APOLTP

Summary

APOLTP (apolipoprotein lipid transfer particle homolog, HGNC:53879) is a protein-coding gene on chromosome 16p13.13.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001370704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53879
Approved symbol	APOLTP
Name	apolipoprotein lipid transfer particle homolog
Location	16p13.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000188897
Ensembl biotype	protein_coding
Entrez	400499

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000595168, ENST00000595170, ENST00000596416, ENST00000598234, ENST00000599216, ENST00000600548, ENST00000600877, ENST00000612858, ENST00000696174

RefSeq mRNA: 2 — MANE Select: NM_001370704 NM_001370704, NM_001395505

CCDS: CCDS92107, CCDS92108

Canonical transcript exons

ENST00000696174 — 67 exons

Exon	Start	End
ENSE00002975720	11518900	11518970
ENSE00002984000	11425125	11425433
ENSE00003002119	11439489	11439581
ENSE00003005356	11383642	11383783
ENSE00003010379	11516142	11516307
ENSE00003014577	11523420	11523473
ENSE00003017568	11494575	11494760
ENSE00003017619	11384216	11384325
ENSE00003024151	11500804	11500969
ENSE00003030190	11396511	11396675
ENSE00003032672	11402037	11402158
ENSE00003047202	11393391	11393559
ENSE00003047471	11493644	11493796
ENSE00003048177	11440724	11440843
ENSE00003066781	11502077	11502180
ENSE00003073935	11411246	11411327
ENSE00003074010	11487262	11487386
ENSE00003092957	11440939	11441076
ENSE00003101144	11390279	11390463
ENSE00003108411	11383886	11384008
ENSE00003109041	11387111	11387295
ENSE00003109102	11372015	11372738
ENSE00003109264	11514359	11514539
ENSE00003110723	11515929	11516063
ENSE00003112935	11385211	11385416
ENSE00003115743	11392010	11392102
ENSE00003117386	11423179	11423256
ENSE00003123739	11407200	11407337
ENSE00003138122	11392317	11392501
ENSE00003146197	11491701	11491845
ENSE00003153306	11435662	11435879
ENSE00003153979	11417632	11417839
ENSE00003154015	11399472	11399600
ENSE00003180872	11390105	11390202
ENSE00003186235	11521952	11522112
ENSE00003189996	11508716	11508855
ENSE00003206319	11414342	11414508
ENSE00003206998	11424109	11424344
ENSE00003207734	11384888	11385065
ENSE00003208082	11391666	11391861
ENSE00003209345	11431036	11431229
ENSE00003464084	11478530	11478685
ENSE00003466458	11399702	11399815
ENSE00003470138	11459896	11460054
ENSE00003477111	11448919	11449107
ENSE00003478114	11401266	11401406
ENSE00003479141	11475624	11475715
ENSE00003481947	11476764	11476946
ENSE00003486476	11488709	11488867
ENSE00003494323	11477821	11478005
ENSE00003514146	11447934	11448073
ENSE00003520271	11456859	11457039
ENSE00003521984	11471654	11471817
ENSE00003539136	11469175	11469254
ENSE00003544395	11460477	11460610
ENSE00003558511	11484879	11485073
ENSE00003611313	11412841	11412953
ENSE00003622217	11404704	11404866
ENSE00003628407	11460964	11461119
ENSE00003637050	11446748	11446910
ENSE00003647619	11450609	11450820
ENSE00003655129	11446550	11446636
ENSE00003676388	11462117	11462303
ENSE00003689104	11469508	11469667
ENSE00003753352	11398348	11398509
ENSE00003966315	11423865	11424026
ENSE00003966316	11527109	11527247

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 90.89.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	90.89	silver quality
kidney epithelium	UBERON:0004819	90.59	gold quality
vena cava	UBERON:0004087	90.44	silver quality
blood	UBERON:0000178	90.23	gold quality
left ventricle myocardium	UBERON:0006566	89.16	gold quality
epithelial cell of pancreas	CL:0000083	87.84	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.81	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.06	gold quality
myocardium	UBERON:0002349	86.84	gold quality
parotid gland	UBERON:0001831	86.20	gold quality
subthalamic nucleus	UBERON:0001906	86.05	silver quality
pons	UBERON:0000988	85.98	silver quality
body of tongue	UBERON:0011876	85.93	silver quality
dorsal plus ventral thalamus	UBERON:0001897	85.08	silver quality
vastus lateralis	UBERON:0001379	84.24	gold quality
substantia nigra pars compacta	UBERON:0001965	83.75	silver quality
pericardium	UBERON:0002407	83.55	silver quality
inferior vagus X ganglion	UBERON:0005363	83.50	silver quality
cardia of stomach	UBERON:0001162	83.42	gold quality
trachea	UBERON:0003126	83.12	silver quality
pylorus	UBERON:0001166	82.81	silver quality
medulla oblongata	UBERON:0001896	82.81	silver quality
superior vestibular nucleus	UBERON:0007227	82.09	silver quality
saphenous vein	UBERON:0007318	82.04	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.85	gold quality
cerebellar vermis	UBERON:0004720	81.71	gold quality
spleen	UBERON:0002106	81.44	gold quality
biceps brachii	UBERON:0001507	81.09	gold quality
renal medulla	UBERON:0000362	80.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.39

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkeyp-106c3.1	ENSDARG00000090623

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (5): A0A8Q3SIG1, M0QZD8, M0R1J3, M0R2I5, M0R2X1

RefSeq proteins (2): NP_001357633, NP_001382434 (=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): lipid transport (GO:0006869)

GO Molecular Function (1): lipid carrier activity (GO:0005319)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	1
lipid localization	1
molecular carrier activity	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

21352 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:11383767:A:C	F3224C	0.992
16:11516205:C:A	K152N	0.988
16:11516205:C:G	K152N	0.988
16:11385376:G:C	F3026L	0.987
16:11385376:G:T	F3026L	0.987
16:11385378:A:G	F3026L	0.987
16:11383926:A:C	F3205C	0.982
16:11385377:A:C	F3026C	0.982
16:11516004:C:A	K193N	0.981
16:11516004:C:G	K193N	0.981
16:11516190:G:C	S157R	0.981
16:11516190:G:T	S157R	0.981
16:11516192:T:G	S157R	0.981
16:11516203:C:G	R153P	0.981
16:11383766:G:C	F3224L	0.980
16:11383766:G:T	F3224L	0.980
16:11383768:A:G	F3224L	0.980
16:11515998:C:A	K195N	0.980
16:11515998:C:G	K195N	0.980
16:11383696:A:C	Y3248D	0.979
16:11383895:G:C	C3215W	0.978
16:11384219:C:A	W3176C	0.978
16:11384219:C:G	W3176C	0.978
16:11516044:C:G	C180S	0.978
16:11516045:A:T	C180S	0.978
16:11385301:G:C	F3051L	0.977
16:11385301:G:T	F3051L	0.977
16:11385303:A:G	F3051L	0.977
16:11515984:C:G	C200S	0.977
16:11515985:A:T	C200S	0.977

dbSNP variants (sampled 300 via entrez): RS1000006360 (16:11412608 C>A,T), RS1000009588 (16:11383485 C>T), RS1000019351 (16:11511657 T>G), RS1000033877 (16:11449783 G>A,C), RS1000034551 (16:11513324 G>T), RS1000044122 (16:11440825 G>C), RS1000045228 (16:11487343 G>A), RS1000050588 (16:11519665 G>A,C), RS1000098476 (16:11436707 C>G,T), RS1000111041 (16:11439893 A>C,G), RS1000120972 (16:11512421 G>A,C), RS1000133371 (16:11377442 T>C), RS1000137977 (16:11450122 C>G,T), RS1000148859 (16:11478942 G>A), RS1000166963 (16:11509269 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

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