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FLASH GENE

Symbol

IFNGR1

contributors: mct - updated : 05-09-2017

HGNC name	interferon gamma receptor 1
HGNC id	5439

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IMD27A Immunodeficiency 27A
Location	6q23.3      Physical location : 137.518.620 - 137.540.567
Synonym symbol(s)	IFNGR, CD119, IMD27A, IMD27B, FLJ45734

DNA

TYPE	functioning gene
STRUCTURE	22.87 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	polymorphism in the promoter region of IFNGR1 (encoding interferon-gamma receptor 1) that has opposite functional effects in different cellular contexts

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D6S292 - D6S314 - D6S1009 - IFNGR1 - D6S1319 - D6S310 /D6S1587 - D6S1569 /D6S1699 - qter
Authors	Merlin (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000416 7 - 2138 NP_000407 - 489 - 2016 27356097

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive esophagus       highly   pharynx       highly Lymphoid/Immune spleen       moderately Nervous brain       moderately   nerve       highly Reproductive female system placenta     moderately Urinary bladder       highly Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a cytoplasmic domain
	two fibronectin type-III domains
	two Ig-like C2-type (immunoglobulin-like) domains
	a IFNGR1 270-LI-271 dileucine motif, previously thought to be involved in this receptor endocytosis, showed to be unnecessary for receptor endocytosis
	the YDKPH sequence near the C-terminus, required for IFNG-dependent cellular responses through STAT1 binding

mono polymer

monomer

HOMOLOGY

interspecies	homolog to rattus Ifngr (51.30 pc)
	homolog to murine Ifngr1 (53.55 pc)

Homologene

FAMILY

type II cytokine receptor family

CATEGORY

signaling cytokine , receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	secreted by natural killer (NK) and T lymphocytes

basic FUNCTION	ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor
	host IFNGR1 signaling controls the magnitude of CD8(+) T cell responses and subsequent memory differentiation under lymphopenic and nonlymphopenic conditions
	IFNGR1 signaling regulates autoimmune, but not the foreign antigen-driven, germinal centers and T helper cell (TFH cell) responses

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of transmembrane

INTERACTION

DNA

RNA

small molecule

protein

endogenous STAT1 and IFNGR1 in target cells are indispensable to sustain the activation of STAT1 signaling by extracellular vesicles (EVs)-associated IFNG/IFNGR1 complexes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD27A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     deletion/insertion polymorphism in Africans but not Europeans or Asians, and associated with resistance to severe malaria.

Susceptibility

to H. pylori infection schistosomal hepatic fibrosis to malaria to tuberculosis (TB) to mycobacterial disease

Variant & Polymorphism SNP , insertion/deletion , other	IFNGR1-56T and IFNGR1-470ins/del associated with susceptibility to malaria
	genetic polymorphisms in the promoter of IFNGR1 gene are associated with atopic cataracts
	certain genetic variants in IFNGR1 genes may be associated with TB development
	paternal uniparental isodisomy of chromosome 6 causing mycobacterial disease suceptibility with primary immunodeficiency

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS