IFNG
entrez
3458
canonical
uniprot
P01579
canonical
ensembl
ENSG00000111537
resolver
ensp
ENSP00000229135
resolver
enst
ENST00000229135
resolver
genesymbol
IFNG
resolver
hgnc
HGNC:5438
resolver
uniprot
B5BU88
resolver
uniprot
Q53ZV4
resolver
uniprot_entry
IFNG_HUMAN
resolver
uniprot_sec
B5BU88
resolver
uniprot_sec
Q53ZV4
resolver
amino_acid_sequence
MKYTSYILAFQLCIVLGSLGCYCQDPYVKEAENLKKYFNAGHSDVADNGTLFLGILKNWKEESDRKIMQSQIVSFYFKLFKNFKDDQSIQKSVETIKEDMNVKFFNSNKKKRDDFEKLTNYSVTDLNVQRKAIHELIQVMAELSPAAKTGKRKRSQMLFRGRRASQ
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
19348
uniprot
proteins
post_translational_modification
PTM: Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161. {ECO:0000269|PubMed:3109913}.
uniprot
proteins
protein_family
Type II (or gamma) interferon family
uniprot
proteins
pubmed
10860730
uniprot
proteins
pubmed
10986460
uniprot
proteins
pubmed
11112687
uniprot
proteins
pubmed
1525157
uniprot
proteins
pubmed
15327519
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16914093
uniprot
proteins
pubmed
1902591
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
2504704
uniprot
proteins
pubmed
2860101
uniprot
proteins
pubmed
3109913
uniprot
proteins
pubmed
32163377
uniprot
proteins
pubmed
6173769
uniprot
proteins
pubmed
6176945
uniprot
proteins
pubmed
6180322
uniprot
proteins
pubmed
6329718
uniprot
proteins
pubmed
6427223
uniprot
proteins
pubmed
7617032
uniprot
proteins
pubmed
7729559
uniprot
proteins
pubmed
8163024
uniprot
proteins
pubmed
8349687
uniprot
proteins
pubmed
8666937
uniprot
proteins
pubmed
9643557
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins