APOL5

Summary

APOL5 (apolipoprotein L5, HGNC:14869) is a protein-coding gene on chromosome 22q12.3, encoding Apolipoprotein L5 (Q9BWW9). May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.

This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles.

Source: NCBI Gene 80831 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_030642

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14869
Approved symbol	APOL5
Name	apolipoprotein L5
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	APOLV
Ensembl gene	ENSG00000128313
Ensembl biotype	protein_coding
OMIM	607255
Entrez	80831

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000249044

RefSeq mRNA: 1 — MANE Select: NM_030642 NM_030642

CCDS: CCDS13920

Canonical transcript exons

ENST00000249044 — 5 exons

Exon	Start	End
ENSE00000880021	35726211	35727194
ENSE00000880022	35728723	35728904
ENSE00000911244	35717872	35717926
ENSE00000936034	35729354	35729483
ENSE00001275737	35720568	35720654

Expression profiles

Bgee: expression breadth broad, 36 present calls, max score 84.33.

Top tissues by expression

99 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.33	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.37	silver quality
hindlimb stylopod muscle	UBERON:0004252	59.00	gold quality
skeletal muscle tissue	UBERON:0001134	57.41	gold quality
muscle of leg	UBERON:0001383	53.23	gold quality
gastrocnemius	UBERON:0001388	50.61	gold quality
muscle tissue	UBERON:0002385	50.05	gold quality
right lobe of liver	UBERON:0001114	47.75	gold quality
lower esophagus mucosa	UBERON:0035834	46.69	silver quality
liver	UBERON:0002107	46.66	gold quality
gall bladder	UBERON:0002110	44.48	gold quality
apex of heart	UBERON:0002098	42.11	silver quality
prefrontal cortex	UBERON:0000451	40.60	gold quality
heart left ventricle	UBERON:0002084	39.53	gold quality
left testis	UBERON:0004533	39.30	gold quality
testis	UBERON:0000473	38.78	gold quality
subcutaneous adipose tissue	UBERON:0002190	38.61	silver quality
primary visual cortex	UBERON:0002436	38.45	silver quality
anterior cingulate cortex	UBERON:0009835	37.98	silver quality
thoracic mammary gland	UBERON:0005200	37.75	gold quality
frontal cortex	UBERON:0001870	37.67	gold quality
ganglionic eminence	UBERON:0004023	37.36	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right testis	UBERON:0004534	37.14	gold quality
heart	UBERON:0000948	37.01	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	36.24	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
mucosa of stomach	UBERON:0001199	36.03	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting APOL5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4317	98.49	67.09	987
HSA-MIR-1912-5P	97.94	67.98	832
HSA-MIR-3152-5P	96.98	66.88	819
HSA-MIR-12128	96.67	66.98	1471

Literature-anchored findings (GeneRIF, showing 1)

• APOL5 has been found only in humans (PMID:11374903)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	apol	ENSDARG00000073718
caenorhabditis_elegans		WBGENE00017219
caenorhabditis_elegans		WBGENE00017220

Paralogs (6): APOL4 (ENSG00000100336), APOL1 (ENSG00000100342), APOL3 (ENSG00000128284), APOL2 (ENSG00000128335), APOLD1 (ENSG00000178878), APOL6 (ENSG00000221963)

Protein

Protein identifiers

Apolipoprotein L5 — Q9BWW9 (reviewed: Q9BWW9)

Alternative names: Apolipoprotein L-V

All UniProt accessions (1): Q9BWW9

UniProt curated annotations — full annotation on UniProt →

Function. May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.

Subcellular location. Cytoplasm.

Tissue specificity. Low level of expression; detected in uterus, testis, skeletal muscle and stomach.

Similarity. Belongs to the apolipoprotein L family.

RefSeq proteins (1): NP_085145* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008405	ApoL	Family

Pfam: PF05461

UniProt features (8 total): sequence variant 4, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BWW9-F1	41.66	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_LOCALIZATION, GOMF_PROTEIN_LIPID_COMPLEX_BINDING, GOMF_LIPID_BINDING, GOMF_HIGH_DENSITY_LIPOPROTEIN_PARTICLE_BINDING, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING, ZNF22_TARGET_GENES, MIR4317, chr22q12, DESCARTES_MAIN_FETAL_SMOOTH_MUSCLE_CELLS, DESCARTES_FETAL_HEART_SMOOTH_MUSCLE_CELLS, NAKAYA_B_CELL_FLUARIX_FLUVIRIN_AGE_18_50YO_7DY_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_0.5H_ACT_CD4_TCELL_UP, GSE22886_CD8_TCELL_VS_BCELL_NAIVE_DN

GO Biological Process (3): lipid metabolic process (GO:0006629), lipid transport (GO:0006869), lipoprotein metabolic process (GO:0042157)

GO Molecular Function (2): high-density lipoprotein particle binding (GO:0008035), lipid binding (GO:0008289)

GO Cellular Component (2): extracellular region (GO:0005576), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
primary metabolic process	1
transport	1
lipid localization	1
protein metabolic process	1
lipoprotein particle binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOL5	COMT	P21964	649
APOL5	HPR	P00739	478
APOL5	CIMIP2C	A6NJV1	447
APOL5	APOC4	P55056	419
APOL5	PI4KB	P78405	415
APOL5	APOO	Q9BUR5	399
APOL5	NT5DC4	Q86YG4	393
APOL5	APOF	Q13790	377
APOL5	NAPRT	Q6XQN6	372
APOL5	ZNF441	Q8N8Z8	371
APOL5	APOL1	O14791	363
APOL5	YKT6	O15498	362
APOL5	APOL4	Q9BPW4	352
APOL5	APOLD1	Q96LR9	351
APOL5	APOM	O95445	336

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ABL1	APOL5	psi-mi:“MI:0915”(physical association)	0.400
APOL5	CRK	psi-mi:“MI:0915”(physical association)	0.400
SRC	APOL5	psi-mi:“MI:0915”(physical association)	0.400
FYN	APOL5	psi-mi:“MI:0915”(physical association)	0.400
GRB2	APOL5	psi-mi:“MI:0915”(physical association)	0.400
APOL5	NCK1	psi-mi:“MI:0915”(physical association)	0.400
APOL5	PIK3R1	psi-mi:“MI:0915”(physical association)	0.400
APOL5	CLTCL1	psi-mi:“MI:0915”(physical association)	0.400
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): CLTCL1 (Affinity Capture-MS), APOL5 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIF8, A0JN92, A7UHZ5, O08602, O08603, O08604, O14791, O15482, O77812, O95236, P01574, P01575, P01576, P01577, P01578, P05012, P59045, P70499, Q2KHK6, Q3B7D9, Q3TR54, Q3UQS2, Q56XQ0, Q5NCI0, Q5PPP4, Q5RFJ8, Q60766, Q6AYC2, Q6XZW6, Q6ZSC3, Q7TPX8, Q80ZF2, Q810Y8, Q86WN2, Q8BVM9, Q8CB12, Q8CCN1, Q8TCY9, Q99388, Q99J64

Diamond homologs: O14791, O95236, Q9BPW4, Q9BQE5, Q9BWW8, Q9BWW9, Q96LR9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

81 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

685 predictions. Top by Δscore:

Variant	Effect	Δscore
22:35720460:A:AG	acceptor_gain	0.9900
22:35717924:CTGG:C	donor_loss	0.9800
22:35717927:G:GG	donor_gain	0.9800
22:35726270:A:AG	acceptor_gain	0.9800
22:35726271:G:GG	acceptor_gain	0.9800
22:35720461:A:G	acceptor_gain	0.9700
22:35726271:GTGAT:G	acceptor_gain	0.9700
22:35717923:CCTG:C	donor_gain	0.9500
22:35717925:TG:T	donor_gain	0.9500
22:35717926:GG:G	donor_gain	0.9500
22:35720581:TTGTA:T	donor_gain	0.9500
22:35726397:A:G	acceptor_gain	0.9500
22:35728753:T:TA	acceptor_gain	0.9500
22:35717924:CTG:C	donor_gain	0.9400
22:35726394:A:AG	acceptor_gain	0.9400
22:35720468:A:AG	acceptor_gain	0.9300
22:35726271:GT:G	acceptor_gain	0.9300
22:35729352:A:AG	acceptor_gain	0.9300
22:35729353:G:GG	acceptor_gain	0.9300
22:35726395:C:G	acceptor_gain	0.9100
22:35729352:AGTT:A	acceptor_gain	0.9100
22:35729353:GTTG:G	acceptor_gain	0.9100
22:35726393:CACA:C	acceptor_gain	0.8800
22:35726394:ACAA:A	acceptor_gain	0.8800
22:35726270:AGT:A	acceptor_gain	0.8700
22:35726271:GTG:G	acceptor_gain	0.8700
22:35726307:A:C	acceptor_gain	0.8700
22:35727191:GAAG:G	donor_gain	0.8500
22:35720582:T:TA	donor_gain	0.8200
22:35728721:AG:A	acceptor_gain	0.8200

AlphaMissense

2813 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:35726384:T:C	F106L	0.877
22:35726386:T:A	F106L	0.877
22:35726386:T:G	F106L	0.877
22:35726831:T:C	F255L	0.869
22:35726833:C:A	F255L	0.869
22:35726833:C:G	F255L	0.869
22:35726564:A:C	S166R	0.846
22:35726566:T:A	S166R	0.846
22:35726566:T:G	S166R	0.846
22:35726372:T:C	F102L	0.824
22:35726374:T:A	F102L	0.824
22:35726374:T:G	F102L	0.824
22:35726906:T:C	F280L	0.815
22:35726908:T:A	F280L	0.815
22:35726908:T:G	F280L	0.815
22:35726876:T:C	F270L	0.802
22:35726878:C:A	F270L	0.802
22:35726878:C:G	F270L	0.802
22:35726852:T:C	F262L	0.796
22:35726854:T:A	F262L	0.796
22:35726854:T:G	F262L	0.796
22:35726427:T:C	L120P	0.777
22:35726438:G:C	A124P	0.769
22:35726538:C:A	A157D	0.759
22:35726508:T:A	V147D	0.750
22:35726606:G:C	A180P	0.748
22:35726469:T:C	L134P	0.736
22:35727058:A:C	R330S	0.733
22:35727058:A:T	R330S	0.733
22:35726399:T:C	F111L	0.730

dbSNP variants (sampled 300 via entrez): RS1000023230 (22:35727774 A>G), RS1000085795 (22:35721453 G>C), RS1000138979 (22:35707758 A>G), RS1000235641 (22:35712065 G>T), RS1000301863 (22:35716966 A>G), RS1000319154 (22:35722957 T>C), RS1000387332 (22:35715593 G>A), RS1000435312 (22:35722670 G>C), RS1000459653 (22:35727352 G>C), RS1000652555 (22:35716733 A>C,T), RS1000731148 (22:35706620 C>T), RS1000790405 (22:35712300 C>T), RS1001016959 (22:35706761 G>A), RS1001260856 (22:35711169 C>T), RS1001281295 (22:35727393 A>C)

Disease associations

OMIM: gene MIM:607255 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002301_5	Body mass index	3.000000e-06
GCST005958_13	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-06
GCST005962_33	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.