CLEC1A

gene
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Also known as CLEC1CLEC-1MGC34328

Summary

CLEC1A (C-type lectin domain family 1 member A, HGNC:24355) is a protein-coding gene on chromosome 12p13.2, encoding C-type lectin domain family 1 member A (Q8NC01).

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 51267 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 43 total
  • MANE Select transcript: NM_016511

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24355
Approved symbolCLEC1A
NameC-type lectin domain family 1 member A
Location12p13.2
Locus typegene with protein product
StatusApproved
AliasesCLEC1, CLEC-1, MGC34328
Ensembl geneENSG00000150048
Ensembl biotypeprotein_coding
OMIM606782
Entrez51267

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

ENST00000315330, ENST00000414501, ENST00000420265, ENST00000457018, ENST00000544104, ENST00000902292

RefSeq mRNA: 5 — MANE Select: NM_016511 NM_001297748, NM_001297749, NM_001297750, NM_001297751, NM_016511

CCDS: CCDS73443, CCDS76528, CCDS8612

Canonical transcript exons

ENST00000315330 — 6 exons

ExonStartEnd
ENSE000009935611007329310073411
ENSE000009935621007550410075655
ENSE000009935631008123710081413
ENSE000011799411006955410071513
ENSE000012347091009880810098985
ENSE000034995981008912410089222

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 88.56.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7332 / max 96.9353, expressed in 338 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1294660.9301278
1294650.4400188
1294670.2874139
1294680.050717
1294640.02517

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
placentaUBERON:000198788.56gold quality
upper lobe of left lungUBERON:000895286.82gold quality
upper lobe of lungUBERON:000894886.09gold quality
right lungUBERON:000216785.66gold quality
omental fat padUBERON:001041484.64gold quality
peritoneumUBERON:000235884.52gold quality
subcutaneous adipose tissueUBERON:000219083.73gold quality
adipose tissue of abdominal regionUBERON:000780883.60gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.30gold quality
tibial nerveUBERON:000132381.59gold quality
lungUBERON:000204880.92gold quality
body of uterusUBERON:000985380.78gold quality
endocervixUBERON:000045880.58gold quality
adipose tissueUBERON:000101379.92gold quality
ectocervixUBERON:001224979.31gold quality
left uterine tubeUBERON:000130379.18gold quality
mucosa of stomachUBERON:000119978.74gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099178.69gold quality
connective tissueUBERON:000238478.44gold quality
smooth muscle tissueUBERON:000113577.27gold quality
left lobe of thyroid glandUBERON:000112076.99gold quality
gall bladderUBERON:000211076.52gold quality
apex of heartUBERON:000209876.47gold quality
lower esophagus muscularis layerUBERON:003583376.35gold quality
lower esophagusUBERON:001347376.33gold quality
esophagogastric junction muscularis propriaUBERON:003584176.31gold quality
thyroid glandUBERON:000204676.17gold quality
right ovaryUBERON:000211876.05gold quality
right atrium auricular regionUBERON:000663175.91gold quality
right lobe of thyroid glandUBERON:000111975.81gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-6701yes11.17
E-ANND-3yes9.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting CLEC1A, 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-4795-3P100.0074.624024
HSA-MIR-126-5P100.0072.713180
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-3689D100.0066.141181
HSA-MIR-3134100.0066.43777
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-391099.9571.132227
HSA-MIR-651-3P99.9473.485177
HSA-MIR-314399.9371.963104
HSA-MIR-205-3P99.9269.923165
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-627-3P99.9071.423316
HSA-MIR-808799.9069.551351
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-391999.8769.452489
HSA-MIR-1211999.8768.351653
HSA-MIR-6857-5P99.8765.32985
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-3663-3P99.8470.39798

Literature-anchored findings (GeneRIF, showing 3)

  • Expression of CLEC-1 mRNA was detected in myeloid cells as well as in endothelial cells. CLEC-1 protein displayed N-linked glycosylation and formed dimers. (PMID:22117783)
  • Histidine-Rich Glycoprotein Stimulates Human Neutrophil Phagocytosis and Prolongs Survival through CLEC1A. (PMID:33452125)
  • CLEC-1 Acts as a Negative Regulator of Dectin-1 Induced Host Inflammatory Response Signature in Aspergillus fumigatus Keratitis. (PMID:34043748)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_reriosi:ch211-193e13.5ENSDARG00000052656
danio_rerioENSDARG00000074732
danio_reriosi:dkey-26c10.5ENSDARG00000088023
danio_reriosi:ch211-170d8.8ENSDARG00000090945
mus_musculusClec1aENSMUSG00000033082
rattus_norvegicusClec1aENSRNOG00000060460
drosophila_melanogasterrgnFBGN0261258
caenorhabditis_elegansWBGENE00009156
caenorhabditis_elegansWBGENE00013008

Paralogs (23): CLEC2D (ENSG00000069493), CD69 (ENSG00000110848), CLEC2B (ENSG00000110852), KLRB1 (ENSG00000111796), KLRD1 (ENSG00000134539), KLRC1 (ENSG00000134545), KLRG1 (ENSG00000139187), KLRF1 (ENSG00000150045), CLEC1B (ENSG00000165682), CLEC7A (ENSG00000172243), CLEC12A (ENSG00000172322), OLR1 (ENSG00000173391), KLRC4 (ENSG00000183542), CLEC2A (ENSG00000188393), KLRG2 (ENSG00000188883), CLEC9A (ENSG00000197992), KLRC2 (ENSG00000205809), KLRC3 (ENSG00000205810), KLRK1 (ENSG00000213809), CLEC2L (ENSG00000236279), CLEC12B (ENSG00000256660), KLRF2 (ENSG00000256797), CLEC5A (ENSG00000258227)

Protein

Protein identifiers

C-type lectin domain family 1 member AQ8NC01 (reviewed: Q8NC01)

Alternative names: C-type lectin-like receptor 1

All UniProt accessions (5): Q8NC01, E7ESV9, E9PFB4, F5H038, F8WCT4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed preferentially in dendritic cells.

RefSeq proteins (5): NP_001284677, NP_001284678, NP_001284679, NP_001284680, NP_057595* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001304C-type_lectin-likeDomain
IPR016186C-type_lectin-like/link_sfHomologous_superfamily
IPR016187CTDL_foldHomologous_superfamily
IPR033992NKR-like_CTLDDomain
IPR052309C-type_Lectin_Domain_Fam1Family

Pfam: PF00059

UniProt features (14 total): topological domain 2, disulfide bond 2, compositionally biased region 2, glycosylation site 2, chain 1, sequence variant 1, sequence conflict 1, transmembrane region 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NC01-F184.510.68

Functional residue map

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

Disulfide bonds (2): 165–257, 236–249

Glycosylation sites (2): 95, 169

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): TAATAAT_MIR126, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, CUI_TCF21_TARGETS_2_DN, BOQUEST_STEM_CELL_DN, TGGAAA_NFAT_Q4_01, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, HATADA_METHYLATED_IN_LUNG_CANCER_UP, P53_DN.V2_UP, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_DN, GSE13522_WT_VS_IFNG_KO_SKIN_UP, MIR4795_3P, MIR23A_3P_MIR23B_3P, MIR23C, MIR126_5P, MIR3919

GO Biological Process (2): signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166)

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding2
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
signal transduction1
signaling receptor activity1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

650 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CLEC1ACLEC4EQ9ULY5729
CLEC1AREG1BP48304711
CLEC1AREG1AP05451650
CLEC1AKLRC4O43908634
CLEC1ACLEC4GQ6UXB4595
CLEC1ACLEC4DQ8WXI8578
CLEC1AASGR1P07306550
CLEC1APDPNQ86YL7524
CLEC1ACLEC6AQ6EIG7449
CLEC1ANLRP11P59045447
CLEC1ACLECL1Q8IZS7420
CLEC1ACLEC2DQ9UHP7403
CLEC1APGLYRP1O75594382
CLEC1ACD209Q9NNX6350
CLEC1ASCGB1D2O95969341

IntAct

42 interactions, top by confidence:

ABTypeScore
CLEC1ALRRC4Cpsi-mi:“MI:0915”(physical association)0.560
STX1ACLEC1Apsi-mi:“MI:0915”(physical association)0.560
TRAM1L1CLEC1Apsi-mi:“MI:0915”(physical association)0.560
CLEC12ACLEC1Apsi-mi:“MI:0915”(physical association)0.560
CLEC1AGPR152psi-mi:“MI:0915”(physical association)0.560
CLEC1ACERS4psi-mi:“MI:0915”(physical association)0.560
LRRC25CLEC1Apsi-mi:“MI:0915”(physical association)0.560
FFAR2CLEC1Apsi-mi:“MI:0915”(physical association)0.560
RNF19BCLEC1Apsi-mi:“MI:0915”(physical association)0.560
CLEC1AFNDC9psi-mi:“MI:0915”(physical association)0.560
CLEC1AMRPS18Bpsi-mi:“MI:0915”(physical association)0.560
CLEC1AGPX8psi-mi:“MI:0915”(physical association)0.560
GJA8CLEC1Apsi-mi:“MI:0915”(physical association)0.560
CLEC1ACCPG1psi-mi:“MI:0915”(physical association)0.400
CREB3CLEC1Apsi-mi:“MI:0915”(physical association)0.370
TRAM1L1CLEC1Apsi-mi:“MI:0915”(physical association)0.000
CLEC1ASTX1Apsi-mi:“MI:0915”(physical association)0.000
CLEC1ACLEC12Apsi-mi:“MI:0915”(physical association)0.000
CLEC1ACERS4psi-mi:“MI:0915”(physical association)0.000
CLEC1ALRRC25psi-mi:“MI:0915”(physical association)0.000
CLEC1AFFAR2psi-mi:“MI:0915”(physical association)0.000
CLEC1ARNF19Bpsi-mi:“MI:0915”(physical association)0.000
CLEC1AGJA8psi-mi:“MI:0915”(physical association)0.000
CLEC1AGPR152psi-mi:“MI:0915”(physical association)0.000

BioGRID (18): CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CLEC1A (Two-hybrid), CLEC1A (Synthetic Lethality), CLEC1A (Two-hybrid), CLEC1A (Two-hybrid), CLEC1A (Two-hybrid), CLEC1A (Two-hybrid), CLEC1A (Two-hybrid), CLEC1A (Two-hybrid), GPX8 (Two-hybrid), CLEC12A (Two-hybrid), FNDC9 (Two-hybrid), TRAM1L1 (Two-hybrid), LRRC25 (Two-hybrid)

ESM2 similar proteins: A4KWA1, D3W0D1, D4AD02, O54709, O70215, O88713, P20937, P26715, P27471, P27811, P27812, P27814, Q07108, Q0ZUP0, Q0ZUP1, Q12918, Q149M0, Q2HXU8, Q2NL33, Q5NKN2, Q5NKN4, Q5QGZ9, Q60652, Q60654, Q63378, Q64335, Q67EQ0, Q6QLQ4, Q6UXN8, Q80XD9, Q80ZC8, Q8BRU4, Q8BWY2, Q8C1T8, Q8CJC7, Q8MI05, Q8NC01, Q8VD98, Q8VI21, Q95MI5

Diamond homologs: A3FM55, B4XSY4, B4XSZ2, B4XSZ3, B4XSZ4, B4XSZ5, B4XSZ6, B4XSZ7, B4XSZ9, D4AD02, O35778, O54707, O54709, O70156, O70215, P07897, P08290, P10716, P13608, P16112, P24721, P26715, P26717, P26718, P27812, P27814, P34927, P49300, P60883, P61252, P78380, P79391, P81112, P81397, Q09GK0, Q0VCS6, Q12918, Q13241, Q149M0, Q28670

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance33
Likely benign9
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1256 predictions. Top by Δscore:

VariantEffectΔscore
12:10073291:A:ACdonor_gain1.0000
12:10073292:C:CCdonor_gain1.0000
12:10073292:CAGTT:Cdonor_gain1.0000
12:10071515:T:Cacceptor_gain0.9900
12:10089122:A:ACdonor_gain0.9900
12:10089123:C:CCdonor_gain0.9900
12:10089123:CA:Cdonor_gain0.9900
12:10098803:GGTAC:Gdonor_loss0.9900
12:10098804:GTA:Gdonor_loss0.9900
12:10098805:TACCT:Tdonor_loss0.9900
12:10098806:A:ATdonor_loss0.9900
12:10098807:CCTGT:Cdonor_loss0.9900
12:10071514:C:Aacceptor_loss0.9800
12:10071515:T:Aacceptor_loss0.9800
12:10073292:CA:Cdonor_gain0.9800
12:10075657:T:Cacceptor_gain0.9700
12:10075657:T:TCacceptor_gain0.9700
12:10089223:C:CCacceptor_gain0.9700
12:10098754:T:TAdonor_gain0.9700
12:10071512:ACCTT:Aacceptor_gain0.9600
12:10073292:CAG:Cdonor_gain0.9600
12:10075497:ATCTT:Adonor_loss0.9600
12:10075498:TCTTA:Tdonor_loss0.9600
12:10075499:CTTA:Cdonor_loss0.9600
12:10075500:TTA:Tdonor_loss0.9600
12:10075501:T:TGdonor_loss0.9600
12:10075502:AC:Adonor_loss0.9600
12:10081230:CACTT:Cdonor_loss0.9600
12:10081231:ACTT:Adonor_loss0.9600
12:10081232:CTTA:Cdonor_loss0.9600

AlphaMissense

1854 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:10073364:C:AW197C0.996
12:10073364:C:GW197C0.996
12:10073322:C:AW211C0.995
12:10073322:C:GW211C0.995
12:10075573:C:AW158C0.995
12:10075573:C:GW158C0.995
12:10075624:C:AW141C0.994
12:10075624:C:GW141C0.994
12:10073328:C:AW209C0.991
12:10073328:C:GW209C0.991
12:10075553:C:GC165S0.990
12:10075554:A:TC165S0.990
12:10075604:C:GC148S0.989
12:10075605:A:TC148S0.989
12:10071468:A:CC236W0.988
12:10075618:C:AW143C0.988
12:10075618:C:GW143C0.988
12:10071469:C:GC236S0.987
12:10071470:A:TC236S0.987
12:10071406:C:GC257S0.984
12:10071407:A:TC257S0.984
12:10073366:A:GW197R0.984
12:10073366:A:TW197R0.984
12:10075552:G:CC165W0.983
12:10071469:C:TC236Y0.982
12:10075553:C:TC165Y0.982
12:10075565:C:TC161Y0.982
12:10075603:G:CC148W0.982
12:10071430:C:GC249S0.981
12:10071431:A:TC249S0.981

dbSNP variants (sampled 300 via entrez): RS1000153633 (12:10083878 A>G), RS1000204271 (12:10086538 G>A,C), RS1000219364 (12:10087966 C>G,T), RS1000306099 (12:10077481 G>A), RS1000358787 (12:10077289 T>C), RS1000401645 (12:10081126 C>T), RS1000519420 (12:10090744 G>A), RS1000573501 (12:10090515 C>T), RS1000773057 (12:10100820 A>C,G,T), RS1000780094 (12:10097515 A>T), RS1000816326 (12:10080941 G>T), RS1000870466 (12:10083766 T>C), RS1001079983 (12:10094595 A>G), RS1001128958 (12:10097843 T>C), RS1001260220 (12:10086933 C>T)

Disease associations

OMIM: gene MIM:606782 | disease phenotypes: MIM:614079

GenCC curated gene-disease

Mondo (1): aspergillosis, susceptibility to (MONDO:0013562)

Orphanet (1): Aspergillosis (Orphanet:1163)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009391_1646Metabolite levels9.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007787plasma betaine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects cotreatment, decreases methylation, increases expression, affects methylation2
cobaltous chloridedecreases expression1
perfluoro-n-nonanoic acidaffects expression1
Pioglitazoneincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Benzo(a)pyreneincreases methylation1
Tretinoinincreases expression1
Valproic Acidincreases expression1
Zincdecreases expression1
beta-Naphthoflavonedecreases 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): aspergillosis, susceptibility to