ITLN1 intelectin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITLN1provided by HGNC
Official Full Name: intelectin 1provided by HGNC
Primary source: HGNC:HGNC:18259
See related: Ensembl:ENSG00000179914 MIM:609873; AllianceGenome:HGNC:18259
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HL1; LFR; HL-1; INTL; ITLN; hIntL; omentin
Summary: Enables calcium ion binding activity; identical protein binding activity; and oligosaccharide binding activity. Involved in positive regulation of glucose import; positive regulation of protein phosphorylation; and protein homotrimerization. Located in extracellular exosome. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon (RPKM 361.8), small intestine (RPKM 202.0) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160876540..160885180, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160013580..160022212, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160846330..160854970, complement)

Chromosome 1 - NC_000001.11 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
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?

A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma.
Title: A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma.
BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS.
Title: BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS.
Association of single nucleotide polymorphisms in ITLN1 gene with ischemic stroke risk in Xi'an population, Shaanxi province.
Title: Association of single nucleotide polymorphisms in ITLN1 gene with ischemic stroke risk in Xi'an population, Shaanxi province.
The potential role of omentin-1 in obesity-related metabolic dysfunction-associated steatotic liver disease: evidence from translational studies.
Title: The potential role of omentin-1 in obesity-related metabolic dysfunction-associated steatotic liver disease: evidence from translational studies.
Association of Intelectin 1 Gene rs2274907 A > T Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults.
Title: Association of Intelectin 1 Gene rs2274907 A > T Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults.
The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population.
Title: The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population.
The role of the novel adipokines vaspin and omentin in chronic inflammatory diseases.
Title: The role of the novel adipokines vaspin and omentin in chronic inflammatory diseases.
Correlations of Omentin-1 and Leptin with Bone Metabolism and Plasma Glucose Upon Type 2 Diabetes Mellitus and Osteoporosis.
Title: Correlations of Omentin-1 and Leptin with Bone Metabolism and Plasma Glucose Upon Type 2 Diabetes Mellitus and Osteoporosis.
Role of adipokines (omentin and visfatin) in coronary artery disease.
Title: Role of adipokines (omentin and visfatin) in coronary artery disease.
Effect of non-surgical periodontal therapy on the salivary levels of omentin-1, a novel adipokine biomarker in periodontitis: A clinico-biochemical study.
Title: Effect of non-surgical periodontal therapy on the salivary levels of omentin-1, a novel adipokine biomarker in periodontitis: A clinico-biochemical study.

Submit: New GeneRIF Correction See all GeneRIFs (231)

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
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables oligosaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
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 positive regulation of glucose import	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotrimerization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nematode	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA 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 membrane raft	ISS Inferred from Sequence or Structural Similarity more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: intelectin-1

Names: ITLN-1; endothelial lectin HL-1; galactofuranose-binding lectin; intelectin 1 (galactofuranose binding); intestinal lactoferrin receptor

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_017625.3 → NP_060095.2 intelectin-1 precursor

See identical proteins and their annotated locations for NP_060095.2

Status: VALIDATED

Source sequence(s)

AL354714, BC020664

Consensus CDS

CCDS1211.1

UniProtKB/Swiss-Prot

Q5IWS4, Q5VYI4, Q6YDJ3, Q8WWA0, Q9NP67

UniProtKB/TrEMBL

Q5IWS5

Related

ENSP00000323587.3, ENST00000326245.4

Conserved Domains (1) summary

cl00085
Location:37 → 82

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...