CLEC5A C-type lectin domain containing 5A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLEC5Aprovided by HGNC
Official Full Name: C-type lectin domain containing 5Aprovided by HGNC
Primary source: HGNC:HGNC:2054
See related: Ensembl:ENSG00000258227 MIM:604987; AllianceGenome:HGNC:2054
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDL1; MDL-1; CLECSF5
Summary: 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 signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 12.6), appendix (RPKM 4.1) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (141927357..141946974, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143243134..143262731, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (141627157..141646774, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Overexpression of CLEC5A inhibits cell proliferation and metastasis and reverses epithelial-mesenchymal transition in hepatocellular carcinoma].
Title: [Overexpression of CLEC5A inhibits cell proliferation and metastasis and reverses epithelial-mesenchymal transition in hepatocellular carcinoma].
CLEC5A expression can be triggered by spike glycoprotein and may be a potential target for COVID-19 therapy.
Title: CLEC5A expression can be triggered by spike glycoprotein and may be a potential target for COVID-19 therapy.
CLEC5A and TLR2 are critical in SARS-CoV-2-induced NET formation and lung inflammation.
Title: CLEC5A and TLR2 are critical in SARS-CoV-2-induced NET formation and lung inflammation.
Activation of the Innate Immune Checkpoint CLEC5A on Myeloid Cells in the Absence of Danger Signals Modulates Macrophages' Function but Does Not Trigger the Adaptive T Cell Immune Response.
Title: Activation of the Innate Immune Checkpoint CLEC5A on Myeloid Cells in the Absence of Danger Signals Modulates Macrophages' Function but Does Not Trigger the Adaptive T Cell Immune Response.
CLEC5A expressed on myeloid cells as a M2 biomarker relates to immunosuppression and decreased survival in patients with glioma.
Title: CLEC5A expressed on myeloid cells as a M2 biomarker relates to immunosuppression and decreased survival in patients with glioma.
Genetic association analysis of CLEC5A and CLEC7A gene single-nucleotide polymorphisms and Crohn's disease.
Title: Genetic association analysis of CLEC5A and CLEC7A gene single-nucleotide polymorphisms and Crohn's disease.
CLEC2 and CLEC5A: Pathogenic Host Factors in Acute Viral Infections.
Title: CLEC2 and CLEC5A: Pathogenic Host Factors in Acute Viral Infections.
CLEC5A promotes the proliferation of gastric cancer cells by activating the PI3K/AKT/mTOR pathway.
Title: CLEC5A promotes the proliferation of gastric cancer cells by activating the PI3K/AKT/mTOR pathway.
CEBPB can inhibit the proliferation of osteosarcoma cells via regulating the expression of CLEC5A.
Title: Transcription factor CEBPB inhibits the proliferation of osteosarcoma by regulating downstream target gene CLEC5A.
REVIEW: CLEC5A, a Promiscuous Pattern Recognition Receptor to Microbes and Beyond
Title: CLEC5A: A Promiscuous Pattern Recognition Receptor to Microbes and Beyond.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CLECSF5_3562 (e-PCR)
- UniSTS:468339

NoName (e-PCR)
- UniSTS:484308

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables virus receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in osteoblast development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: C-type lectin domain family 5 member A

Names: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5; C-type lectin superfamily member 5; myeloid DAP12-associating lectin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301167.2 → NP_001288096.1 C-type lectin domain family 5 member A isoform 2

See identical proteins and their annotated locations for NP_001288096.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC073647, AK295200, AK307095

Consensus CDS

CCDS75670.1

UniProtKB/TrEMBL

C9JPR7, Q14DL9

Related

ENSP00000446890.2, ENST00000551012.6

Conserved Domains (1) summary

cd03593
Location:48 → 162

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_013252.3 → NP_037384.1 C-type lectin domain family 5 member A isoform 1

See identical proteins and their annotated locations for NP_037384.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI418484, AJ271684, BQ005467, BQ446122

Consensus CDS

CCDS5870.1

UniProtKB/Swiss-Prot

Q52M11, Q9NY25, Q9UKQ0

UniProtKB/TrEMBL

A4D1U7

Related

ENSP00000449999.1, ENST00000546910.6

Conserved Domains (1) summary

cd03593
Location:71 → 185

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

141927357..141946974 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515995.3 → XP_011514297.1 C-type lectin domain family 5 member A isoform X1

See identical proteins and their annotated locations for XP_011514297.1

Conserved Domains (1) summary

cd03593
Location:28 → 142

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)