COLEC10 collectin subfamily member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COLEC10provided by HGNC
Official Full Name: collectin subfamily member 10provided by HGNC
Primary source: HGNC:HGNC:2220
See related: Ensembl:ENSG00000184374 MIM:607620; AllianceGenome:HGNC:2220
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: 3MC3; CLL1; CL-10; CL-34
Summary: This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 17.0), placenta (RPKM 3.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (118952263..119108455)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (120080592..120236891)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (119964502..120120694)

Chromosome 8 - NC_000008.11 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 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?

The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis.
Title: The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis.
COLEC10 Induces Endoplasmic Reticulum Stress by Occupying GRP78 and Inhibits Hepatocellular Carcinoma.
Title: COLEC10 Induces Endoplasmic Reticulum Stress by Occupying GRP78 and Inhibits Hepatocellular Carcinoma.
A novel COLEC10 mutation in a child with 3MC syndrome.
Title: A novel COLEC10 mutation in a child with 3MC syndrome.
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Title: Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Collectin liver 1 (CL-L1, collectin 10) and collectin kidney 1 (CL-K1, collectin 11) were found widespread and almost identical tissue with a high expression in epithelial cells in endo-/exocrine secretory tissues and mucosa.
Title: CL-L1 and CL-K1 Exhibit Widespread Tissue Distribution With High and Co-Localized Expression in Secretory Epithelia and Mucosa.
High CLL1 expression is associated with cardiovascular disease.
Title: Collectin Liver 1 and Collectin Kidney 1 of the Lectin Complement Pathway Are Associated With Mortality After Kidney Transplantation.
Exome sequencing reveals mutations in collectin sub-family member 10 (C-type lectin) protein (COLEC10) as a cause of 3MC syndrome with main features include facial dysmorphism, craniosynostosis and cleft lip/palate.
Title: COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
high serum CL-L1 concentration in critically ill children upon PICU admission is associated with an increased risk of infection and prolonged need of intensive care, and counteracts the protective effect of having a high MASP-3 concentration
Title: The pattern recognition molecule collectin-L1 in critically ill children.
Data indicate differences in the plasma concentrations of collectin liver 1 and collectin kidney 1, M-ficolin and H-ficol in systemic lupus erythematosus (SLE) patients compared to a group of healthy controls.
Title: Collectin liver 1 and collectin kidney 1 and other complement-associated pattern recognition molecules in systemic lupus erythematosus.
Carriers of COLEC10 Arg125Trp had increased CL-L1 serum levels.
Title: Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Associated conditions

Description	Tests
3MC syndrome 3 MedGen: C0796032 OMIM: 248340 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple genetic loci for bone mineral density and fractures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 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

NoName (e-PCR)
- UniSTS:482576

STS-R97432 (e-PCR)
- UniSTS:54507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
enables chemoattractant activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of opsonization	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
part_of serine-type endopeptidase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: collectin-10

Names: collectin liver 1; collectin liver protein 1; collectin sub-family member 10 (C-type lectin); collectin-34

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_001324095.2 → NP_001311024.1 collectin-10 isoform 2

Status: REVIEWED

Source sequence(s)

AC080033, AC107953, AI417503, AK291791

UniProtKB/Swiss-Prot

Q9Y6Z7

Conserved Domains (1) summary

cd03591
Location:88 → 203

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
NM_006438.5 → NP_006429.2 collectin-10 isoform 1 precursor

See identical proteins and their annotated locations for NP_006429.2

Status: REVIEWED

Source sequence(s)

AC080033, AI417503, AK291791

Consensus CDS

CCDS6327.1

UniProtKB/Swiss-Prot

Q3SYH6, Q6UW19, Q9Y6Z7

Related

ENSP00000332723.2, ENST00000332843.3

Conserved Domains (2) summary

cd03591
Location:157 → 272

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:45 → 111

Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

118952263..119108455

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250756.4 → XP_005250813.1 collectin-10 isoform X1

See identical proteins and their annotated locations for XP_005250813.1

Conserved Domains (1) summary

cd03591
Location:88 → 203

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)