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TCN1 transcobalamin 1 [ Homo sapiens (human) ]

Gene ID: 6947, updated on 21-Dec-2019

Summary

Official Symbol
TCN1provided by HGNC
Official Full Name
transcobalamin 1provided by HGNC
Primary source
HGNC:HGNC:11652
See related
Ensembl:ENSG00000134827 MIM:189905
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

Genomic context

See TCN1 in Genome Data Viewer
Location:
11q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (59852808..59866487, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59620281..59634041, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L16 Neighboring gene cobalamin binding intrinsic factor Neighboring gene oocyte secreted protein family member 3 Neighboring gene steroid 5 alpha-reductase 3 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 15631 Neighboring gene oocyte secreted protein 1

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

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
NHGRI GWA Catalog
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
cobalamin transport IEA
Inferred from Electronic Annotation
more info
 
cobalt ion transport IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transcobalamin-1
Names
haptocorin
haptocorrin
protein R
transcobalamin I (vitamin B12 binding protein, R binder family)

NCBI Reference Sequences (RefSeq)

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_001062.4NP_001053.2  transcobalamin-1 precursor

    See identical proteins and their annotated locations for NP_001053.2

    Status: REVIEWED

    Source sequence(s)
    BC018632, BM769693, BM818792, J05068
    Consensus CDS
    CCDS7978.1
    UniProtKB/Swiss-Prot
    P20061
    Related
    ENSP00000257264.3, ENST00000257264.4
    Conserved Domains (2) summary
    pfam01122
    Location:24327
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:356432
    DUF4430; Domain of unknown function (DUF4430)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    59852808..59866487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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