TCN1 transcobalamin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCN1provided by HGNC
Official Full Name: transcobalamin 1provided by HGNC
Primary source: HGNC:HGNC:11652
See related: Ensembl:ENSG00000134827 MIM:189905; AllianceGenome:HGNC:11652
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: HC; TC1; TCI; TC-1
Summary: This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]
Expression: Biased expression in salivary gland (RPKM 166.7), gall bladder (RPKM 102.9) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 11q12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (59852808..59866487, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (59804115..59817794, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (59620281..59633960, complement)

Chromosome 11 - NC_000011.10 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?

TCN1 Expression Is Increased in Asthma.
Title: TCN1 Expression Is Increased in Asthma.
Reference intervals and stability of haptocorrin and holotranscobalamin in Danish children and elderly.
Title: Reference intervals and stability of haptocorrin and holotranscobalamin in Danish children and elderly.
TCN1 Deficiency Inhibits the Malignancy of Colorectal Cancer Cells by Regulating the ITGB4 Pathway.
Title: TCN1 Deficiency Inhibits the Malignancy of Colorectal Cancer Cells by Regulating the ITGB4 Pathway.
Clinicopathological Analysis and Prognostic Assessment of TCN1 in Patients with Gastric Cancer.
Title: Clinicopathological Analysis and Prognostic Assessment of TCN1 in Patients with Gastric Cancer.
Clinicopathological Analysis and Prognostic Assessment of Transcobalamin I (TCN1) in Patients with Colorectal Tumors.
Title: Clinicopathological Analysis and Prognostic Assessment of Transcobalamin I (TCN1) in Patients with Colorectal Tumors.
This study reports a novel association between the African ancestry-specific loss-of-function variant TCN1-rs34530014 and lower Vitamin B12 concentration.
Title: A common TCN1 loss-of-function variant is associated with lower vitamin B(12) concentration in African Americans.
Higher placental TC protein abundance was associated with higher cord blood vitamin B12 concentrations, suggesting a potential role in vitamin B12 transport to the fetus.
Title: Vitamin B12 and placental expression of transcobalamin in pregnant adolescents.
The variant rs526934 from the TCN1 gene was associated with an increased risk of developing gastric cancer.
Title: Association study between genome-wide significant variants of vitamin B12 metabolism and gastric cancer in a han Chinese population.
Levels of holotranscobalamin are decreased patients with cobalamin deficiency.
Title: Role of serum holotranscobalamin (holoTC) in the diagnosis of patients with low serum cobalamin. Comparison with methylmalonic acid and homocysteine.
Structural basis for universal corrinoid recognition by the cobalamin transport protein haptocorrin.
Title: Structural basis for universal corrinoid recognition by the cobalamin transport protein haptocorrin.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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 Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. 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

SHGC-12512 (e-PCR)
- UniSTS:13312

GDB:197886 (e-PCR)
- UniSTS:155989

TCN1 (e-PCR)
- UniSTS:48622

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cargo receptor ligand activity	EXP Inferred from Experiment more info	PubMed
enables cobalamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular sequestering activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cobalamin transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cobalamin transport	TAS Traceable Author Statement more info
involved_in cobalt ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transcobalamin-1

Names: haptocorin; haptocorrin; protein R; transcobalamin I (vitamin B12 binding protein, R binder family)

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.