DCANP1

gene
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Also known as DCNP1

Summary

DCANP1 (dendritic cell associated nuclear protein 1, HGNC:24459) is a protein-coding gene on chromosome 5q31.1, encoding Dendritic cell nuclear protein 1 (Q8TF63). Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter.

This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans.

Source: NCBI Gene 140947 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 45 total
  • MANE Select transcript: NM_130848

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24459
Approved symbolDCANP1
Namedendritic cell associated nuclear protein 1
Location5q31.1
Locus typegene with protein product
StatusApproved
AliasesDCNP1
Ensembl geneENSG00000251380
Ensembl biotypeprotein_coding
OMIM609710
Entrez140947

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000503143

RefSeq mRNA: 1 — MANE Select: NM_130848 NM_130848

CCDS: CCDS4186

Canonical transcript exons

ENST00000503143 — 1 exons

ExonStartEnd
ENSE00002043461135444214135447348

Expression profiles

Bgee: expression breadth broad, 37 present calls, max score 88.75.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.75gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099177.58silver quality
granulocyteCL:000009462.92gold quality
mucosa of transverse colonUBERON:000499157.10gold quality
bone marrow cellCL:000209250.60gold quality
lymph nodeUBERON:000002949.28gold quality
bone marrowUBERON:000237146.34silver quality
leukocyteCL:000073846.01gold quality
monocyteCL:000057645.59gold quality
spleenUBERON:000210645.20gold quality
colonic epitheliumUBERON:000039741.28gold quality
bloodUBERON:000017840.34gold quality
ventricular zoneUBERON:000305339.92gold quality
skeletal muscle tissueUBERON:000113439.40gold quality
gall bladderUBERON:000211038.07gold quality
small intestine Peyer’s patchUBERON:000345437.64gold quality
muscle tissueUBERON:000238537.62gold quality
ganglionic eminenceUBERON:000402337.18gold quality
lower esophagus mucosaUBERON:003583437.04gold quality
small intestineUBERON:000210836.79gold quality
cortical plateUBERON:000534336.47gold quality
prefrontal cortexUBERON:000045135.81gold quality
hindlimb stylopod muscleUBERON:000425235.21gold quality
rectumUBERON:000105234.80silver quality
placentaUBERON:000198734.63gold quality
skin of legUBERON:000151134.40gold quality
zone of skinUBERON:000001434.25gold quality
skin of abdomenUBERON:000141633.56silver quality
transverse colonUBERON:000115733.33gold quality
esophagus mucosaUBERON:000246933.32gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting DCANP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-432-3P100.0067.86705
HSA-MIR-12118100.0065.881270
HSA-MIR-607799.9968.042299
HSA-MIR-6891-5P99.9866.531372
HSA-MIR-3173-3P99.9866.491217
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-449299.8768.253611
HSA-MIR-391999.8769.452489
HSA-MIR-3180-5P99.8269.122422
HSA-MIR-548AG99.7769.251492
HSA-MIR-430699.7270.503630
HSA-MIR-548M99.7068.871749
HSA-MIR-548AI99.6969.241494
HSA-MIR-548BA99.6969.141514
HSA-MIR-570-5P99.6969.241494
HSA-MIR-452799.6667.43714
HSA-MIR-56799.6368.571219
HSA-MIR-451699.6167.783390
HSA-MIR-7152-5P99.6069.332094
HSA-MIR-24-3P99.5969.971934
HSA-MIR-76299.5866.611994
HSA-MIR-4687-3P99.4866.41968
HSA-MIR-449899.4767.422360
HSA-MIR-122B-5P99.4670.811457
HSA-MIR-6722-3P99.4567.621919
HSA-MIR-431899.3866.941505
HSA-MIR-520A-5P99.3566.721632
HSA-MIR-525-5P99.3566.851615

Literature-anchored findings (GeneRIF, showing 6)

  • molecular cloning and immunocytochemical analysis (PMID:11798177)
  • Marker rs12520799, in dendritic cell nuclear protein 1 on chromosome 5, yielded a significant association with lifetime major depression. (PMID:16189510)
  • the genetic polymorphism of DCNP1 may influence production of specific IgE by altering DC (Dendritic Cells)functions in the mite allergen presenting and/or processing. (PMID:17460725)
  • We propose that full-length dendritic cell nucleus protein-1 may play a role in the pathogenesis of depressive disorders by enhancing corticotropin-releasing hormone expression in the hypothalamic paraventricular nucleus. (PMID:20693543)
  • In the Han Chinese population, common DCNP1 polymorphisms are unlikely to be important in the genetic susceptibility to MDD. (PMID:23619526)
  • Our study reveals a connection between the major depression candidate protein DCNP1, circadian system and melatonin biosynthesis, which may contribute to the pathogenesis of depression. (PMID:29219947)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Dendritic cell nuclear protein 1Q8TF63 (reviewed: Q8TF63)

Alternative names: Dendritic cell nuclear protein-1, Dendritic cell-associated nuclear protein

All UniProt accessions (1): Q8TF63

UniProt curated annotations — full annotation on UniProt →

Function. Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in neurons of the paraventricular nucleus, thalamus and occipital cortex and in glial cells (at protein level). Predominantly expressed in dendritic cells. Detected in brain and skeletal muscle. Highly expressed in mature dendritic cells and at a lower level in immature dendritic cells. Expressed in paraventricular nucleus, supraoptic nucleus and nucleus basalis of Meynert. Strongly expressed in paraventricular nucleus of depressed patients compared to controls. Not expressed in monocytes and B-cells.

RefSeq proteins (1): NP_570900* (*=MANE)

Domains & families (InterPro)

UniProt features (10 total): compositionally biased region 4, region of interest 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TF63-F136.600.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): GOBP_DIGESTION, GOBP_COGNITION, GOBP_AXIS_SPECIFICATION, GOBP_BEHAVIOR, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MODULE_255, GOBP_EMBRYONIC_AXIS_SPECIFICATION, MODULE_317, GOBP_CRANIAL_NERVE_MORPHOGENESIS, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOBP_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT

GO Biological Process (19): thorax and anterior abdomen determination (GO:0007356), trigeminal nerve development (GO:0021559), vestibulocochlear nerve formation (GO:0021650), peristalsis (GO:0030432), auditory behavior (GO:0031223), genitalia morphogenesis (GO:0035112), inner ear morphogenesis (GO:0042472), regulation of muscle organ development (GO:0048634), genitalia development (GO:0048806), inner ear development (GO:0048839), neuromuscular process controlling balance (GO:0050885), mastication (GO:0071626), cochlea development (GO:0090102), cochlea morphogenesis (GO:0090103), craniofacial suture morphogenesis (GO:0097094), learned vocalization behavior (GO:0098583), negative regulation of relaxation of muscle (GO:1901078), negative regulation of saliva secretion (GO:1905747), hard palate morphogenesis (GO:1905748)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
embryonic morphogenesis2
inner ear development2
anatomical structure development2
anatomical structure morphogenesis2
cellular anatomical structure2
zygotic determination of anterior/posterior axis, embryo1
anterior/posterior pattern specification1
cranial nerve development1
cranial nerve formation1
vestibulocochlear nerve morphogenesis1
phasic smooth muscle contraction1
mechanosensory behavior1
response to auditory stimulus1
developmental process involved in reproduction1
animal organ morphogenesis1
genitalia development1
ear morphogenesis1
muscle organ development1
regulation of developmental process1
sex differentiation1
animal organ development1
reproductive structure development1
ear development1
musculoskeletal movement1
neuromuscular process1
digestive system process1
inner ear morphogenesis1
cochlea development1
bone morphogenesis1
cranial skeletal system development1
vocalization behavior1
learned vocalization behavior or vocal learning1
negative regulation of multicellular organismal process1
relaxation of muscle1
regulation of relaxation of muscle1
saliva secretion1
regulation of saliva secretion1
negative regulation of secretion1
negative regulation of digestive system process1
nucleic acid binding1

Protein interactions and networks

STRING

130 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DCANP1CD68P34810766
DCANP1ERICH4A6NGS2511
DCANP1TMED6Q8WW62348
DCANP1PGBD5Q8N414348
DCANP1TMPRSS9Q7Z410348
DCANP1SLC38A10Q9HBR0306
DCANP1TBC1D16Q8TBP0305
DCANP1CCDC3Q9BQI4305
DCANP1MRPS18BQ9Y676290
DCANP1NPYP01303273
DCANP1TIFABQ6ZNK6271
DCANP1MYH15Q9Y2K3265
DCANP1LTV1Q96GA3257
DCANP1TREML4Q6UXN2255
DCANP1INPP5AQ14642248

IntAct

22 interactions, top by confidence:

ABTypeScore
DCANP1MDFIpsi-mi:“MI:0915”(physical association)0.780
MDFIDCANP1psi-mi:“MI:0915”(physical association)0.780
BOLLDCANP1psi-mi:“MI:0915”(physical association)0.560
DCANP1KRTAP3-3psi-mi:“MI:0915”(physical association)0.560
DCANP1DDX3Xpsi-mi:“MI:0915”(physical association)0.560
DCANP1psi-mi:“MI:0915”(physical association)0.560
DCANP1IDEpsi-mi:“MI:0914”(association)0.350
DCANP1BOLLpsi-mi:“MI:0915”(physical association)0.000
DCANP1MDFIpsi-mi:“MI:0915”(physical association)0.000
DCANP1KRTAP3-3psi-mi:“MI:0915”(physical association)0.000

BioGRID (19): DCANP1 (Two-hybrid), DCANP1 (Two-hybrid), DCANP1 (Two-hybrid), DCANP1 (Two-hybrid), FREM2 (Affinity Capture-MS), FAT1 (Affinity Capture-MS), FAT3 (Affinity Capture-MS), PCDHGA11 (Affinity Capture-MS), FAT4 (Affinity Capture-MS), CELSR2 (Affinity Capture-MS), CELSR3 (Affinity Capture-MS), PCDH20 (Affinity Capture-MS), IDE (Affinity Capture-MS), FZD3 (Affinity Capture-MS), CELSR1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUT2, A0A3Q1LFG5, A1L4Q6, A2RUQ5, A8MQB3, A8MU10, A8MZ25, B1ANY3, C9JC47, P0C7V0, P0C864, P0CG42, P0CG43, P0DP75, P0DPA3, P0DXC1, P20975, P20977, P24026, P59020, P59021, P87743, Q06250, Q0IIN9, Q52M75, Q5SR53, Q5T036, Q5W150, Q67923, Q6ZUF6, Q6ZUU3, Q71F78, Q7Z4H9, Q8IYB0, Q8JMY5, Q8JMZ5, Q8JN06, Q8N2X6, Q8N5N4, Q8N9X3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance39
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

407 predictions. Top by Δscore:

VariantEffectΔscore
5:135445862:T:Cacceptor_gain0.9600
5:135444512:C:CCacceptor_gain0.9200
5:135444510:TG:Tacceptor_gain0.9000
5:135446754:T:TAdonor_gain0.8800
5:135444812:T:Cacceptor_gain0.8500
5:135446623:AACTG:Adonor_gain0.8500
5:135444695:T:TCacceptor_gain0.8400
5:135446444:ACCCG:Adonor_gain0.8300
5:135446445:CCCGC:Cdonor_gain0.8300
5:135446624:A:Cdonor_gain0.8200
5:135445862:T:TCacceptor_gain0.8100
5:135447099:C:CTacceptor_gain0.7900
5:135444508:GATGC:Gacceptor_loss0.7600
5:135444509:ATG:Aacceptor_loss0.7600
5:135444511:GCTGA:Gacceptor_loss0.7600
5:135444512:CTGAG:Cacceptor_loss0.7600
5:135444513:T:Cacceptor_loss0.7600
5:135445862:T:TGacceptor_gain0.7600
5:135444514:G:Cacceptor_loss0.7400
5:135444884:ACT:Adonor_gain0.7400
5:135444885:CTC:Cdonor_gain0.7400
5:135444507:GGATG:Gacceptor_gain0.7300
5:135444508:GATG:Gacceptor_gain0.7200
5:135445708:T:TAdonor_gain0.7200
5:135444692:CGGT:Cacceptor_gain0.7100
5:135444695:T:Cacceptor_gain0.7000
5:135445007:C:CTacceptor_gain0.7000
5:135445861:CT:Cacceptor_gain0.7000
5:135446448:G:Adonor_gain0.6700
5:135446445:CCCG:Cdonor_gain0.6600

AlphaMissense

1559 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:135446509:G:CF200L0.942
5:135446509:G:TF200L0.942
5:135446511:A:GF200L0.942
5:135446701:G:CF136L0.928
5:135446701:G:TF136L0.928
5:135446703:A:GF136L0.928
5:135446632:A:CF159L0.925
5:135446632:A:TF159L0.925
5:135446634:A:GF159L0.925
5:135446845:G:CF88L0.893
5:135446845:G:TF88L0.893
5:135446847:A:GF88L0.893
5:135446629:C:AK160N0.886
5:135446629:C:GK160N0.886
5:135446686:G:CF141L0.862
5:135446686:G:TF141L0.862
5:135446688:A:GF141L0.862
5:135446500:C:AW203C0.831
5:135446500:C:GW203C0.831
5:135446502:A:GW203R0.821
5:135446502:A:TW203R0.821
5:135446702:A:GF136S0.742
5:135446630:T:AK160M0.739
5:135446407:G:CS234R0.708
5:135446407:G:TS234R0.708
5:135446409:T:GS234R0.708
5:135446506:C:AR201S0.708
5:135446506:C:GR201S0.708
5:135446587:A:CS174R0.691
5:135446587:A:TS174R0.691

dbSNP variants (sampled 300 via entrez): RS1000476115 (5:135447971 C>G), RS1000516626 (5:135446157 AC>A), RS1001559869 (5:135445565 C>A,G,T), RS1001893830 (5:135444594 C>G,T), RS1002367668 (5:135449199 C>A,T), RS1002412686 (5:135449003 C>T), RS1002580919 (5:135446638 T>A,C,G), RS1004116240 (5:135444308 A>C,G), RS1004961209 (5:135449185 C>T), RS1005400636 (5:135449034 A>G,T), RS1005743564 (5:135445362 T>C), RS1005875475 (5:135448476 T>G), RS10059928 (5:135445014 G>C,T), RS1006000519 (5:135448063 T>C), RS1006028332 (5:135444083 T>C)

Disease associations

OMIM: gene MIM:609710 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST007192_1Coronary artery aneurysm in Kawasaki disease2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation1
Irondecreases expression1
Nickelincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Antirheumatic Agentsdecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): coronary aneurysm