COLEC11 collectin subfamily member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COLEC11provided by HGNC
Official Full Name: collectin subfamily member 11provided by HGNC
Primary source: HGNC:HGNC:17213
See related: Ensembl:ENSG00000118004 MIM:612502; AllianceGenome:HGNC:17213
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: 3MC2; CLK1; CL-11; CL-K1-I; CL-K1-II; CL-K1-IIa; CL-K1-IIb
Summary: This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Biased expression in gall bladder (RPKM 20.2), liver (RPKM 13.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (3595112..3644644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (3617856..3667536)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (3642702..3692234)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Collectin-11 promotes cancer cell proliferation and tumor growth.
Title: Collectin-11 promotes cancer cell proliferation and tumor growth.
Collectin11 and Complement Activation in IgA Nephropathy.
Title: Collectin11 and Complement Activation in IgA Nephropathy.
Importance of glycosylation in the interaction of Tamm-Horsfall protein with collectin-11 and acute kidney injury.
Title: Importance of glycosylation in the interaction of Tamm-Horsfall protein with collectin-11 and acute kidney injury.
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.
C1q/TNF-Related Protein 6 Is a Pattern Recognition Molecule That Recruits Collectin-11 from the Complement System to Ligands.
Title: C1q/TNF-Related Protein 6 Is a Pattern Recognition Molecule That Recruits Collectin-11 from the Complement System to Ligands.
this review discuss the role of collectin-11 as a pattern recognition molecule in complement-mediated ischemic kidney injury
Title: Collectin-11 (CL-11) Is a Major Sentinel at Epithelial Surfaces and Key Pattern Recognition Molecule in Complement-Mediated Ischaemic Injury.
The allele rs7567833G, the genotypes rs7567833AG and rs7567833GG, and the COLEC11*GGC haplotype were related to T. cruzi infection and clinical progression towards symptomatic Chagas Disease (CD). COLEC11 and MASP2*CD risk genotypes were associated with cardiomyopathy, suggesting that both loci act synergistically in immune modulation of the disease.
Title: Human collectin-11 (COLEC11) and its synergic genetic interaction with MASP2 are associated with the pathophysiology of Chagas Disease.
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.
this study demonstrates the role of CL-11 and the molecular mechanisms involved in modulating retinal pigment epithelial cell phagocytosis and cytokine production
Title: Collectin-11 Is an Important Modulator of Retinal Pigment Epithelial Cell Phagocytosis and Cytokine Production.
High CLK1 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.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
3MC syndrome 2 MedGen: C0796279 OMIM: 265050 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables fucose binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables oligosaccharide binding	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 antimicrobial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in complement activation	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, lectin pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	ISS Inferred from Sequence or Structural Similarity more info
involved_in execution phase of apoptosis	IC Inferred by Curator more info	PubMed
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
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
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
part_of serine-type endopeptidase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: collectin-11

Names: Collectin K1; collectin kidney protein 1; collectin sub-family member 11

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.

Genomic

NG_031954.1 RefSeqGene

Range

5001..54813

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_350

mRNA and Protein(s)

NM_001255982.2 → NP_001242911.1 collectin-11 isoform c precursor

See identical proteins and their annotated locations for NP_001242911.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AB119650, BE259985, BF740034

UniProtKB/Swiss-Prot

Q9BWP8

Conserved Domains (1) summary

cd03591
Location:127 → 242

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_001255983.2 → NP_001242912.1 collectin-11 isoform d precursor

See identical proteins and their annotated locations for NP_001242912.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AB119651, BE259985, BF740034

Consensus CDS

CCDS58690.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000371494.2, ENST00000382062.6

Conserved Domains (2) summary

cd03591
Location:127 → 242

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:21 → 76

Collagen; Collagen triple helix repeat (20 copies)
NM_001255984.2 → NP_001242913.1 collectin-11 isoform e precursor

See identical proteins and their annotated locations for NP_001242913.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

AB119652, BE259985, BF740034

UniProtKB/Swiss-Prot

Q9BWP8

Conserved Domains (1) summary

cd03591
Location:103 → 218

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_001255985.1 → NP_001242914.1 collectin-11 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (f) is longer and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AK303824, BC000078, BF740034

Consensus CDS

CCDS58689.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000411770.2, ENST00000418971.6

Conserved Domains (2) summary

cd03591
Location:165 → 280

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:58 → 111

Collagen; Collagen triple helix repeat (20 copies)
NM_001255986.1 → NP_001242915.1 collectin-11 isoform g

See identical proteins and their annotated locations for NP_001242915.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (g) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB119684, BF740034

Consensus CDS

CCDS58691.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000385130.3, ENST00000403096.7

Conserved Domains (2) summary

cd03591
Location:125 → 240

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:18 → 71

Collagen; Collagen triple helix repeat (20 copies)
NM_001255987.1 → NP_001242916.1 collectin-11 isoform h

See identical proteins and their annotated locations for NP_001242916.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, initiates translation at an alternate start codon, and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (h) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB119685, BF740034

Consensus CDS

CCDS58693.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000384882.1, ENST00000402794.4

Conserved Domains (1) summary

cd03591
Location:101 → 216

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_001255988.1 → NP_001242917.1 collectin-11 isoform i

See identical proteins and their annotated locations for NP_001242917.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR, initiates translation at an alternate start codon, and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (i) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB119686, BF740034

Consensus CDS

CCDS58692.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000385653.1, ENST00000402922.2

Conserved Domains (2) summary

cd03591
Location:101 → 216

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:17 → 50

Collagen; Collagen triple helix repeat (20 copies)
NM_001255989.1 → NP_001242918.1 collectin-11 isoform j

See identical proteins and their annotated locations for NP_001242918.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR, initiates translation at an alternate start codon, and lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (j) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB119687, BF740034

Consensus CDS

CCDS58694.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000385827.1, ENST00000404205.5

Conserved Domains (1) summary

cd03591
Location:77 → 192

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_024027.5 → NP_076932.1 collectin-11 isoform a precursor

See identical proteins and their annotated locations for NP_076932.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AB119525, BE259985, BF740034

Consensus CDS

CCDS1649.1

UniProtKB/Swiss-Prot

A1IGE4, A1IGE5, A1IGE6, A7VJJ2, A7VJJ3, A7VJJ4, A7VJJ5, B2R9M5, B4E1G0, J3KQY9, Q5CZ85, Q7Z6N1, Q9BWP8

Related

ENSP00000339168.4, ENST00000349077.9

Conserved Domains (2) summary

cd03591
Location:151 → 266

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:44 → 97

Collagen; Collagen triple helix repeat (20 copies)
NM_199235.3 → NP_954705.1 collectin-11 isoform b

See identical proteins and their annotated locations for NP_954705.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BC009951, BF740034

Consensus CDS

CCDS1650.1

UniProtKB/Swiss-Prot

Q9BWP8

Related

ENSP00000236693.7, ENST00000236693.11

Conserved Domains (1) summary

cd03591
Location:148 → 263

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)

RNA

NR_045659.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11) contains an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC000078, BE259985, BF740034, BM547424

Related

ENST00000416132.5

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

3595112..3644644

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711897.4 → XP_006711960.1 collectin-11 isoform X2

Conserved Domains (2) summary

cd03591
Location:141 → 256

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:35 → 90

Collagen; Collagen triple helix repeat (20 copies)
XM_005263853.5 → XP_005263910.1 collectin-11 isoform X1

Conserved Domains (1) summary

cd03591
Location:141 → 256

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)