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FLASH GENE

Symbol

HLA-F

contributors: mct - updated : 25-10-2018

HGNC name	major histocompatibility complex, class I, F
HGNC id	4963

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.96 kb     7 Exon(s)

regulatory sequence	Promoter
	Binding site   enhancer   hormone
text structure	5.4kb HindIII fragment
	rs2523393 G/A Polymorphism is located in a distal enhancer of HLA-F, and rs2523393 G/A alters the function of a progesterone response enhancer

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - HFE HFE - TRNAV2 - D6S1260 /ZNF184 - HNRPH1 - EHMT2 - H@6 - D6S105 - D6S306 - ZNF165 - HLA-F - cen
Authors	Goldwurm (98), Banyer (98)
Text	probes from a 5q13.1 fragment duplicated on 6p21.3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1591 48.2 442 - - variant 3 - - 1025 26.4 254 - - variant 2 - - 1301 37 346 - -

EXPRESSION

Type

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 Reproductive female system placenta     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell

cell lineage
cell lines	B cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three globular extracellular domains, alpha 1 and alpha 2 forming the peptide binding groove
	a I, C-like alpha 3 domain
	a single transmembrane domain
	a cytoplasmic tail

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

HLA, class I family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	highly expressed, for example, in placental villi, on the surface of invasive and migratory extra-villus trophoblasts (EVTs) and decidual stromal cells (DSCs)

basic FUNCTION	likely to only bind to a restricted set of proteins
	is thought to regulate immune responses and could play an important role in regulating maternal-fetal immunotolerance during pregnancy
	HLA-F expression increases during the menstrual cycle and is upregulated by progesterone during the differentiation of endometrial stromal fibroblasts (ESFs) into DSCs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

forming an heterodimer with beta 2 microglobular (B2M)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

TAP and tapasin dependent

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   as the menstrual cycle progresses and is upregulated by progesterone, PGR, and GATA2 during the differentiation of ESFs into DSCs and dysregulation is associated with implantation failure and recurrent spontaneous abortion

Susceptibility

to variation of fecundability

Variant & Polymorphism SNP	SNP rs2523393, which is an eQTL for HLA-F, is significantly associated with fecundability

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS