TCN1 (transcobalamin 1)

Gene

• Entrez ID: 6947
• Gene name: Transcobalamin 1
• Gene symbol: TCN1
• Synonyms: HC, TC-1, TC1, TCI
• Chromosome: 11
• Chromosome location: 11q12.1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 189905
• HGNC: 11652
• e!Ensembl: 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

• Sequence:

  MRQSHQLPLVGLLLFSFIPSQLCEICEVSEENYIRLKPLLNTMIQSNYNRGTSAVNVVLS
  LKLVGIQIQTLMQKMIQQIKYNVKSRLSDVSSGELALIILALGVCRNAEENLIYDYHLID
  KLENKFQAEIENMEAHNGTPLTNYYQLSLDVLALCLFNGNYSTAEVVNHFTPENKNYYFG
  SQFSVDTGAMAVLALTCVKKSLINGQIKADEGSLKNISIYTKSLVEKILSEKKENGLIGN
  TFSTGEAMQALFVSSDYYNENDWNCQQTLNTVLTEISQGAFSNPNAAAQVLPALMGKTFL
  DINKDSSCVSASGNFNISADEPITVTPPDSQSYISVNYSVRINETYFTNVTVLNGSVFLS
  VMEKAQKMNDTIFGFTMEERSWGPYITCIQGLCANNNDRTYWELLSGGEPLSQGAGSYVV
  RNGENLEVRWSKY

• Sequence length: 433

Pathways

KEGG:

Cobalamin transport and metabolism

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	4627864
Transcobalamin deficiency	Transcobalamin I Deficiency	rs1157135425, rs606231119, rs372866837, rs1057520098, rs1456983114, rs1555895066, rs1461973241, rs1209702636, rs955351335, rs1602043738, rs2087528394, rs2087532435, rs2087564577, rs1279321570, rs2087720794, rs2087597945