAGTGAGCA
ACGAAGTTCCGGAATACTTCACAAGTAATATAGATAGAGAAGCAGAATGTTGAAATCACTTTTTGGAGAA
AATCACCTATCAGTTATTTTTTTAAGCCAAAGCTTTAAGGACCTTTTTGACTTTAATTTGTAAACATTTC
CTATTACCTTTTTAATGCTAATCTTGACCTTAGAGTCTGAGAAGTCAAAAACTAATAACCAATCATTTTT
TTCAATCTGCATACTCCTTGACTATCACAACTGAATGAGTTCCCACCACAAAATTATTAACATCATTATG
CTTCATACCCATATTATGCCCATCTTTTGGAAAATTCATAAATCCCTTTTAAGTCTCTATACAAACTGAG
CAGAAGGTTAAAACAATATCTAGATTATTTAGTCAAGGAACTCATCTAGTCAATAATTAACAAAATAACA
CCAAATCTCAAAATGACTGCCTACAAGAGATGACAGCCTATCAGAGATGCTACAGCAAGTCGATATTCAG
TCATTTTCAACCACAAACAAGTACTATTAAAAAGTCATACTTACAAAATATTTCTTAAGGTTTTCTGCTT
CTTTTACATATGGGTCCTGGCAGTAACAGCCAAGAGAACCCAAAACGATGCAGAGCTGAAAAGCCAAGAT
ATAACTTGTATATTTCATCGTTTCCGAGAGAATTAAGCCAAAGAAGTTGAAATCAGTAGTTCTTGTATCA
AGCTGATCAGGTCCAAAGGACTTAACTGATCTTTCTCTTCTAATAGCTGATCTTCAGATGATCAGAACAA
TGT
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| Protein Name |
IFNG_HUMAN |
| Length |
166 |
| Moltype |
AA |
| Topology |
linear |
| Division |
PRI |
| Update Date |
12-OCT-2022 |
| Create Date |
21-JUL-1986 |
| Definition |
RecName: Full=Interferon gamma; Short=IFN-gamma; AltName: Full=Immune interferon; Flags: Precursor |
| Primary Accession |
P01579 |
| Accession Version |
P01579.1 |
| Other SeqIDs |
sp|P01579.1|IFNG_HUMAN,gi|124479 |
| Organism |
Homo sapiens |
| Taxonomy |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo |
| Comment |
On or before Dec 15, 2009 this sequence version replaced gi:74740890, gi:69692.; [FUNCTION] Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:16914093, PubMed:8666937). Primarily signals through the JAK-STAT pathway after interaction with its receptor IFNGR1 to affect gene regulation (PubMed:8349687). Upon IFNG binding, IFNGR1 intracellular domain opens out to allow association of downstream signaling components JAK2, JAK1 and STAT1, leading to STAT1 activation, nuclear translocation and transcription of IFNG-regulated genes. Many of the induced genes are transcription factors such as IRF1 that are able to further drive regulation of a next wave of transcription (PubMed:16914093). Plays a role in class I antigen presentation pathway by inducing a replacement of catalytic proteasome subunits with immunoproteasome subunits (PubMed:8666937). In turn, increases the quantity, quality, and repertoire of peptides for class I MHC loading (PubMed:8163024). Increases the efficiency of peptide generation also by inducing the expression of activator PA28 that associates with the proteasome and alters its proteolytic cleavage preference (PubMed:11112687). Up-regulates as well MHC II complexes on the cell surface by promoting expression of several key molecules such as cathepsins B/CTSB, H/CTSH, and L/CTSL (PubMed:7729559). Participates in the regulation of hematopoietic stem cells during development and under homeostatic conditions by affecting their development, quiescence, and differentiation (By similarity). {ECO:0000250|UniProtKB:P01580, ECO:0000269|PubMed:11112687, ECO:0000269|PubMed:16914093, ECO:0000269|PubMed:7729559, ECO:0000269|PubMed:8163024, ECO:0000269|PubMed:8349687, ECO:0000269|PubMed:8666937}.; [SUBUNIT] Homodimer (PubMed:1902591). Interacts with IFNGR1 (via extracellular domain); this interaction promotes IFNGR1 dimerization (PubMed:8349687). {ECO:0000269|PubMed:1902591, ECO:0000269|PubMed:8349687}.; [INTERACTION] P01579; P15260: IFNGR1; NbExp=3; IntAct=EBI-1030767, EBI-1030755; P01579; Q66793: C4R; Xeno; NbExp=2; IntAct=EBI-1030767, EBI-15683787.; [SUBCELLULAR LOCATION] Secreted.; [TISSUE SPECIFICITY] Released primarily from activated T lymphocytes.; [INDUCTION] By cytokines, most notably interleukin IL-12, secreted by professional antigen-presenting cells such as monocytes/macrophages and dendritic cells. {ECO:0000269|PubMed:9643557}.; [PTM] Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161. {ECO:0000269|PubMed:3109913}.; [DISEASE] Aplastic anemia (AA) [MIM:609135]: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. {ECO:0000269|PubMed:15327519}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; [DISEASE] Immunodeficiency 69 (IMD69) [MIM:618963]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. {ECO:0000269|PubMed:32163377}. Note=The disease is caused by variants affecting the gene represented in this entry.; [PHARMACEUTICAL] Available under the name Actimmune (Genentech). Used for reducing the frequency and severity of serious infections associated with chronic granulomatous disease (CGD).; [SIMILARITY] Belongs to the type II (or gamma) interferon family. {ECO:0000305}.; [WEB RESOURCE] Name=Wikipedia; Note=Interferon gamma entry; URL='https://en.wikipedia.org/wiki/Interferon_gamma'.; [WEB RESOURCE] Name=SeattleSNPs; URL='http://pga.gs.washington.edu/data/ifng/'. |
| Source Db |
UniProtKB: locus IFNG_HUMAN, accession P01579;; class: standard.; extra accessions:B5BU88,Q53ZV4; created: Jul 21, 1986.; sequence updated: Apr 1, 1988.; annotation updated: Oct 12, 2022.; xrefs: X13274.1, CAA31639.1, J00219.1, AAB59534.1, X01992.1, CAA26022.1, V00543.1, CAA23804.1, AY255837.1, AAP20098.1, AF375790.2, AAK53058.1, AB451324.1, BAG70138.1, AB451453.1, BAG70267.1, CH471054.1, EAW97180.1, BC070256.1, AAH70256.1, IVHUG, NP_000610.2, 1EKU_A, 1EKU_B, 1FG9_A, 1FG9_B, 1FYH_A, 1FYH_D, 1HIG_A, 1HIG_B, 1HIG_C, 1HIG_D, 3BES_L, 6E3K_A, 6E3K_B, 6E3L_A, 6E3L_B; xrefs (non-sequence databases): CCDS:CCDS8980.1, PDBsum:1EKU, PDBsum:1FG9, PDBsum:1FYH, PDBsum:1HIG, PDBsum:3BES, PDBsum:6E3K, PDBsum:6E3L, AlphaFoldDB:P01579, SMR:P01579, BioGRID:109680, ComplexPortal:CPX-6024, DIP:DIP-483N, IntAct:P01579, STRING:9606.ENSP00000229135, BindingDB:P01579, ChEMBL:CHEMBL3286073, DrugBank:DB14724, DrugBank:DB05111, DrugBank:DB10770, DrugBank:DB10772, DrugBank:DB01296, DrugBank:DB01250, DrugBank:DB05110, DrugCentral:P01579, GlyConnect:287, GlyGen:P01579, iPTMnet:P01579, PhosphoSitePlus:P01579, BioMuta:IFNG, DMDM:124479, MassIVE:P01579, PaxDb:P01579, PeptideAtlas:P01579, PRIDE:P01579, ABCD:P01579, Antibodypedia:4154, DNASU:3458, Ensembl:ENST00000229135.4, Ensembl:ENSP00000229135.3, Ensembl:ENSG00000111537.5, GeneID:3458, KEGG:hsa:3458, MANE-Select:ENST00000229135.4, UCSC:uc001stw.2, CTD:3458, DisGeNET:3458, GeneCards:IFNG, HGNC:5438, HPA:ENSG00000111537, MalaCards:IFNG, MIM:147570, MIM:609135, MIM:618963, neXtProt:NX_P01579, OpenTargets:ENSG00000111537, Orphanet:88, Orphanet:805, PharmGKB:PA29674, VEuPathDB:HostDB:ENSG00000111537, eggNOG:ENOG502SBGW, GeneTree:ENSGT00390000007831, HOGENOM:CLU_135106_0_0_1, InParanoid:P01579, OMA:GGPIFTE, OrthoDB:1382686at2759, PhylomeDB:P01579, TreeFam:TF336308, PathwayCommons:P01579, Reactome:R-HSA-877300, Reactome:R-HSA-877312, Reactome:R-HSA-8877330, Reactome:R-HSA-8950505, SignaLink:P01579, SIGNOR:P01579, BioGRID-ORCS:3458, EvolutionaryTrace:P01579, GeneWiki:Interferon-gamma, GenomeRNAi:3458, Pharos:P01579, PRO:PR:P01579, Proteomes:UP000005640, RNAct:P01579, Bgee:ENSG00000111537, Genevisible:P01579, GO:0005576, GO:0005615, GO:0005125, GO:0005133, GO:0002250, GO:0006915, GO:0048143, GO:0007166, GO:0098586, GO:0051607, GO:0097191, GO:0006959, GO:0060333, GO:0002281, GO:0030225, GO:0001774, GO:1900222, GO:0045892, GO:0030857, GO:0010629, GO:0032700, GO:0048662, GO:1902948, GO:0000122, GO:0150076, GO:1902004, GO:0010508, GO:0060559, GO:0032834, GO:0008284, GO:1901857, GO:0032722, GO:1904798, GO:0001819, GO:0010634, GO:1903543, GO:0060550, GO:0060552, GO:0010628, GO:0045821, GO:0050729, GO:0032731, GO:0032735, GO:0032747, GO:0032755, GO:1904440, GO:0051712, GO:0051044, GO:0045348, GO:0050769, GO:1901216, GO:0045429, GO:0051770, GO:0051173, GO:1904783, GO:0045672, GO:0033141, GO:0050766, GO:0090312, GO:0042307, GO:1903078, GO:0001934, GO:0071902, GO:0031334, GO:2000273, GO:0034393, GO:2000309, GO:0032760, GO:0042531, GO:0060557, GO:0007259, GO:0050796, GO:0010835, GO:0009615, Gene3D:1.20.1250.10, InterPro:IPR009079, InterPro:IPR002069, PANTHER:PTHR11419, Pfam:PF00714, PIRSF:PIRSF001936, SUPFAM:SSF47266 |
| Sequence |
mkytsyilafqlcivlgslgcycqdpyvkeaenlkkyfnaghsdvadngtlflgilknwkeesdrkimqsqivsfyfklfknfkddqsiqksvetikedmnvkffnsnkkkrddfekltnysvtdlnvqrkaiheliqvmaelspaaktgkrkrsqmlfrgrrasq |
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