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FLASH GENE

Symbol

APOL1

contributors: mct - updated : 16-10-2018

HGNC name	apolipoprotein L, 1
HGNC id	618

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FSGS4 focal segmental glomerulosclerosis 4
Location	22q12.3      Physical location : 36.649.116 - 36.663.576
Synonym symbol(s)	APOL, RP1-68O2.2, APO-L, APOL-I

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	APOL1-APOL4 are clustered on human chromosome 22q13.1
STRUCTURE	14.46 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	spliced variant 39kDa, truncated

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145343 7 - 3039 NP_663318 45.9 414 - 2001 11374903 NM_001136541 5 - 2831 NP_001130013 - 380 - 2001 11374903 NM_003661 6 - 2885 NP_003652 - 398 - 2001 11374903 NM_001136540 6 - 2924 NP_001130012 - 398 - 2001 11374903 NM_001362927 5 - 2870 NP_001349856 - 380 - 2001 11374903

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 Endocrine pancreas         Reproductive female system placenta       Homo sapiens Urinary kidney nephron renal capsule glomerulus   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       skeleton synovium

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte Homo sapiens

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

high density lipoprotein

conjugated

LipoP

mono polymer

aggregate

HOMOLOGY

Homologene

FAMILY

APOL family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	may be participating in reverse cholesterol transport from peripheral cells to the liver
	having lipid binding activity that, when overproduced intracellularly, induces autophagic cell death
	BH3-only pro-death protein, which may play a role in cytokine-induced inflammatory response
	lipid-binding protein with high affinity for phosphatidic acid and cardiolipin and less affinity for various phosphoinositides
	serum factor that lyses trypanosomes
	APOL1 possesses both extra- and intra-cellular functions crucial in host defense and cellular homeostatic mechanisms
	role of APOL1 in renal cell carcinoma (RCC) and chronic kidney disease, highlighting the critical function of APOL1 in autophagy
	APOL1 gene product is toxic to kidney cells, and its G1 and G2 alleles are strongly associated with increased risk for kidney disease progression in African Americans
	potential pivotal role for mitochondrial dysfunction in APOL1-associated kidney disease
	APOL1 is an innate immune effector that protects human beings from infection by some trypanosomal parasites
	role for APOL1 in the development of preeclampsia
	have important functions in the kidney

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

lipoprotein particles containing AI, AII, AIV, CIII

INTERACTION

DNA

RNA

small molecule

protein	APOL1 stably associates with phospholipid vesicles, requiring low pH and the presence of negatively charged phospholipids for maximal binding
	UBD modifies APOL1-induced kidney disease risk

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FSGS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in papillary thyroid carcinoma compared to normal tissue

Susceptibility

to maternal preeclampsia to chronic kidney diseases (CKD) to sickle cell nephropathy (SCN) to systemic lupus erythematosus-associated collapsing glomerulopathy

Variant & Polymorphism other	APOL1 high-risk status of the fetus is a risk factor for maternal preeclampsia, likely by adversely affecting placental function
	APOL1 risk variants cause podocytes injury through enhancing endoplasmic reticulum stress, and chronic kidney diseases (CKD)
	homozygous or double-heterozygous APOL1 G1 and G2 genotypes were strongly associated with end stage renal disease in sickle cell nephropathy
	APOL1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS