ACTL10

Summary

ACTL10 (actin like 10, HGNC:16127) is a protein-coding gene on chromosome 20q11.22, encoding Actin-like protein 10 (Q5JWF8).

Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in cytoskeleton organization. Predicted to be active in actin cytoskeleton.

Source: NCBI Gene 170487 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Clinical variants (ClinVar): 63 total
• GTEx eGene: eQTL in 15 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.95 (unconstrained)
• MANE Select transcript: NM_001024675
• Notable: 63 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16127
Approved symbol	ACTL10
Name	actin like 10
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000288649
Ensembl biotype	protein_coding
Entrez	170487

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

MANE Select: ENST00000677665

ENST00000677665

RefSeq mRNA: 1 — MANE Select: NM_001024675 NM_001024675

CCDS: CCDS33463

Canonical transcript exons

ENST00000677665 — 1 exons

Exon	Start	End
ENSE00003907388	33666943	33668525

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 87.52.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0732 / max 86.6083, expressed in 383 samples.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, granulocyte, stromal cell of endometrium, mucosa of transverse colon, coronary artery.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACTL10 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

15 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Mucosa	eqtl	5.7e-07	+0.18	20:33658063:C:G
Adrenal Gland	eqtl	4.2e-06	+0.39	20:33658063:C:G
Pancreas	eqtl	4.9e-05	+0.24	20:33665473:A:AAAAC
Liver	eqtl	5.4e-05	+0.39	20:33593787:A:AAG
Adipose Subcutaneous	eqtl	1.7e-04	-0.21	20:33344241:T:G
Cells Cultured fibroblasts	eqtl	1.2e-03	+0.16	20:33755105:A:G
Colon Transverse	eqtl	1.6e-03	-0.12	20:33411689:T:C
Skin Sun Exposed Lower leg	eqtl	2.0e-03	+0.14	20:33779596:A:G
Lung	eqtl	4.9e-03	+0.13	20:33776997:G:C
Prostate	eqtl	6.1e-03	+0.19	20:33715969:C:T
Thyroid	eqtl	1.1e-02	+0.13	20:33705210:G:A
Muscle Skeletal	eqtl	1.3e-02	+0.17	20:33587440:A:G
Spleen	eqtl	2.5e-02	-0.29	20:33932197:T:C
Heart Left Ventricle	eqtl	4.0e-02	+0.42	20:33321277:C:T
Brain Hypothalamus	eqtl	4.7e-02	-0.41	20:33409571:G:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
184171	0.8578	318
184170	0.2154	91

Top tissues by expression

showing 100 of 127 tissues 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	87.52	gold quality
granulocyte	CL:0000094	67.44	gold quality
stromal cell of endometrium	CL:0002255	63.35	gold quality
mucosa of transverse colon	UBERON:0004991	61.75	gold quality
right coronary artery	UBERON:0001625	59.43	gold quality
left coronary artery	UBERON:0001626	59.30	gold quality
descending thoracic aorta	UBERON:0002345	58.11	gold quality
spleen	UBERON:0002106	57.74	gold quality
thoracic aorta	UBERON:0001515	57.59	gold quality
leukocyte	CL:0000738	57.40	gold quality
ascending aorta	UBERON:0001496	56.92	gold quality
apex of heart	UBERON:0002098	56.59	gold quality
monocyte	CL:0000576	56.46	gold quality
blood	UBERON:0000178	55.87	gold quality
esophagus mucosa	UBERON:0002469	55.81	gold quality
left uterine tube	UBERON:0001303	55.06	gold quality
bone marrow cell	CL:0002092	54.30	gold quality
esophagus	UBERON:0001043	54.18	gold quality
skeletal muscle tissue	UBERON:0001134	53.53	silver quality
lower esophagus muscularis layer	UBERON:0035833	53.48	gold quality
lower esophagus	UBERON:0013473	53.47	gold quality
body of pancreas	UBERON:0001150	53.30	gold quality
mucosa of stomach	UBERON:0001199	52.97	gold quality
tibial artery	UBERON:0007610	52.84	gold quality
popliteal artery	UBERON:0002250	52.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	52.69	gold quality
myometrium	UBERON:0001296	51.64	gold quality
endocervix	UBERON:0000458	51.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	51.43	gold quality
prostate gland	UBERON:0002367	51.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	50.26	gold quality
lower esophagus mucosa	UBERON:0035834	50.08	gold quality
body of uterus	UBERON:0009853	50.01	gold quality
colonic epithelium	UBERON:0000397	49.98	gold quality
fundus of stomach	UBERON:0001160	49.38	gold quality
skin of abdomen	UBERON:0001416	49.26	gold quality
transverse colon	UBERON:0001157	49.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	49.05	gold quality
body of stomach	UBERON:0001161	48.80	gold quality
ectocervix	UBERON:0012249	48.68	gold quality
zone of skin	UBERON:0000014	48.62	gold quality
uterine cervix	UBERON:0000002	48.42	gold quality
skin of leg	UBERON:0001511	48.41	gold quality
tibial nerve	UBERON:0001323	48.25	gold quality
muscle tissue	UBERON:0002385	48.23	silver quality
colon	UBERON:0001155	48.03	gold quality
urinary bladder	UBERON:0001255	47.91	gold quality
metanephros cortex	UBERON:0010533	47.80	gold quality
ventricular zone	UBERON:0003053	47.59	silver quality
adult mammalian kidney	UBERON:0000082	47.47	gold quality
cortical plate	UBERON:0005343	47.35	silver quality
small intestine	UBERON:0002108	47.34	gold quality
intestine	UBERON:0000160	47.20	gold quality
right lobe of liver	UBERON:0001114	47.11	gold quality
right uterine tube	UBERON:0001302	46.98	gold quality
stomach	UBERON:0000945	46.82	gold quality
subcutaneous adipose tissue	UBERON:0002190	46.75	gold quality
right lobe of thyroid gland	UBERON:0001119	46.69	gold quality
adipose tissue	UBERON:0001013	46.45	gold quality
bone marrow	UBERON:0002371	46.43	silver quality
liver	UBERON:0002107	46.03	silver quality
vagina	UBERON:0000996	45.89	gold quality
omental fat pad	UBERON:0010414	45.77	gold quality
pancreas	UBERON:0001264	45.41	gold quality
minor salivary gland	UBERON:0001830	45.29	gold quality
kidney	UBERON:0002113	44.83	gold quality
saliva-secreting gland	UBERON:0001044	44.57	gold quality
multicellular organism	UBERON:0000468	44.37	gold quality
left lobe of thyroid gland	UBERON:0001120	44.01	gold quality
heart left ventricle	UBERON:0002084	43.75	gold quality
cortex of kidney	UBERON:0001225	43.59	gold quality
heart	UBERON:0000948	43.38	gold quality
thyroid gland	UBERON:0002046	43.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	43.08	gold quality
right ovary	UBERON:0002118	43.00	gold quality
tonsil	UBERON:0002372	42.28	silver quality
lymph node	UBERON:0000029	42.06	gold quality
muscle of leg	UBERON:0001383	41.58	gold quality
gastrocnemius	UBERON:0001388	41.54	gold quality
prefrontal cortex	UBERON:0000451	41.26	gold quality
thoracic mammary gland	UBERON:0005200	40.85	gold quality
left adrenal gland	UBERON:0001234	40.70	gold quality
left adrenal gland cortex	UBERON:0035825	39.97	gold quality
right atrium auricular region	UBERON:0006631	39.94	gold quality
adrenal gland	UBERON:0002369	39.88	gold quality
duodenum	UBERON:0002114	39.83	gold quality
upper lobe of left lung	UBERON:0008952	39.77	gold quality
fallopian tube	UBERON:0003889	39.68	gold quality
superior frontal gyrus	UBERON:0002661	39.29	silver quality
calcaneal tendon	UBERON:0003701	39.24	gold quality
right adrenal gland	UBERON:0001233	39.18	gold quality
Ammon’s horn	UBERON:0001954	39.15	gold quality
ganglionic eminence	UBERON:0004023	38.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	38.48	silver quality
vermiform appendix	UBERON:0001154	38.45	gold quality
putamen	UBERON:0001874	38.38	gold quality
right adrenal gland cortex	UBERON:0035827	37.94	gold quality
lung	UBERON:0002048	37.80	gold quality
ovary	UBERON:0000992	37.54	gold quality
substantia nigra	UBERON:0002038	37.11	silver quality

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 69 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Testis	tissue	7.4
Cerebral cortex	tissue	6.4
Insular cortex	tissue	6.4
Choroid plexus	tissue	6.3
Hippocampal formation	tissue	5.8
Entorhinal cortex	tissue	5.8
Amygdala	tissue	5.6
Retrosplenial cortex	tissue	5.3
Occipital cortex	tissue	5.3
Temporal cortex	tissue	5.2
Postcentral gyrus	tissue	5.1
Locus coeruleus	tissue	4.9
Hippocampus	tissue	4.9
Retrosplenial and cingulate cortex	tissue	4.9
Somatosensory cortex	tissue	4.7
Prefrontal cortex	tissue	4.6
Spinal cord	tissue	4.2
Motor cortex	tissue	3.8
Corpus callosum	tissue	3.7
Olfactory bulb	tissue	3.7
Nucleus accumbens	tissue	3.5
Hypothalamus	tissue	2.7
Substantia nigra	tissue	2.3
Periaqueductal gray	tissue	2.3
Midbrain	tissue	2.2
Basal ganglia	tissue	2.1
Medulla oblongata	tissue	2.1
Pons	tissue	1.7
Thalamus	tissue	1.7
Superior colliculi	tissue	1.6
Septum	tissue	1.5
Ventral forebrain	tissue	1.3
Stomach 1	tissue	1.2
Pancreas	tissue	1.2
Putamen	tissue	1.0
Vagina	tissue	0.9
Prostate	tissue	0.9
Pituitary gland	tissue	0.8
Salivary gland	tissue	0.7
Skin 1	tissue	0.6
Colon	tissue	0.6
Cerebellum	tissue	0.6
Duodenum	tissue	0.6
Seminal vesicle	tissue	0.5
Spleen	tissue	0.5
Small intestine	tissue	0.4
Lymph node	tissue	0.3
Breast	tissue	0.3
Ovary	tissue	0.3
Adipose tissue	tissue	0.3
Urinary bladder	tissue	0.3
Epididymis	tissue	0.3
Fallopian tube	tissue	0.3
Appendix	tissue	0.3
Rectum	tissue	0.2
Parathyroid gland	tissue	0.2
Skeletal muscle	tissue	0.2
Thyroid gland	tissue	0.2
Lung	tissue	0.2
Kidney	tissue	0.2

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Precentral gyrus (7.3), Nucleus ambiguus (7.2), Basal amygdala (6.7), Posterior cingulate cortex, dorsal (6.7), Temporo-insular cortex, parainsular gyrus (6.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ACTL10 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

19 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-5590-5P	98.81	68.78	969
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512
HSA-MIR-4418	97.04	67.16	1372
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-7160-3P	96.40	64.15	462

Functional genomics

gnomAD constraint: pLI 0.00274, LOEUF 1.95, missense Z -1.48 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000677665 — one region, missense o/e 1.15.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Actl10	ENSMUSG00000078129
rattus_norvegicus	Actl10	ENSRNOG00000075669

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1917612) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased circulating fructosamine level	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Aspergillus fumigatus Af293	Q4WHA3	87.3%	Diamond
Aspergillus nidulans FGSC A4	Q5AW89	87.3%	Diamond
Gallus gallus	Q5ZJA4	78.9%	Diamond
Drosophila melanogaster	Q9VEC3	78.7%	Diamond
Debaryomyces hansenii CBS767	Q6BXN0	73.9%	Diamond
Neurospora crassa OR74A	Q7SHR0	72.3%	Diamond
Eremothecium gossypii ATCC 10895	Q754G5	62.4%	Diamond
Kluyveromyces lactis NRRL Y-1140	Q6CSB9	60.0%	Diamond
Candida albicans SC5314	Q5AC48	59.2%	Diamond
Aedes aegypti	Q17GZ9	46.8%	Diamond
Dictyostelium discoideum	Q54KZ7	42.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
E2F1	protein-coding	1869
NECAB3	protein-coding	63941
ZNF341	protein-coding	84905
C20orf144	protein-coding	128864
CDK5RAP1	protein-coding	51654
SNTA1	protein-coding	6640
CBFA2T2	protein-coding	9139
PXMP4	protein-coding	11264

Protein

Protein identifiers

Actin-like protein 10 — Q5JWF8 (reviewed: Q5JWF8)

All UniProt accessions (1): Q5JWF8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the actin family.

RefSeq proteins (1): NP_001019846* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

UniProt features (1 total): chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JWF8-F1	93.57	0.83

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): plasma membrane; vesicles; nucleoplasm

Antibody reliability (HPA): IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 33 (showing top): chr20q11, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MIR4776_3P, MIR5590_5P, GSE11924_TH1_VS_TH17_CD4_TCELL_UP, GSE14308_TH17_VS_NAIVE_CD4_TCELL_DN, GSE14308_TH17_VS_NATURAL_TREG_DN, BLANCO_MELO_BRONCHIAL_EPITHELIAL_CELLS_INFLUENZA_A_DEL_NS1_INFECTION_UP, GSE14769_UNSTIM_VS_20MIN_LPS_BMDM_UP, GSE16522_ANTI_CD3CD28_STIM_VS_UNSTIM_NAIVE_CD8_TCELL_UP, HOEK_MONOCYTE_2011_2012_TIV_ADULT_1DY_DN, HARALAMBIEVA_PBMC_FLUARIX_AGE_50_74YO_CORR_WITH_28D_MEM_B_CELL_RESPONSE_AT_3DY_NEGATIVE, HARALAMBIEVA_PBMC_TIV_AGE_50_74YO_CORRELATED_WITH_MEMORY_B_CELL_RESPONSE_3DY_NEGATIVE, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_4H_CD4_TCELL_DN

GO Biological Process (1): cytoskeleton organization (GO:0007010)

GO Molecular Function (1): structural constituent of cytoskeleton (GO:0005200)

GO Cellular Component (1): actin cytoskeleton (GO:0015629)

GO top-level categories

4 GO namespaces:

Category	Terms
cytoskeleton	2
organelle organization	1
structural molecule activity	1
cytoskeleton organization	1

Protein interactions and networks

STRING

showing 15 of 1,125 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTL10	NECAB3	Q96P71	649
ACTL10	C20orf144	Q9BQM9	467
ACTL10	PABIR3	Q6P4D5	418
ACTL10	POM121L1P	Q3SYA9	405
ACTL10	SLC35E4	Q6ICL7	400
ACTL10	CBFA2T2	O43439	360
ACTL10	RGS9	O75916	358
ACTL10	ZNF714	Q96N38	351
ACTL10	SYCE1	Q8N0S2	348
ACTL10	NAPRT	Q6XQN6	344
ACTL10	GGTLC1	Q9BX51	340
ACTL10	PXMP4	Q9Y6I8	324
ACTL10	KIAA2013	Q8IYS2	322
ACTL10	PIGU	Q9H490	309
ACTL10	ZNF541	Q9H0D2	305

Disease & clinical

Genetic variants

Variant evidence for ACTL10: 63 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	7
Benign	0

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Prostate Adenocarcinoma)

Disease associations

OMIM: gene `` | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methyleugenol	increases expression	1
cordycepin	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
N-Nitrosopyrrolidine	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.