Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6947
Gene name Gene Name - the full gene name approved by the HGNC.	Transcobalamin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TCN1
Synonyms (NCBI Gene) Gene synonyms aliases	HC, TC-1, TC1, TCI
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1209702636	A>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029712	hsa-miR-26b-5p	Microarray	19088304
MIRT2347388	hsa-miR-1246	CLIP-seq
MIRT2347389	hsa-miR-1290	CLIP-seq
MIRT2347390	hsa-miR-1301	CLIP-seq
MIRT2347391	hsa-miR-1305	CLIP-seq
MIRT2347392	hsa-miR-154	CLIP-seq
MIRT2347393	hsa-miR-1587	CLIP-seq
MIRT2347394	hsa-miR-1976	CLIP-seq
MIRT2347395	hsa-miR-2053	CLIP-seq
MIRT2347396	hsa-miR-3065-5p	CLIP-seq
MIRT2347397	hsa-miR-3154	CLIP-seq
MIRT2347398	hsa-miR-3167	CLIP-seq
MIRT2347399	hsa-miR-3179	CLIP-seq
MIRT2347400	hsa-miR-3185	CLIP-seq
MIRT2347401	hsa-miR-3646	CLIP-seq
MIRT2347402	hsa-miR-3668	CLIP-seq
MIRT2347403	hsa-miR-370	CLIP-seq
MIRT2347404	hsa-miR-3910	CLIP-seq
MIRT2347405	hsa-miR-3915	CLIP-seq
MIRT2347406	hsa-miR-3928	CLIP-seq
MIRT2347407	hsa-miR-421	CLIP-seq
MIRT2347408	hsa-miR-4477a	CLIP-seq
MIRT2347409	hsa-miR-4660	CLIP-seq
MIRT2347410	hsa-miR-4674	CLIP-seq
MIRT2347411	hsa-miR-4694-3p	CLIP-seq
MIRT2347412	hsa-miR-4732-5p	CLIP-seq
MIRT2347413	hsa-miR-4764-3p	CLIP-seq
MIRT2347414	hsa-miR-4802-3p	CLIP-seq
MIRT2347415	hsa-miR-491-3p	CLIP-seq
MIRT2347416	hsa-miR-5047	CLIP-seq
MIRT2347417	hsa-miR-561	CLIP-seq
MIRT2347418	hsa-miR-569	CLIP-seq
MIRT2347419	hsa-miR-618	CLIP-seq
MIRT2347420	hsa-miR-876-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006824	Process	Cobalt ion transport	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0015889	Process	Cobalamin transport	IBA	21873635
GO:0031419	Function	Cobalamin binding	IBA	21873635
GO:0035580	Component	Specific granule lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:1904724	Component	Tertiary granule lumen	TAS

MIM	HGNC	e!Ensembl
189905	11652	ENSG00000134827

Protein

UniProt ID

P20061

Protein name

Transcobalamin-1 (TC-1) (Haptocorrin) (HC) (Protein R) (Transcobalamin I) (TC I) (TCI)

Protein function

Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.

PDB

4KKI , 4KKJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01122	Cobalamin_bind	8 → 329	Eukaryotic cobalamin-binding protein	Family
PF14478	DUF4430	355 → 432	Domain of unknown function (DUF4430)	Domain

Tissue specificity

TISSUE SPECIFICITY: Produced by the salivary glands of the oral cavity, in response to ingestion of food. Major constituent of secondary granules in neutrophils. {ECO:0000269|PubMed:2777761}.

Sequence

MRQSHQLPLVGLLLFSFIPSQLCEICEVSEENYIRLKPLLNTMIQSNYNRGTSAVNVVLS
LKLVGIQIQTLMQKMIQQIKYNVKSRLSDVSSGELALIILALGVCRNAEENLIYDYHLID
KLENKFQAEIENMEAHNGTPLTNYYQLSLDVLALCLFNGNYSTAEVVNHFTPENKNYYFG
SQFSVDTGAMAVLALTCVKKSLINGQIKADEGSLKNISIYTKSLVEKILSEKKENGLIGN
TFSTGEAMQALFVSSDYYNENDWNCQQTLNTVLTEISQGAFSNPNAAAQVLPALMGKTFL
DINKDSSCVSASGNFNISADEPITVTPPDSQSYISVNYSVRINETYFTNVTVLNGSVFLS
VMEKAQKMNDTIFGFTMEERSWGPYITCIQGLCANNNDRTYWELLSGGEPLSQGAGSYVV
RNGENLEVRWSKY

Sequence length

433

Interactions

View interactions

	KEGG		Reactome
	Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Neutrophil degranulation

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	4627864
Transcobalamin deficiency	Transcobalamin I Deficiency	rs1157135425, rs606231119, rs372866837, rs1057520098, rs1456983114, rs1555895066, rs1461973241, rs1209702636, rs955351335, rs1602043738, rs2087528394, rs2087532435, rs2087564577, rs1279321570, rs2087720794, rs2087597945 View all (1 more)

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	35287670, 36793937, 37322027
Asthma	Associate	15270853, 28933920
Autoimmune Lymphoproliferative Syndrome	Associate	22306884
Carcinogenesis	Associate	26959381
Cerebral Infarction	Associate	32626985
Cholangiocarcinoma	Associate	35716043
Colitis Ulcerative	Associate	38070204
Colorectal Neoplasms	Stimulate	32686693
Colorectal Neoplasms	Associate	32753569
Hearing Loss	Associate	34758154
Hypoproteinemia	Associate	36275653
Immune System Diseases	Associate	26549640
Infections	Associate	29079575
Leukemia Lymphoma Adult T Cell	Associate	19655254
Leukopenia	Associate	36275653
Lymphatic Metastasis	Associate	36793937
Memory Disorders	Associate	30139959
Multiple Organ Failure	Associate	37533854
Multiple Sclerosis	Associate	37299978
Neoplasms	Associate	19655254, 26581891, 35287670
Neoplasms	Stimulate	32686693
Neurologic Manifestations	Associate	24225433
Stomach Neoplasms	Associate	21931799, 26959381
Stroke	Associate	32626985
Transcobalamin I Deficiency	Associate	19686235
Tuberculosis Pulmonary	Associate	36275653

TCN1 (transcobalamin 1)