1. Gene
  2. TCN1 - transcobalamin 1 Gene

TCN1 - transcobalamin 1 Gene

中文名称:钴胺素 1

种属: Homo sapiens

同用名: HC; TC1; TCI; TC-1

基因 ID: 6947 | 基因类型: protein coding

关于 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.

功能概要

该基因编码维生素 B12 结合蛋白家族的一个成员。这个蛋白质家族,也称为 R 结合物,在各种组织和分泌物中表达。这种蛋白质是嗜中性粒细胞次级颗粒的主要成分,有助于将钴胺素转运到细胞中。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_001062.4 NP_001053.2 transcobalamin-1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cargo receptor ligand activity EXP
EXP: 通过实验结果推断
22547309 GOA
enables molecular sequestering activity EXP
EXP: 通过实验结果推断
23846701 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TCN1 蛋白结构

Cobalamin_bind

Cobalamin_bind: Eukaryotic cobalamin-binding protein (7 - 331)

DUF4430

DUF4430: Domain of unknown function (DUF4430) (360 - 427)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 433 a.a.
蛋白主名 其他名称

transcobalamin-1

haptocorin

重组 TCN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71789 TCN1 Protein, Human (P.pastoris, His) P20061 (24E-433Y) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus TCN1 NCBI
Rattus norvegicus TCN1 NCBI