PLAC8L1

Summary

PLAC8L1 (PLAC8 like 1, HGNC:31746) is a protein-coding gene on chromosome 5q32, encoding PLAC8-like protein 1 (A1L4L8).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_001029869

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31746
Approved symbol	PLAC8L1
Name	PLAC8 like 1
Location	5q32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173261
Ensembl biotype	protein_coding
Entrez	153770

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000311450, ENST00000512998

RefSeq mRNA: 1 — MANE Select: NM_001029869 NM_001029869

CCDS: CCDS34264

Canonical transcript exons

ENST00000311450 — 4 exons

Exon	Start	End
ENSE00001202503	146085461	146085597
ENSE00001202511	146084313	146084572
ENSE00001313917	146098156	146098292
ENSE00003841446	146104193	146105577

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 87.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2028 / max 54.2742, expressed in 56 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63982	0.1911	52
63981	0.0118	4

Top tissues by expression

235 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	87.77	gold quality
sperm	CL:0000019	83.81	gold quality
pancreatic ductal cell	CL:0002079	82.54	silver quality
tibialis anterior	UBERON:0001385	79.74	gold quality
upper arm skin	UBERON:0004263	79.14	gold quality
left testis	UBERON:0004533	78.76	gold quality
right testis	UBERON:0004534	77.49	gold quality
testis	UBERON:0000473	77.01	gold quality
ileal mucosa	UBERON:0000331	75.35	gold quality
deltoid	UBERON:0001476	72.45	silver quality
tendon of biceps brachii	UBERON:0008188	71.52	silver quality
lower lobe of lung	UBERON:0008949	70.73	gold quality
epithelial cell of pancreas	CL:0000083	68.80	gold quality
medial globus pallidus	UBERON:0002477	67.45	silver quality
nasal cavity epithelium	UBERON:0005384	67.36	gold quality
cardiac muscle of right atrium	UBERON:0003379	66.37	gold quality
globus pallidus	UBERON:0001875	66.27	silver quality
left ventricle myocardium	UBERON:0006566	65.99	gold quality
adult organism	UBERON:0007023	65.22	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	64.14	gold quality
spinal cord	UBERON:0002240	63.98	gold quality
cerebellar hemisphere	UBERON:0002245	63.87	gold quality
layer of synovial tissue	UBERON:0007616	63.81	gold quality
cerebellar cortex	UBERON:0002129	63.80	gold quality
Brodmann (1909) area 23	UBERON:0013554	63.45	silver quality
cerebellum	UBERON:0002037	63.43	gold quality
quadriceps femoris	UBERON:0001377	63.33	gold quality
saphenous vein	UBERON:0007318	63.13	gold quality
inferior vagus X ganglion	UBERON:0005363	62.99	silver quality
gastrocnemius	UBERON:0001388	62.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting PLAC8L1, 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-12118	100.00	65.88	1270
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4748	98.95	67.53	810
HSA-MIR-4464	98.95	67.73	820
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-6887-5P	98.56	68.49	1295

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	plac8l1	ENSDARG00000069031
mus_musculus	Plac8l1	ENSMUSG00000059455
rattus_norvegicus	Plac8l1	ENSRNOG00000018820

Paralogs (2): CNFN (ENSG00000105427), PLAC8 (ENSG00000145287)

Protein

Protein identifiers

PLAC8-like protein 1 — A1L4L8 (reviewed: A1L4L8)

All UniProt accessions (2): A1L4L8, D6RBV4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the cornifelin family.

RefSeq proteins (1): NP_001025040* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006461	PLAC_motif_containing	Family

Pfam: PF04749

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L4L8-F1	72.50	0.51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): chr5q32, MIR548AJ_3P_MIR548X_3P, MIR548AE_3P_MIR548AQ_3P, MIR548AH_3P_MIR548AM_3P, MIR548J_3P, MIR4729, MIR6509_3P, MIR181A_2_3P, GSE11924_TFH_VS_TH2_CD4_TCELL_DN, MIR6763_5P, MIR3150A_3P, GSE15324_ELF4_KO_VS_WT_NAIVE_CD8_TCELL_UP, GSE15750_WT_VS_TRAF6KO_DAY10_EFF_CD8_TCELL_DN, DESCARTES_MAIN_FETAL_HORIZONTAL_CELLS, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_1H_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLAC8L1	ARB2A	Q8WUF8	710
PLAC8L1	GRIK3	Q13003	561
PLAC8L1	RNPC3	Q96LT9	523
PLAC8L1	PCYOX1	Q9UHG3	517
PLAC8L1	HMHB1	O97980	506
PLAC8L1	TDRD3	Q9H7E2	461
PLAC8L1	GRXCR2	A6NFK2	453
PLAC8L1	ENKUR	Q8TC29	452
PLAC8L1	ZNF320	A2RRD8	432
PLAC8L1	OIT3	Q8WWZ8	422
PLAC8L1	PRDM10	Q9NQV6	417
PLAC8L1	ANAPC7	Q9UJX3	408
PLAC8L1	ADSL	P30566	404
PLAC8L1	PRELID2	Q8N945	404
PLAC8L1	COL22A1	Q8NFW1	398

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PLAC8L1	DLG1	psi-mi:“MI:0915”(physical association)	0.400
PLAC8L1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PLAC8L1	TCP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): CCT3 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), A2ML1 (Affinity Capture-MS), POF1B (Affinity Capture-MS), S100A7 (Affinity Capture-MS), ACPP (Affinity Capture-MS), SERPINB3 (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS), ZDHHC17 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), PDCL3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), PDCL (Affinity Capture-MS), CLTCL1 (Affinity Capture-MS)

ESM2 similar proteins: A1L4L8, A2VDU1, A5D992, A5PLH4, B4FF80, B4FUS3, B6SJQ0, B6TZ45, C9JQL5, D9HP19, D9HP20, D9HP25, D9HP27, E7FH11, E9QCD3, F4HZZ4, F4I1X0, O43597, O43609, P0CW98, Q01628, Q07549, Q08EJ0, Q1L0X2, Q2PFN5, Q2TBG9, Q2TGJ1, Q3EBY6, Q3UUD2, Q5R959, Q5U2S1, Q5XGR4, Q8BQQ1, Q8IZN3, Q8L7E9, Q8R0W6, Q8S8T8, Q92052, Q99J93, Q9BT67

Diamond homologs: A1L4L8, Q08EJ0, Q0VBW2, Q3ZCB2, Q5REK4, Q66I68, Q6DK93, Q6DK99, Q6NUC1, Q6PCW6, Q9BYD5, Q9JI48, Q9NZF1, D9HP27, Q9M9A5, D9HP19, D9HP23, D9HP26, P0CW97, Q9LQU2, Q9LQU4, D9HP25, Q9LS43

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

505 predictions. Top by Δscore:

Variant	Effect	Δscore
5:146085573:A:C	acceptor_gain	0.9900
5:146098154:A:AC	donor_gain	0.9900
5:146098155:C:CC	donor_gain	0.9900
5:146098293:C:G	acceptor_gain	0.9800
5:146104297:TCCAA:T	donor_gain	0.9800
5:146104297:T:TA	donor_gain	0.9700
5:146098155:CAAA:C	donor_gain	0.9600
5:146098319:T:C	acceptor_gain	0.9600
5:146085564:T:TG	acceptor_gain	0.9400
5:146098155:CAA:C	donor_gain	0.9400
5:146104188:CCTA:C	donor_loss	0.9300
5:146104190:TACCT:T	donor_loss	0.9300
5:146104179:AC:A	donor_gain	0.9200
5:146104180:CC:C	donor_gain	0.9200
5:146098167:T:C	donor_gain	0.9100
5:146096853:T:TA	donor_gain	0.9000
5:146098319:T:TG	acceptor_gain	0.9000
5:146098155:CA:C	donor_gain	0.8900
5:146084537:G:T	acceptor_gain	0.8800
5:146098291:CT:C	acceptor_gain	0.8800
5:146085629:TCTC:T	acceptor_gain	0.8700
5:146085573:A:AC	acceptor_gain	0.8500
5:146098148:AAACT:A	donor_loss	0.8400
5:146098149:AACTT:A	donor_loss	0.8400
5:146098150:ACTTA:A	donor_loss	0.8400
5:146098151:CTTAC:C	donor_loss	0.8400
5:146098152:TTACA:T	donor_loss	0.8400
5:146098153:TACAA:T	donor_loss	0.8400
5:146098154:A:T	donor_loss	0.8400
5:146098290:CCT:C	acceptor_gain	0.8400

AlphaMissense

1162 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:146085479:C:A	R125S	0.988
5:146085479:C:G	R125S	0.988
5:146084557:C:G	D137H	0.982
5:146098196:C:A	W72C	0.982
5:146098196:C:G	W72C	0.982
5:146085480:C:G	R125T	0.981
5:146084556:T:G	D137A	0.979
5:146085480:C:A	R125M	0.976
5:146084505:C:G	R154P	0.974
5:146085491:T:A	R121S	0.973
5:146085491:T:G	R121S	0.973
5:146098198:A:G	W72R	0.972
5:146098198:A:T	W72R	0.972
5:146084556:T:A	D137V	0.965
5:146084554:A:G	W138R	0.964
5:146084554:A:T	W138R	0.964
5:146085465:A:G	I130T	0.963
5:146084556:T:C	D137G	0.957
5:146084555:G:C	D137E	0.956
5:146084555:G:T	D137E	0.956
5:146085498:G:T	A119E	0.955
5:146085492:C:G	R121T	0.949
5:146085552:G:T	A101D	0.942
5:146085481:T:C	R125G	0.940
5:146084536:A:G	C144R	0.938
5:146084509:C:G	A153P	0.934
5:146098197:C:G	W72S	0.932
5:146085526:A:G	W110R	0.931
5:146085526:A:T	W110R	0.931
5:146084572:C:G	G132R	0.925

dbSNP variants (sampled 300 via entrez): RS1000013830 (5:146101165 C>A), RS1000082081 (5:146100852 G>A), RS1000219849 (5:146103288 T>C), RS1000268930 (5:146103581 C>A), RS1000352464 (5:146090344 G>C,T), RS1000438980 (5:146087063 A>G), RS1000772235 (5:146088688 T>C), RS1000877212 (5:146097879 C>A,G,T), RS1000969448 (5:146084304 T>A,C), RS1001121217 (5:146088234 T>A), RS1001330980 (5:146087856 G>A), RS1001413548 (5:146094580 T>C), RS1001462193 (5:146103980 T>C), RS1001562608 (5:146097974 T>A,G), RS1002120955 (5:146084685 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

1 associations (top):

Study	Trait	p-value
GCST009173_1	Response to (pegylated) interferon in HBeAG-positive hepatitis B	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007859	response to interferon

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
sulforaphane	decreases expression	1
CGP 52608	affects binding, increases reaction	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	affects binding, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	decreases expression, affects cotreatment	1
Copper	affects binding, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Drugs, Chinese Herbal	increases expression	1
Naphthoquinones	increases expression	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Thapsigargin	increases expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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