ACTMAP

Summary

ACTMAP (actin maturation protease, HGNC:24758) is a protein-coding gene on chromosome 19q13.2, encoding Actin maturation protease (Q5BKX5). Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation.

Enables cysteine-type aminopeptidase activity and initiator methionyl aminopeptidase activity. Involved in protein processing. Predicted to be located in cytoplasm.

Source: NCBI Gene 284325 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 12 total
• GTEx eGene: eQTL in 41 tissues, sQTL in 15 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.12 (unconstrained)
• MANE Select transcript: NM_198476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24758
Approved symbol	ACTMAP
Name	actin maturation protease
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ41131
Ensembl gene	ENSG00000188493
Ensembl biotype	protein_coding
OMIM	620093
Entrez	284325

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 19 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000378313

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 4, TSL 3: 3, TSL 5: 2

ENST00000378313, ENST00000469741, ENST00000470681, ENST00000594163, ENST00000596809, ENST00000596940, ENST00000597507, ENST00000598352, ENST00000598485, ENST00000600139, ENST00000862156, ENST00000862157, ENST00000862158, ENST00000982427, ENST00000982428, ENST00000982429, ENST00000982430, ENST00000982431, ENST00001059775, ENST00001059776, ENST00001059777, ENST00001059778, ENST00001138741

RefSeq mRNA: 6 — MANE Select: NM_198476 NM_001353805, NM_001353806, NM_001353807, NM_001353808, NM_001353809, NM_198476

CCDS: CCDS12564

Canonical transcript exons

ENST00000378313 — 6 exons

Exon	Start	End
ENSE00001510447	40743905	40743975
ENSE00001510449	40749481	40750477
ENSE00003053599	40744067	40744196
ENSE00003590458	40745130	40745198
ENSE00003635044	40740861	40742770
ENSE00003667061	40744559	40744683

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 91.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7499 / max 148.7888, expressed in 1800 samples.

Highest expression (Bgee): pancreatic ductal cell, primordial germ cell in gonad, hindlimb stylopod muscle, mucosa of transverse colon, buccal mucosa cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACTMAP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 41 tissues and its splicing (sQTL) in 15 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 56 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	eqtl	2.3e-44	-0.54	19:40746867:T:C
Whole Blood	eqtl	1.6e-29	+1.15	19:40750305:G:T
Artery Aorta	eqtl	1.9e-26	-0.55	19:40749595:C:G
Nerve Tibial	eqtl	2.9e-23	-0.44	19:40746867:T:C
Esophagus Mucosa	eqtl	7.8e-22	-0.39	19:40749595:C:G
Artery Tibial	eqtl	1.9e-17	-0.37	19:40749595:C:G
Skin Sun Exposed Lower leg	eqtl	2.2e-17	-0.30	19:40751911:C:A
Pituitary	eqtl	4.6e-16	-0.46	19:40746867:T:C
Prostate	eqtl	1.5e-15	-0.46	19:40746867:T:C
Colon Sigmoid	eqtl	8.3e-15	-0.35	19:40749595:C:G
Skin Not Sun Exposed Suprapubic	eqtl	2.0e-14	-0.33	19:40749595:C:G
Pancreas	eqtl	2.2e-14	-0.41	19:40738982:G:A
Breast Mammary Tissue	eqtl	3.9e-14	-0.36	19:40751911:C:A
Cells Cultured fibroblasts	eqtl	2.1e-13	+0.74	19:40750305:G:T
Esophagus Gastroesophageal Junction	eqtl	3.8e-12	-0.34	19:40746867:T:C
Brain Cerebellum	eqtl	1.1e-11	-0.52	19:40745275:T:G
Brain Cerebellar Hemisphere	eqtl	3.9e-11	-0.45	19:40745275:T:G
Heart Left Ventricle	eqtl	6.9e-11	+1.12	19:40750305:G:T
Adipose Subcutaneous	eqtl	8.7e-11	+0.27	19:40698229:G:A
Esophagus Muscularis	eqtl	4.5e-10	-0.30	19:40751911:C:A

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
181007	16.1699	1796
181009	0.4675	206
181008	0.1124	31

Top tissues by expression

showing 100 of 282 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	91.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.22	gold quality
mucosa of transverse colon	UBERON:0004991	85.99	gold quality
buccal mucosa cell	CL:0002336	84.47	gold quality
right lobe of liver	UBERON:0001114	84.33	gold quality
lower lobe of lung	UBERON:0008949	83.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.76	gold quality
oocyte	CL:0000023	83.71	gold quality
right adrenal gland	UBERON:0001233	83.35	gold quality
jejunal mucosa	UBERON:0000399	83.14	gold quality
right adrenal gland cortex	UBERON:0035827	83.00	gold quality
granulocyte	CL:0000094	82.56	gold quality
duodenum	UBERON:0002114	82.53	gold quality
vastus lateralis	UBERON:0001379	82.16	silver quality
small intestine Peyer’s patch	UBERON:0003454	82.07	gold quality
left adrenal gland	UBERON:0001234	81.95	gold quality
left adrenal gland cortex	UBERON:0035825	81.77	gold quality
gastrocnemius	UBERON:0001388	81.73	gold quality
small intestine	UBERON:0002108	81.70	gold quality
apex of heart	UBERON:0002098	81.57	gold quality
adrenal cortex	UBERON:0001235	81.56	gold quality
quadriceps femoris	UBERON:0001377	81.50	silver quality
stromal cell of endometrium	CL:0002255	81.31	gold quality
muscle of leg	UBERON:0001383	81.21	gold quality
right lung	UBERON:0002167	80.94	gold quality
upper lobe of lung	UBERON:0008948	80.75	gold quality
muscle organ	UBERON:0001630	80.73	gold quality
transverse colon	UBERON:0001157	80.62	gold quality
upper lobe of left lung	UBERON:0008952	80.52	gold quality
ileal mucosa	UBERON:0000331	80.43	gold quality
ventricular zone	UBERON:0003053	80.38	gold quality
secondary oocyte	CL:0000655	80.25	gold quality
right testis	UBERON:0004534	80.19	gold quality
testis	UBERON:0000473	80.05	gold quality
body of stomach	UBERON:0001161	80.02	gold quality
left testis	UBERON:0004533	79.95	gold quality
metanephros cortex	UBERON:0010533	79.91	gold quality
adrenal gland	UBERON:0002369	79.87	gold quality
diaphragm	UBERON:0001103	79.85	gold quality
spleen	UBERON:0002106	79.63	gold quality
jejunum	UBERON:0002115	79.56	gold quality
leukocyte	CL:0000738	79.30	gold quality
monocyte	CL:0000576	79.25	gold quality
body of pancreas	UBERON:0001150	79.20	gold quality
mononuclear cell	CL:0000842	79.19	gold quality
right lobe of thyroid gland	UBERON:0001119	79.18	gold quality
left lobe of thyroid gland	UBERON:0001120	79.05	gold quality
cortex of kidney	UBERON:0001225	78.92	gold quality
parotid gland	UBERON:0001831	78.92	gold quality
pigmented layer of retina	UBERON:0001782	78.84	gold quality
amniotic fluid	UBERON:0000173	78.81	gold quality
heart left ventricle	UBERON:0002084	78.63	gold quality
cranial nerve II	UBERON:0000941	78.62	gold quality
embryo	UBERON:0000922	78.56	gold quality
thyroid gland	UBERON:0002046	78.51	gold quality
bone marrow cell	CL:0002092	78.40	silver quality
ganglionic eminence	UBERON:0004023	78.35	gold quality
cardiac ventricle	UBERON:0002082	78.33	gold quality
tibialis anterior	UBERON:0001385	78.16	silver quality
intestine	UBERON:0000160	78.07	gold quality
rectum	UBERON:0001052	77.98	gold quality
mucosa of paranasal sinus	UBERON:0005030	77.82	silver quality
skeletal muscle tissue	UBERON:0001134	77.76	gold quality
stomach	UBERON:0000945	77.58	gold quality
mucosa of stomach	UBERON:0001199	77.58	gold quality
muscle tissue	UBERON:0002385	77.58	gold quality
colon	UBERON:0001155	77.57	gold quality
adult mammalian kidney	UBERON:0000082	77.54	gold quality
large intestine	UBERON:0000059	77.34	gold quality
muscle layer of sigmoid colon	UBERON:0035805	77.33	gold quality
endothelial cell	CL:0000115	77.25	silver quality
gall bladder	UBERON:0002110	77.13	gold quality
liver	UBERON:0002107	77.11	gold quality
vermiform appendix	UBERON:0001154	77.10	gold quality
metanephros	UBERON:0000081	77.08	gold quality
fundus of stomach	UBERON:0001160	77.06	gold quality
omental fat pad	UBERON:0010414	77.06	gold quality
lung	UBERON:0002048	77.03	gold quality
peritoneum	UBERON:0002358	77.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	76.90	gold quality
inferior olivary complex	UBERON:0002127	76.81	gold quality
right uterine tube	UBERON:0001302	76.79	gold quality
placenta	UBERON:0001987	76.79	gold quality
esophagus mucosa	UBERON:0002469	76.63	gold quality
subcutaneous adipose tissue	UBERON:0002190	76.52	gold quality
caecum	UBERON:0001153	76.50	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.49	gold quality
esophagus	UBERON:0001043	76.48	gold quality
lower esophagus	UBERON:0013473	76.46	gold quality
adipose tissue	UBERON:0001013	76.36	gold quality
blood	UBERON:0000178	76.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.31	gold quality
kidney	UBERON:0002113	76.27	gold quality
skin of leg	UBERON:0001511	76.21	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	76.17	gold quality
prostate gland	UBERON:0002367	75.99	gold quality
pancreas	UBERON:0001264	75.98	gold quality
heart	UBERON:0000948	75.96	gold quality
saliva-secreting gland	UBERON:0001044	75.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.89

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Spinal cord	tissue	15.6
Skeletal muscle	tissue	14.4	not detected
Corpus callosum	tissue	14.3
Medulla oblongata	tissue	13.6
Superior colliculi	tissue	13.5
Thalamus	tissue	12.6
Periaqueductal gray	tissue	12.6
Midbrain	tissue	12.3
Substantia nigra	tissue	12.3
Hippocampal formation	tissue	12.0
Pons	tissue	11.6
Hypothalamus	tissue	11.5
Cerebral cortex	tissue	10.1	low
Small intestine	tissue	10.1	medium
Somatosensory cortex	tissue	10.1
Motor cortex	tissue	10.0
Septum	tissue	10.0
Duodenum	tissue	9.9	medium
Choroid plexus	tissue	9.8
Ventral forebrain	tissue	9.8
Olfactory bulb	tissue	9.8
Tongue	tissue	9.6
Putamen	tissue	9.5
Temporal cortex	tissue	9.4
Occipital cortex	tissue	9.4
Frontal cortex	tissue	9.3
Amygdala	tissue	9.3
Cerebellum	tissue	9.3	not detected
Insular cortex	tissue	9.2
Prefrontal cortex	tissue	9.1
Basal ganglia	tissue	9.0	not detected
Retrosplenial cortex	tissue	8.9
Entorhinal cortex	tissue	8.8
Retrosplenial and cingulate cortex	tissue	8.4
Caudate putamen	tissue	8.2
Locus coeruleus	tissue	7.4
Hippocampus	tissue	7.4	not detected
Rectum	tissue	6.6	medium
Nucleus accumbens	tissue	6.5
Appendix	tissue	6.5	medium
Epididymis	tissue	6.1	medium
Gallbladder	tissue	5.8	low
Bone marrow	tissue	5.6	not detected
Tonsil	tissue	5.6	low
Lung	tissue	5.5	not detected
Spleen	tissue	5.5	low
Parathyroid gland	tissue	5.4	medium
Thyroid gland	tissue	5.3	medium
Skin 1	tissue	5.2	low
Lymph node	tissue	5.1	not detected
Thymus	tissue	5.1
Colon	tissue	5.0	medium
Pancreas	tissue	5.0	low
Stomach 1	tissue	4.9	medium
Retina	tissue	4.9
Testis	tissue	4.8	medium
Vagina	tissue	4.7
Pituitary gland	tissue	4.5
Placenta	tissue	4.5	low
Heart muscle	tissue	4.2	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Ventral spinal cord (15.6), Dorsal spinal cord (14.6), White matter (14.3), Area postrema (13.3), Parieto-temporal junction (white matter) (13.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 71 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628

Functional genomics

gnomAD constraint: pLI 3e-08, LOEUF 1.12, missense Z -0.437 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000378313 — one region, missense o/e 1.03.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	actmap	ENSDARG00000039513
mus_musculus	Actmap	ENSMUSG00000078786
rattus_norvegicus	Actmap	ENSRNOG00000037715
drosophila_melanogaster	CG33108	FBGN0053108
caenorhabditis_elegans	K07A1.3	WBGENE00010610

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:3041247) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 11 distinct phenotype terms.

Mouse phenotype (MP)	Records
muscle weakness	1
decreased heart weight	1
impaired skeletal muscle contractility	1
abnormal skeletal muscle fiber morphology	1
impaired glucose tolerance	1
centrally nucleated skeletal muscle fibers	1
enhanced contextual conditioning behavior	1
enhanced cued conditioning behavior	1
decreased grip strength	1
increased freezing behavior	1
abnormal actin cytoskeleton morphology	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
Bos taurus	A6QQD2	83.2%	Diamond
Xenopus tropicalis	B0BM95	52.2%	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
RAB4B-EGLN2	ncRNA	100529264
EGLN2	protein-coding	112398
RAB4B	protein-coding	53916
SNRPA	protein-coding	6626
MIA	protein-coding	8190
COQ8B	protein-coding	79934
ITPKC	protein-coding	80271
LTBP4	protein-coding	8425
NUMBL	protein-coding	9253
MIA-RAB4B	ncRNA	100529262

Protein

Protein identifiers

Actin maturation protease — Q5BKX5 (reviewed: Q5BKX5)

Alternative names: Actin aminopeptidase ACTMAP

All UniProt accessions (7): M0QXR4, M0R0A6, M0R2U9, M0R322, M0R368, Q5BKX5, Q6ZWG5

UniProt curated annotations — full annotation on UniProt →

Function. Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation. Cleaves N-terminal acetylated methionine of immature cytoplasmic beta- and gamma-actins ACTB and ACTG1 after translation. Cleaves N-terminal acetylated cysteine of muscle alpha-actins ACTA1, ACTC1 and ACTA2 after canonical removal of N-terminal methionine.

Subunit / interactions. Interacts (via N-terminus) with PFN2 isoforms IIa and IIb; the interactions may facilitate efficient cleavage of the acetylated N-terminus of immature actin. Interacts with PFN1.

Subcellular location. Cytoplasm.

Domain organisation. The N-terminal proline-rich disordered region contributes to the interaction with PFN2.

Similarity. Belongs to the ACTMAP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5BKX5-1	1	yes
Q5BKX5-2	2
Q5BKX5-3	3

RefSeq proteins (6): NP_001340734, NP_001340735, NP_001340736, NP_001340737, NP_001340738, NP_940878* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040043	ACTMAP	Family

Pfam: PF21646

Catalyzed reactions (Rhea)

• N-terminal N(alpha)-acetyl-L-methionyl-L-aspartyl-[protein] + H2O = N-terminal L-aspartyl-[protein] + N-acetyl-L-methionine (RHEA:74571)
• N-terminal N(alpha)-acetyl-L-methionyl-L-glutamyl-[protein] + H2O = N-terminal L-glutamyl-[protein] + N-acetyl-L-methionine (RHEA:74575)
• N-terminal N(alpha)-acetyl-L-cysteinyl-L-aspartyl-[protein] + H2O = N-terminal L-aspartyl-[protein] + N-acetyl-L-cysteine (RHEA:74579)
• N-terminal N(alpha)-acetyl-L-cysteinyl-L-glutamyl-[protein] + H2O = N-terminal L-glutamyl-[protein] + N-acetyl-L-cysteine (RHEA:74583)

UniProt features (12 total): compositionally biased region 3, region of interest 2, splice variant 2, chain 1, mutagenesis site 1, sequence conflict 1, active site 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BKX5-F1	83.63	0.60

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): intermediate filaments; centriolar satellite

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1)

Position	Role
132

Post-translational modifications (1)

Type	Positions
Phosphoserine	316

Mutagenesis-validated functional residues (1)

Position	Phenotype
132	catalytically inactive, disrupts n-terminal cleavage of immature actin.

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: 90 (showing top): GOBP_PROTEIN_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_PROTEOLYSIS, GARY_CD5_TARGETS_UP, GOMF_PEPTIDASE_ACTIVITY, GOMF_AMINOPEPTIDASE_ACTIVITY, GOMF_EXOPEPTIDASE_ACTIVITY, TCANNTGAY_SREBP1_01, GOBP_PROTEIN_PROCESSING, NFY_Q6_01, GOMF_CYSTEINE_TYPE_EXOPEPTIDASE_ACTIVITY, CEBPZ_TARGET_GENES

GO Biological Process (2): protein processing (GO:0016485), proteolysis (GO:0006508)

GO Molecular Function (5): initiator methionyl aminopeptidase activity (GO:0004239), cysteine-type aminopeptidase activity (GO:0070005), aminopeptidase activity (GO:0004177), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

11 GO namespaces:

Category	Terms
aminopeptidase activity	2
proteolysis	1
protein maturation	1
protein metabolic process	1
cysteine-type exopeptidase activity	1
exopeptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
protein processing	BP	direct assay
cysteine-type aminopeptidase activity	MF	direct assay
initiator methionyl aminopeptidase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 762 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTMAP	TMEM41B	Q5BJD5	542
ACTMAP	KCTD14	Q9BQ13	524
ACTMAP	SMIM3	Q9BZL3	522
ACTMAP	SPRED3	Q2MJR0	514
ACTMAP	USPL1	Q5W0Q7	482
ACTMAP	MPHOSPH9	Q99550	465
ACTMAP	THOC2	Q8NI27	461
ACTMAP	ATXN10	Q9UBB4	459
ACTMAP	VPS16	Q9H269	459
ACTMAP	OR51G1	Q8NGK1	441
ACTMAP	CLCN7	P51798	440
ACTMAP	C19orf47	Q8N9M1	429
ACTMAP	OR5D16	Q8NGK9	428
ACTMAP	C4orf17	Q53FE4	419
ACTMAP	RAB4B	P22750	409

IntAct

Human interaction partners of ACTMAP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
XIAP	association	0.350	2

Disease & clinical

Genetic variants

Variant evidence for ACTMAP: 12 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	0
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 631):

Position(s)	Effect	Δscore	Sites
19:40742771–40742772	acceptor_loss	1.0000	6
19:40743988	acceptor_gain	1.0000
19:40743903–40743904	donor_loss	0.9900	5
19:40743910	donor_loss	0.9900
19:40743913–40743914	donor_loss	0.9900	6
19:40743987	acceptor_gain	0.9900	2
19:40744557–40744558	donor_loss	0.9900	5
19:40744684–40744685	acceptor_loss	0.9900	4
19:40745012	donor_gain	0.9900
19:40749479–40749480	donor_loss	0.9900	5

AlphaMissense

598 missense substitutions predicted likely pathogenic (of 2,223 scored), across 157 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M139	9	0.868	0.971
D218	8	0.977	0.989
H234	8	0.961	0.993
F171	8	0.954	0.993
D220	8	0.915	0.978
S308	8	0.900	0.994
S294	8	0.859	0.977
H223	8	0.855	0.964
D97	8	0.718	0.901
W235	7	0.983	0.996
W300	7	0.981	0.995
W115	7	0.968	0.997
C132	7	0.957	0.979
E169	7	0.956	0.988
N309	7	0.919	0.992
F109	7	0.902	0.963
Q127	7	0.845	0.990
N222	7	0.838	0.963
F263	7	0.805	0.949
D256	7	0.734	0.819

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (validation)	unfavorable	1.55e-05

Disease associations

OMIM: gene MIM:620093 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST009921_7	Carotid intima media thickness (mean)	1e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
mancozeb	decreases expression	1
polyhexamethyleneguanidine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Diazinon	increases methylation	1
Estradiol	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Thimerosal	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

52 trials:

NCT	Phase	Status	Title
NCT05474924	Phase 4	UNKNOWN	The Role of Budesonide Intrapolyp Injection in CRSwNP
NCT00673608	Phase 4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	Phase 3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	Phase 2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	Phase 2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	Phase 2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	Phase 2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	Phase 2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	Phase 2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	Phase 2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	Phase 2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	Phase 2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	Phase 2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	Phase 1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	Phase 1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02997020	Not specified	ACTIVE_NOT_RECRUITING	Ivacaftor for Acquired CFTR Dysfunction in Chronic Rhinosinusitis (EDSPD Protocol)
NCT03379701	Not specified	COMPLETED	Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Chronic Sinusitis Subtypes by Respiratory Samples
NCT04868695	Not specified	UNKNOWN	Subjective and Objective Outcome of ESS in CRSwNP
NCT01529060	Phase 2/3	COMPLETED	Phenylbutyrate Therapy for Maple Syrup Urine Disease
NCT03655223	Not specified	ACTIVE_NOT_RECRUITING	Early Check: Expanded Screening in Newborns
NCT04248062	Not specified	COMPLETED	Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT04602325	Not specified	RECRUITING	Systemic Biomarkers of Brain Injury From Hyperammonemia
NCT04828863	Not specified	COMPLETED	Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
NCT05051657	Not specified	COMPLETED	Evaluation of the Express Plus Range
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT06298292	Not specified	UNKNOWN	Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
NCT06581991	Not specified	NOT_YET_RECRUITING	Liquid Valine and Isoleucine in Maple Syrup Urine Disease
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool
NCT00176852	Phase 2/3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	Phase 2/3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	Phase 1/2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	Phase 1/2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	Phase 1/2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	Phase 1/2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	Phase 1/2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	Phase 1/2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	Phase 1/2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	Phase 1/2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	Phase 1/2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	Phase 1/2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)