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

Gene ID: 10584, updated on 8-Jul-2021

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
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
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Genomic context

See COLEC10 in Genome Data Viewer
Location:
8q24.12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (118952233..119108455)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (119964502..120120694)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375723 Neighboring gene TNF receptor superfamily member 11b Neighboring gene GABA type A receptor associated protein like 2 pseudogene Neighboring gene RNA, U6 small nuclear 12, pseudogene Neighboring gene COLEC10 intron CAGE-defined low expression enhancer Neighboring gene uncharacterized LOC101927513 Neighboring gene uncharacterized LOC105375725 Neighboring gene MAL2 antisense RNA 1 Neighboring gene mal, T cell differentiation protein 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
3MC syndrome 3
MedGen: C0796032 OMIM: 248340 GeneReviews: Not available
Compare labs
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
GeneReviews: Not available
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
GeneReviews: Not available
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
GeneReviews: Not available
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
GeneReviews: Not available
Multiple genetic loci for bone mineral density and fractures.
GeneReviews: Not available
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
GeneReviews: Not available
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.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC118794, MGC118795

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chemoattractant activity IDA
Inferred from Direct Assay
more info
PubMed 
enables mannose binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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
 
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 extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_001324095.2NP_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:88203
    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)
  2. NM_006438.5NP_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
    Q9Y6Z7
    UniProtKB/TrEMBL
    A0A024R9J3
    Related
    ENSP00000332723.2, ENST00000332843.3
    Conserved Domains (2) summary
    cd03591
    Location:157272
    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:45111
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    118952233..119108455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250756.3XP_005250813.1  collectin-10 isoform X1

    See identical proteins and their annotated locations for XP_005250813.1

    Conserved Domains (1) summary
    cd03591
    Location:88203
    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)
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