DCAKD

Summary

DCAKD (dephospho-CoA kinase domain containing, HGNC:26238) is a protein-coding gene on chromosome 17q21.31, encoding Dephospho-CoA kinase domain-containing protein (Q8WVC6).

Enables dephospho-CoA kinase activity. Predicted to be involved in coenzyme A biosynthetic process. Located in membrane.

Source: NCBI Gene 79877 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001288655

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26238
Approved symbol	DCAKD
Name	dephospho-CoA kinase domain containing
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22955
Ensembl gene	ENSG00000172992
Ensembl biotype	protein_coding
Entrez	79877

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 31 protein_coding, 8 nonsense_mediated_decay, 1 retained_intron

ENST00000310604, ENST00000342350, ENST00000452796, ENST00000588295, ENST00000588499, ENST00000592902, ENST00000593094, ENST00000614054, ENST00000651974, ENST00000684937, ENST00000684999, ENST00000685712, ENST00000685986, ENST00000686754, ENST00000687414, ENST00000687463, ENST00000687525, ENST00000687739, ENST00000687955, ENST00000688568, ENST00000688577, ENST00000688601, ENST00000688897, ENST00000689764, ENST00000690580, ENST00000691405, ENST00000691739, ENST00000692009, ENST00000692137, ENST00000692180, ENST00000692907, ENST00000693065, ENST00000693328, ENST00000871830, ENST00000871831, ENST00000871832, ENST00000911849, ENST00000955439, ENST00000955440, ENST00000955441

RefSeq mRNA: 5 — MANE Select: NM_001288655 NM_001128631, NM_001288654, NM_001288655, NM_001321326, NM_024819

CCDS: CCDS11493

Canonical transcript exons

ENST00000651974 — 5 exons

Exon	Start	End
ENSE00003471897	45034774	45034999
ENSE00003607571	45034187	45034390
ENSE00003844224	45051361	45051632
ENSE00003894954	45030092	45030179
ENSE00003895519	45023344	45024724

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 94.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.4861 / max 254.9073, expressed in 1805 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166492	14.3711	1699
166498	5.7017	1702
166496	4.5905	1582
166490	3.9065	1543
166495	1.2378	807
166491	0.9407	654
166489	0.8106	559
166493	0.5643	346
166497	0.3452	149
166494	0.0178	5

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.14	gold quality
ganglionic eminence	UBERON:0004023	94.05	gold quality
ventricular zone	UBERON:0003053	92.51	gold quality
right adrenal gland cortex	UBERON:0035827	92.13	gold quality
right adrenal gland	UBERON:0001233	92.09	gold quality
adenohypophysis	UBERON:0002196	91.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.85	gold quality
right uterine tube	UBERON:0001302	91.49	gold quality
left adrenal gland	UBERON:0001234	91.48	gold quality
left adrenal gland cortex	UBERON:0035825	91.35	gold quality
anterior cingulate cortex	UBERON:0009835	91.02	gold quality
cingulate cortex	UBERON:0003027	90.92	gold quality
right frontal lobe	UBERON:0002810	90.80	gold quality
pituitary gland	UBERON:0000007	90.78	gold quality
nucleus accumbens	UBERON:0001882	90.67	gold quality
caudate nucleus	UBERON:0001873	90.53	gold quality
spinal cord	UBERON:0002240	90.23	gold quality
amygdala	UBERON:0001876	90.18	gold quality
adrenal cortex	UBERON:0001235	89.88	gold quality
mucosa of stomach	UBERON:0001199	89.87	gold quality
apex of heart	UBERON:0002098	89.84	gold quality
prefrontal cortex	UBERON:0000451	89.73	gold quality
adrenal gland	UBERON:0002369	89.47	gold quality
right lobe of thyroid gland	UBERON:0001119	89.43	gold quality
ectocervix	UBERON:0012249	89.41	gold quality
stromal cell of endometrium	CL:0002255	89.35	gold quality
endocervix	UBERON:0000458	89.22	gold quality
right coronary artery	UBERON:0001625	89.16	gold quality
left lobe of thyroid gland	UBERON:0001120	89.12	gold quality
right ovary	UBERON:0002118	89.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting DCAKD, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-603	98.58	68.28	1603

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcakd	ENSDARG00000061638
mus_musculus	Dcakd	ENSMUSG00000020935
rattus_norvegicus	Dcakd	ENSRNOG00000021682
drosophila_melanogaster	Dpck	FBGN0037469
caenorhabditis_elegans		WBGENE00011500

Paralogs (1): COASY (ENSG00000068120)

Protein

Protein identifiers

Dephospho-CoA kinase domain-containing protein — Q8WVC6 (reviewed: Q8WVC6)

All UniProt accessions (5): Q8WVC6, A0A8I5KS02, A0A8I5KT67, A0A8J9G8Q5, K7ESP4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CoaE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WVC6-1	1	yes
Q8WVC6-2	2

RefSeq proteins (5): NP_001122103, NP_001275583, NP_001275584, NP_001308255, NP_079095 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001977	Depp_CoAkinase	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF01121

UniProt features (7 total): splice variant 2, chain 1, domain 1, binding site 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVC6-F1	94.62	0.94

Functional residue map

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

Ligand- & substrate-binding residues (1): 8–15

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196783	Coenzyme A biosynthesis

MSigDB gene sets: 153 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_COENZYME_A_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, TGANTCA_AP1_C, DOUGLAS_BMI1_TARGETS_DN, AACTTT_UNKNOWN

GO Biological Process (1): coenzyme A biosynthetic process (GO:0015937)

GO Molecular Function (3): dephospho-CoA kinase activity (GO:0004140), ATP binding (GO:0005524), nucleotide binding (GO:0000166)

GO Cellular Component (3): mitochondrial outer membrane (GO:0005741), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Vitamin B5 (pantothenate) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
coenzyme A metabolic process	1
sulfur compound biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate biosynthetic process	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
mitochondrial membrane	1
organelle outer membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAKD	NMT1	P30419	533
DCAKD	PPCS	Q9HAB8	502
DCAKD	RUNDC3A	Q59EK9	483
DCAKD	PPCDC	Q96CD2	463
DCAKD	ARFGEF2	Q9Y6D5	455
DCAKD	LRRC37A	A6NMS7	451
DCAKD	HEXIM2	Q96MH2	449
DCAKD	ACBD4	Q8NC06	448
DCAKD	SPATA32	Q96LK8	445
DCAKD	SEC14L6	B5MCN3	432
DCAKD	DARS2	Q6PI48	422
DCAKD	ATXN7L3	Q14CW9	411
DCAKD	TMUB2	Q71RG4	406
DCAKD	LRRC37A2	A6NM11	403
DCAKD	PLCD3	Q8N3E9	400

IntAct

128 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TMEM9B	DNAJC13	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
UST	GOLIM4	psi-mi:“MI:0914”(association)	0.530
rep	AGPS	psi-mi:“MI:0914”(association)	0.530
SLC30A2	RER1	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
UST	CANX	psi-mi:“MI:0914”(association)	0.530
CDK5RAP3	PLD2	psi-mi:“MI:0914”(association)	0.530
EVA1B	NRP1	psi-mi:“MI:0914”(association)	0.530
DCAKD	TYSND1	psi-mi:“MI:0915”(physical association)	0.400
FOXS1	DDX39A	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
TMPRSS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
APBB1	HERC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (122): DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DCAKD (Affinity Capture-MS)

ESM2 similar proteins: A4IH68, A5GFY8, B8A5W4, O34932, O74414, O95396, P23919, P34558, Q03941, Q0P4C4, Q13057, Q16774, Q17CA7, Q1JPA0, Q1LZ78, Q2JUC0, Q32PY9, Q3A3D2, Q3SZ73, Q3ZBS0, Q5KWC4, Q5R9W5, Q5T6J7, Q6AY55, Q7Q732, Q7ZV79, Q7ZW24, Q80UN9, Q8AWD2, Q8BHC4, Q8IQF1, Q8MIR4, Q8N5I4, Q8R0J8, Q8TB37, Q8TC12, Q8WVC6, Q91348, Q91WL8, Q94DR2

Diamond homologs: A4IH68, O34932, O74414, P0A6I9, P0A6J0, P0DA44, P0DA45, P34558, P56186, P56187, P58102, P58897, P63828, P63829, P63830, P63831, P63832, P63834, Q03941, Q0P4C4, Q21UD7, Q2FG49, Q2ILC5, Q2RHF1, Q2YTA2, Q31RL4, Q326D2, Q32JY9, Q39R83, Q3A6J1, Q3ABL6, Q3AVV9, Q3K029, Q3Z5Q6, Q3ZBS0, Q48UU5, Q49YB9, Q4JW20, Q4L730, Q4UXU8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1608 predictions. Top by Δscore:

Variant	Effect	Δscore
17:45024722:TCG:T	acceptor_gain	1.0000
17:45024723:CG:C	acceptor_gain	1.0000
17:45024723:CGC:C	acceptor_gain	1.0000
17:45030444:T:C	acceptor_gain	1.0000
17:45034185:A:AC	donor_gain	1.0000
17:45034185:AC:A	donor_gain	1.0000
17:45034185:ACC:A	donor_gain	1.0000
17:45034185:ACCC:A	donor_gain	1.0000
17:45034186:C:CC	donor_gain	1.0000
17:45034186:CC:C	donor_gain	1.0000
17:45034186:CCC:C	donor_gain	1.0000
17:45034186:CCCC:C	donor_gain	1.0000
17:45034186:CCCCG:C	donor_gain	1.0000
17:45034386:CACGA:C	acceptor_gain	1.0000
17:45034387:ACGA:A	acceptor_gain	1.0000
17:45034388:CGA:C	acceptor_gain	1.0000
17:45034388:CGAC:C	acceptor_gain	1.0000
17:45034389:GA:G	acceptor_gain	1.0000
17:45034391:C:A	acceptor_loss	1.0000
17:45034391:C:CC	acceptor_gain	1.0000
17:45034392:T:C	acceptor_loss	1.0000
17:45034393:G:C	acceptor_gain	1.0000
17:45024720:GGTCG:G	acceptor_gain	0.9900
17:45024721:GTCG:G	acceptor_gain	0.9900
17:45024725:C:CC	acceptor_gain	0.9900
17:45030085:CACT:C	donor_loss	0.9900
17:45030086:ACTC:A	donor_loss	0.9900
17:45030088:TCACC:T	donor_loss	0.9900
17:45030089:CACCA:C	donor_loss	0.9900
17:45030090:A:AT	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000027557 (17:45054204 G>T), RS1000177332 (17:45057794 TGAG>T), RS1000195666 (17:45049187 C>G), RS1000242322 (17:45056525 G>C,T), RS1000281128 (17:45037004 G>A), RS1000294772 (17:45056258 A>G), RS1000417478 (17:45057528 C>A), RS1000531972 (17:45028864 C>G,T), RS1000546152 (17:45049531 G>C), RS1000551268 (17:45033688 C>T), RS1000696524 (17:45051305 C>A,T), RS1000934739 (17:45044935 T>C), RS1001141448 (17:45051112 A>G,T), RS1001170504 (17:45043988 T>C), RS1001230444 (17:45038816 T>C)

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

9 associations (top):

Study	Trait	p-value
GCST004412_12	Craniofacial microsomia	9.000000e-06
GCST006979_822	Heel bone mineral density	5.000000e-14
GCST007576_242	Chronotype	4.000000e-10
GCST008916_39	Asthma	8.000000e-12
GCST010101_17	White matter hyperintensities	3.000000e-16
GCST010703_91	Brain morphology (MOSTest)	2.000000e-65
GCST011946_28	White matter hyperintensity volume	3.000000e-17
GCST011949_45	White matter hyperintensity volume (adjusted for hypertension)	4.000000e-18
GCST011952_3	White matter hyperintensity volume x hypertension interaction (2df)	6.000000e-18

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0008328	chronotype measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	2
Acetaminophen	increases expression, decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases expression	2
Arsenic	increases methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Valproic Acid	decreases expression, affects expression	2
bisphenol F	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	affects cotreatment, affects expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	increases expression	1
monobutyl phthalate	affects cotreatment, affects expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
2-ethyl-5-carboxypentyl phthalate	affects cotreatment, affects expression	1
di-n-butylphosphoric acid	affects expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects cotreatment, affects expression	1
mono-benzyl phthalate	affects cotreatment, affects expression	1
mono(2-ethyl-5-hydroxyhexyl) phthalate	affects cotreatment, affects expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
mono-isobutyl phthalate	affects cotreatment, affects expression	1
monoethyl phthalate	affects cotreatment, affects expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SK44	HAP1 DCAKD (-) 1	Cancer cell line	Male
CVCL_XN11	HAP1 DCAKD (-) 2	Cancer cell line	Male
CVCL_XN12	HAP1 DCAKD (-) 3	Cancer cell line	Male
CVCL_XN13	HAP1 DCAKD (-) 4	Cancer cell line	Male
CVCL_XN14	HAP1 DCAKD (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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