ARL14EPL

Summary

ARL14EPL (ARF like GTPase 14 effector protein like, HGNC:44201) is a protein-coding gene on chromosome 5q23.1, encoding ARL14 effector protein-like (P0DKL9).

At a glance

• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_001195581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44201
Approved symbol	ARL14EPL
Name	ARF like GTPase 14 effector protein like
Location	5q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000268223
Ensembl biotype	protein_coding
Entrez	644100

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000601302, ENST00000686077

RefSeq mRNA: 3 — MANE Select: NM_001195581 NM_001195581, NM_001385024, NM_001393974

CCDS: CCDS59490

Canonical transcript exons

ENST00000686077 — 4 exons

Exon	Start	End
ENSE00003787001	116051457	116051561
ENSE00003828134	116054014	116054153
ENSE00003926708	116032472	116032505
ENSE00003929349	116058725	116059489

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 91.02.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2186 / max 78.9765, expressed in 48 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58070	0.0972	20
58068	0.0507	13
58069	0.0242	8
58066	0.0184	7
58067	0.0172	5
58065	0.0109	2

Top tissues by expression

110 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	91.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	48.90	gold quality
placenta	UBERON:0001987	43.79	gold quality
lymph node	UBERON:0000029	42.38	gold quality
vermiform appendix	UBERON:0001154	40.76	gold quality
bone marrow cell	CL:0002092	40.40	gold quality
monocyte	CL:0000576	39.85	silver quality
endometrium	UBERON:0001295	39.61	gold quality
leukocyte	CL:0000738	39.40	silver quality
granulocyte	CL:0000094	39.39	gold quality
tonsil	UBERON:0002372	38.54	gold quality
calcaneal tendon	UBERON:0003701	37.76	gold quality
right lung	UBERON:0002167	37.45	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.47	gold quality
adrenal tissue	UBERON:0018303	36.06	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
subcutaneous adipose tissue	UBERON:0002190	34.88	silver quality
gall bladder	UBERON:0002110	33.63	gold quality
kidney	UBERON:0002113	33.56	silver quality
adipose tissue	UBERON:0001013	33.53	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
urinary bladder	UBERON:0001255	31.99	silver quality
pituitary gland	UBERON:0000007	31.35	gold quality
fallopian tube	UBERON:0003889	29.91	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting ARL14EPL, 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-3185	99.99	68.12	1959
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-455-3P	98.94	67.68	878
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-924	97.78	66.21	681
HSA-MIR-6802-3P	97.29	65.42	613

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:153292	ENSDARG00000070458
danio_rerio		ENSDARG00000076082
danio_rerio	zgc:163143	ENSDARG00000076437
mus_musculus	Arl14epl	ENSMUSG00000073568
rattus_norvegicus	Arl14epl	ENSRNOG00000025590
drosophila_melanogaster	CG13894	FBGN0035157

Paralogs (7): THAP3 (ENSG00000041988), THAP1 (ENSG00000131931), ARL14EP (ENSG00000152219), THAP8 (ENSG00000161277), THAP2 (ENSG00000173451), THAP6 (ENSG00000174796), THAP7 (ENSG00000184436)

Protein

Protein identifiers

ARL14 effector protein-like — P0DKL9 (reviewed: P0DKL9)

All UniProt accessions (1): P0DKL9

RefSeq proteins (3): NP_001182510, NP_001371953, NP_001380903 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029264	ARF7EP_C	Domain
IPR053130	ARL14_effector	Family

Pfam: PF14949

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DKL9-F1	81.42	0.55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): HES2_TARGET_GENES, IGLV5_37_TARGET_GENES, LHX9_TARGET_GENES, ZNF175_TARGET_GENES, MIR3185, MIR511_3P, HBZ_TARGET_GENES, ZBTB44_TARGET_GENES, chr5q23

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARL14EPL	CLEC18B	Q6UXF7	575
ARL14EPL	ANO8	Q9HCE9	497
ARL14EPL	BICDL1	Q6ZP65	439
ARL14EPL	TENM2	Q9NT68	378
ARL14EPL	CSRNP1	Q96S65	368
ARL14EPL	DEFA6	Q01524	354
ARL14EPL	ATF7IP	Q6VMQ6	348
ARL14EPL	SUOX	P51687	340
ARL14EPL	ITGA11	Q9UKX5	300
ARL14EPL	OSCP1	Q8WVF1	294
ARL14EPL	PDRG1	Q9NUG6	292
ARL14EPL	CDO1	P78513	270
ARL14EPL	NAA50	Q9GZZ1	253
ARL14EPL	TMEM65	Q6PI78	252
ARL14EPL	NHLRC2	Q8NBF2	252

IntAct

0 interactions, top by confidence:

BioGRID (1): ARL14EPL (Negative Genetic)

ESM2 similar proteins: A0PJ23, A9JR22, A9JR44, B0BLK0, B0BLK7, B0BLK9, B2C4J2, B2MW50, B2ZDY1, G5EED4, J7H5K9, O10310, O73557, O74772, P05075, P05076, P05077, P0C9W8, P0C9W9, P0DKL9, P18541, P19325, P27426, P36707, P41457, P41474, Q06834, Q11107, Q197D3, Q27YE2, Q27YE6, Q3UKZ7, Q5UPV2, Q65209, Q6BET5, Q6IUF9, Q6IVU5, Q6R7A2, Q6R7D2, Q6R7D3

Diamond homologs: P0DKL9, Q3UKZ7, Q5EA92, Q5FVK8, Q8BIX3, Q8N8R7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1043 predictions. Top by Δscore:

Variant	Effect	Δscore
5:116049602:C:G	donor_gain	1.0000
5:116051455:A:G	acceptor_gain	1.0000
5:116052345:C:G	donor_gain	1.0000
5:116054012:A:AG	acceptor_gain	1.0000
5:116054013:G:GG	acceptor_gain	1.0000
5:116054154:G:GG	donor_gain	1.0000
5:116058723:A:AG	acceptor_gain	1.0000
5:116058724:G:GG	acceptor_gain	1.0000
5:116032501:GAAGC:G	donor_gain	0.9900
5:116032504:GC:G	donor_gain	0.9900
5:116032506:G:GG	donor_gain	0.9900
5:116034106:GGCTC:G	donor_gain	0.9900
5:116051454:A:AG	acceptor_gain	0.9900
5:116051454:AAGT:A	acceptor_gain	0.9900
5:116051456:G:GG	acceptor_gain	0.9900
5:116054001:ATTT:A	acceptor_loss	0.9900
5:116054010:ATAG:A	acceptor_loss	0.9900
5:116054013:G:A	acceptor_loss	0.9900
5:116054013:GC:G	acceptor_gain	0.9900
5:116054013:GCA:G	acceptor_gain	0.9900
5:116054013:GCAA:G	acceptor_gain	0.9900
5:116054013:GCAAC:G	acceptor_gain	0.9900
5:116054150:ACAAG:A	donor_loss	0.9900
5:116054151:CAAG:C	donor_loss	0.9900
5:116054151:CAAGT:C	donor_loss	0.9900
5:116054152:AAGT:A	donor_loss	0.9900
5:116054153:AGTA:A	donor_loss	0.9900
5:116054153:AGTAA:A	donor_loss	0.9900
5:116054154:GTA:G	donor_loss	0.9900
5:116054154:GTAA:G	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000049300 (5:116045237 A>C), RS1000090750 (5:116042182 G>A,T), RS1000155055 (5:116034808 T>C), RS1000157337 (5:116041111 A>G), RS1000211637 (5:116041352 T>C), RS1000241779 (5:116056061 G>A), RS1000310513 (5:116052210 G>A,C), RS1000315189 (5:116036175 T>C), RS1000468520 (5:116030810 T>C), RS1000507203 (5:116045510 A>G), RS1000519266 (5:116031060 G>A), RS1000530940 (5:116038524 T>C), RS1000771157 (5:116036533 ATG>A), RS1000842578 (5:116032505 C>A,G,T), RS1000957756 (5:116057823 A>C,G)

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Cadmium	increases expression, increases abundance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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