TCN1 - transcobalamin 1 Gene

Also Known as HC; TC1; TCI; TC-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6947

About TCN1

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,852,808-59,866,487 (from NCBI)

This gene has 5 transcripts (splice variants), 97 orthologues and 2 paralogues. Biased expression in salivary gland (RPKM 166.7), gall bladder (RPKM 102.9) and 3 other tissues.

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]

TCN1 Products (1)

mRNA	Protein	Name
NM_001062.4	NP_001053.2	transcobalamin-1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Referencias	Source
enables cargo receptor ligand activity	EXP EXP: Inferred from Experiment	22547309	GOA
enables molecular sequestering activity	EXP EXP: Inferred from Experiment	23846701	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TCN1 Protein Structure

Cobalamin_bind

DUF4430

0
100
200
300
400
433 a.a.

Protein Preferred Names	Protein Names
transcobalamin-1	haptocorin

TCN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	TCN1	P20061	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	TCN1	P20061	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	TCN1	P20061	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TCN1 Proteins

Referencia número	Nombre del producto	Accession	Pureza
HY-P71789	TCN1 Protein, Human (P.pastoris, His)	P20061 (E24-Y433)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Transcobalamin I Deficiency	Tcn1 Deficiency Cobalamin Pseudodeficiency Due To Transcobalamin Deficiency Cobalamin R Binder Protein Deficiency Transcobalamin 1 Deficiency Haptocorrin Deficiency Tci Deficiency Transcobalamin-1 Deficiency
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Vitamin Metabolic Disorder
Transcobalamin Ii Deficiency	TCN2 DEFICIENCY Tc Ii Deficiency Transcobalamin Deficiency Tc Deficiency Inherited Deficiency Of Transcobalamin
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Tropical Sprue	Tropical Steatorrhea Tropical Enteropathy Sprue, Tropical Sprue - Tropical Idiopathic Tropical Malabsorption Syndrome Tropical Steatorrhoea Tropical Diarrhoea Ts - [Tropical Sprue] Psilosis Sprue Nos
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Pernicious Anemia	Anemia, Pernicious Anemia Pernicious Pernicious Anaemia Addison'S Anaemia Biermer'S Anaemia Biermer'S Anemia Acquired Pernicious Anemia Addison-Biermer Anemia Addisonian Anemia Biermer Anemia Biermer'S Disease Juvenile Onset Pernicious Anemia Biermer Disease Biermer-Addison Disease
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Diphyllobothriasis	Diphyllobothrium Infection Fish Tapeworm Bothriocephalosis Infection By Bothriocephalus Fish Tapeworm Infection Dibothriocephalus Anaemia Dibothriocephaliasis Broad Tapeworm Infection Bothriocephaliasis Dibothriocephalus Intestinal Diphyllobothriasis Diphyllobothrium Infestation Dibothriocephalus Infestation Bothriocephalus Infestation Adult Diphyllobothrium Infection Tapeworm Anaemia Infection By Diphyllobothrium Larvae
Blind Loop Syndrome	Bacterial Overgrowth Syndrome
Fibrolamellar Carcinoma	Fibrolamellar Hepatocellular Carcinoma Fhcc Fibrolamellar Hepatocarcinoma Hepatocellular Carcinoma, Fibrolamellar Oncocytic Hepatocellular Tumor Eosinophilic Glassy Cell Hepatoma Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis Fl-Hcc Fibrolamellar Oncocytic Hepatoma Hepatocellular Carcinoma With Increased Stromal Fibrosis Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS14318	TCN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown