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 active in actin cytoskeleton.

Source: NCBI Gene 170487 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 64 total — 1 pathogenic
• MANE Select transcript: NM_001024675

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

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.

FANTOM5 promoters (2 alternative TSS)

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

Top tissues by expression

127 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	87.52	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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting ACTL10, 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-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

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)

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

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

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

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 (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton	1

Protein interactions and networks

STRING

1848 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTL10	NECAB3	Q96P71	620
ACTL10	C20orf144	Q9BQM9	607
ACTL10	POM121L1P	Q3SYA9	545
ACTL10	SLC35E4	Q6ICL7	476
ACTL10	RGS9	O75916	418
ACTL10	GGTLC1	Q9BX51	401
ACTL10	KIAA2013	Q8IYS2	397
ACTL10	PIGU	Q9H490	396
ACTL10	PXMP4	Q9Y6I8	364
ACTL10	SVOPL	Q8N434	357
ACTL10	MCTS2	A0A3B3IRV3	354
ACTL10	ITCH	Q96J02	343
ACTL10	SEL1L3	Q68CR1	331
ACTL10	GET1	O00258	322
ACTL10	ANO9	A1A5B4	311

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JNU3, A2AKE7, A6H603, A6QQ74, D3ZBP4, F1MH07, O43542, Q149M9, Q2T9W4, Q2TA43, Q2V057, Q32KZ2, Q32L91, Q3ZBE0, Q49HH9, Q49KI5, Q4QR76, Q4R317, Q4R6Q3, Q4R821, Q5JWF8, Q5REQ1, Q5XIK1, Q641W9, Q643R3, Q68FW7, Q6AY16, Q6NVG1, Q76HM9, Q86U10, Q8CG27, Q8K4F6, Q8TC94, Q8TDG2, Q8TDY3, Q8TDZ2, Q8VCZ9, Q8VDP3, Q8VEI3, Q95JK8

Diamond homologs: A2AKE7, A2BDB0, A3C6D7, O17320, O18840, O65314, O93400, P02572, P02576, P02578, P07828, P07829, P07830, P0C539, P10984, P10995, P12432, P12433, P12716, P18602, P20904, P29751, P30163, P41339, P41341, P43239, P45520, P48975, P49055, P49128, P53458, P53459, P53465, P53470, P53471, P53472, P53477, P53478, P53479, P53498

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	56
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3248260	NC_000020.10:g.(?31368130)(34287210_?)del	Pathogenic

SpliceAI

117 predictions. Top by Δscore:

Variant	Effect	Δscore
20:33666991:C:CA	donor_gain	0.9700
20:33668247:C:CC	acceptor_gain	0.8600
20:33666952:AGGCT:A	donor_gain	0.8100
20:33668268:T:TA	acceptor_gain	0.7200
20:33668246:A:AC	acceptor_gain	0.7100
20:33666992:C:A	donor_gain	0.6900
20:33668247:C:A	acceptor_gain	0.6700
20:33668220:C:A	acceptor_gain	0.6400
20:33668284:ATC:A	acceptor_gain	0.6200
20:33668285:TCT:T	acceptor_gain	0.6200
20:33668269:G:A	acceptor_gain	0.6000
20:33668212:CTG:C	acceptor_gain	0.5700
20:33668286:C:A	acceptor_gain	0.5600
20:33668287:T:A	acceptor_gain	0.5600
20:33668242:CTGGA:C	acceptor_gain	0.5300
20:33668287:T:TG	acceptor_gain	0.5200
20:33667127:C:A	donor_gain	0.5100
20:33668244:GGAC:G	acceptor_gain	0.5100
20:33668282:CTAT:C	acceptor_gain	0.4900
20:33668294:T:A	acceptor_gain	0.4700
20:33668218:T:TA	acceptor_gain	0.4600
20:33668219:A:AA	acceptor_gain	0.4600
20:33668246:ACT:A	acceptor_gain	0.4600
20:33667659:C:CT	donor_gain	0.4400
20:33667660:T:TT	donor_gain	0.4400
20:33666953:G:C	donor_gain	0.4300
20:33666986:C:CT	donor_gain	0.4300
20:33666987:T:TT	donor_gain	0.4300
20:33668215:C:CC	acceptor_gain	0.4100
20:33668311:G:T	acceptor_gain	0.3700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000357529 (20:33667458 G>A,T), RS1000765217 (20:33665958 C>T), RS1001427673 (20:33668303 T>C,G), RS1002024755 (20:33667301 C>T), RS1002843880 (20:33665891 T>C,G), RS1003723746 (20:33668887 T>C), RS1004164393 (20:33665935 T>G), RS1004213802 (20:33665713 T>C,G), RS1005963628 (20:33666816 G>A), RS1006208420 (20:33665138 T>C), RS1006881494 (20:33667691 C>A,G,T), RS1006924379 (20:33665429 C>A), RS1007636881 (20:33667913 G>A,C,T), RS1010449327 (20:33666410 C>A), RS1010456199 (20:33667662 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:266130

GenCC curated gene-disease

Mondo (1): glutathione synthetase deficiency with 5-oxoprolinuria (MONDO:0009947)

Orphanet (1): Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)

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

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)

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

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns