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2025-05-09 19:18:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001062 1577 bp mRNA linear PRI 11-MAY-2013
DEFINITION Homo sapiens transcobalamin I (vitamin B12 binding protein, R
binder family) (TCN1), mRNA.
ACCESSION NM_001062
VERSION NM_001062.3 GI:133987572
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1577)
AUTHORS Greibe,E., Fedosov,S., Sorensen,B.S., Hojrup,P., Poulsen,S.S. and
Nexo,E.
TITLE A single rainbow trout cobalamin-binding protein stands in for
three human binders
JOURNAL J. Biol. Chem. 287 (40), 33917-33925 (2012)
PUBMED 22872637
REMARK GeneRIF: comparison of human and rainbow trout cobalamin-binding
protein
REFERENCE 2 (bases 1 to 1577)
AUTHORS Bowen,R.A., Dowdell,K.C., Dale,J.K., Drake,S.K., Fleisher,T.A.,
Hortin,G.L., Remaley,A.T., Nexo,E. and Rao,V.K.
TITLE Elevated vitamin B(1)(2) levels in autoimmune lymphoproliferative
syndrome attributable to elevated haptocorrin in lymphocytes
JOURNAL Clin. Biochem. 45 (6), 490-492 (2012)
PUBMED 22306884
REMARK GeneRIF: Elevated concentrations of B(12) found in autoimmune
lymphoproliferative syndrome patients were due to increased
lymphocyte expression of haptocorrin.
REFERENCE 3 (bases 1 to 1577)
AUTHORS Chong,L.Y., Cheok,P.Y., Tan,W.J., Thike,A.A., Allen,G., Ang,M.K.,
Ooi,A.S., Tan,P., Teh,B.T. and Tan,P.H.
TITLE Keratin 15, transcobalamin I and homeobox gene Hox-B13 expression
in breast phyllodes tumors: novel markers in biological
classification
JOURNAL Breast Cancer Res. Treat. 132 (1), 143-151 (2012)
PUBMED 21574054
REMARK GeneRIF: Stromal expression of KRT15, TCN1, and HOXB13 was
significantly correlated with tumor grade, stromal
hypercellularity, mitotic activity and microscopic borders.
REFERENCE 4 (bases 1 to 1577)
AUTHORS Collin,S.M., Metcalfe,C., Refsum,H., Lewis,S.J., Smith,G.D.,
Cox,A., Davis,M., Marsden,G., Johnston,C., Lane,J.A., Donovan,J.L.,
Neal,D.E., Hamdy,F.C., Smith,A.D. and Martin,R.M.
TITLE Associations of folate, vitamin B12, homocysteine, and
folate-pathway polymorphisms with prostate-specific antigen
velocity in men with localized prostate cancer
JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (11), 2833-2838 (2010)
PUBMED 20852008
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1577)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 6 (bases 1 to 1577)
AUTHORS Garau,G., Fedosov,S.N., Petersen,T.E., Geremia,S. and Randaccio,L.
TITLE Crystallization and preliminary X-ray diffraction analysis of human
transcobalamin, a vitamin B12-transporting protein
JOURNAL Acta Crystallogr. D Biol. Crystallogr. 57 (PT 12), 1890-1892 (2001)
PUBMED 11717507
REFERENCE 7 (bases 1 to 1577)
AUTHORS Nielsen,R., Sorensen,B.S., Birn,H., Christensen,E.I. and Nexo,E.
TITLE Transcellular transport of vitamin B(12) in LLC-PK1 renal proximal
tubule cells
JOURNAL J. Am. Soc. Nephrol. 12 (6), 1099-1106 (2001)
PUBMED 11373332
REFERENCE 8 (bases 1 to 1577)
AUTHORS Johnston,J., Yang-Feng,T. and Berliner,N.
TITLE Genomic structure and mapping of the chromosomal gene for
transcobalamin I (TCN1): comparison to human intrinsic factor
JOURNAL Genomics 12 (3), 459-464 (1992)
PUBMED 1463480
REMARK Erratum:[Genomics 1992 Sep;14(1):208]
REFERENCE 9 (bases 1 to 1577)
AUTHORS Johnston,J., Bollekens,J., Allen,R.H. and Berliner,N.
TITLE Structure of the cDNA encoding transcobalamin I, a neutrophil
granule protein
JOURNAL J. Biol. Chem. 264 (27), 15754-15757 (1989)
PUBMED 2777761
REFERENCE 10 (bases 1 to 1577)
AUTHORS Burger,R.L., Mehlman,C.S. and Allen,R.H.
TITLE Human plasma R-type vitamin B12-binding proteins. I. Isolation and
characterization of transcobalamin I. TRANSCOBALAMIN III. and the
normal granulocyte vitamin B12-binding protein
JOURNAL J. Biol. Chem. 250 (19), 7700-7706 (1975)
PUBMED 1176444
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP370727.1, J05068.1,
BC018632.1, BM769693.1 and BM818792.1.
On Mar 22, 2007 this sequence version replaced gi:21071007.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: J05068.1, BC018632.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-23 BP370727.1 7-29
24-453 J05068.1 1-430
454-943 BC018632.1 376-865
944-1371 BM769693.1 190-617
1372-1560 J05068.1 1349-1537
1561-1577 BM818792.1 104-120
FEATURES Location/Qualifiers
source 1..1577
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q11-q12"
gene 1..1577
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/note="transcobalamin I (vitamin B12 binding protein, R
binder family)"
/db_xref="GeneID:6947"
/db_xref="HGNC:11652"
/db_xref="HPRD:01795"
/db_xref="MIM:189905"
exon 1..177
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
misc_feature 57..59
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/note="upstream in-frame stop codon"
CDS 99..1400
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/note="haptocorin; haptocorrin; transcobalamin-1"
/codon_start=1
/product="transcobalamin-1 precursor"
/protein_id="NP_001053.2"
/db_xref="GI:21071008"
/db_xref="CCDS:CCDS7978.1"
/db_xref="GeneID:6947"
/db_xref="HGNC:11652"
/db_xref="HPRD:01795"
/db_xref="MIM:189905"
/translation="
MRQSHQLPLVGLLLFSFIPSQLCEICEVSEENYIRLKPLLNTMIQSNYNRGTSAVNVVLSLKLVGIQIQTLMQKMIQQIKYNVKSRLSDVSSGELALIILALGVCRNAEENLIYDYHLIDKLENKFQAEIENMEAHNGTPLTNYYQLSLDVLALCLFNGNYSTAEVVNHFTPENKNYYFGSQFSVDTGAMAVLALTCVKKSLINGQIKADEGSLKNISIYTKSLVEKILSEKKENGLIGNTFSTGEAMQALFVSSDYYNENDWNCQQTLNTVLTEISQGAFSNPNAAAQVLPALMGKTFLDINKDSSCVSASGNFNISADEPITVTPPDSQSYISVNYSVRINETYFTNVTVLNGSVFLSVMEKAQKMNDTIFGFTMEERSWGPYITCIQGLCANNNDRTYWELLSGGEPLSQGAGSYVVRNGENLEVRWSKY
"
sig_peptide 99..167
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 168..1397
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/product="transcobalamin-1"
misc_feature 168..1091
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/note="Eukaryotic cobalamin-binding protein; Region:
Cobalamin_bind; pfam01122"
/db_xref="CDD:201607"
misc_feature 522..536
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20061.2);
Region: Cobalamin binding (By similarity)"
misc_feature 642..656
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20061.2);
Region: Cobalamin binding (By similarity)"
misc_feature 1302..1310
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20061.2);
Region: Cobalamin binding (By similarity)"
exon 178..357
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
exon 358..498
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
exon 499..654
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
exon 655..845
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
variation 762
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="a"
/replace="g"
/db_xref="dbSNP:1062607"
variation 792
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace=""
/replace="a"
/db_xref="dbSNP:4987226"
variation 817
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="a"
/replace="g"
/db_xref="dbSNP:4987227"
exon 846..1035
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
variation 944
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042613"
variation 953
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="c"
/replace="t"
/db_xref="dbSNP:72550759"
variation 1023
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="a"
/replace="g"
/db_xref="dbSNP:72550758"
exon 1036..1219
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
exon 1220..1338
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
exon 1339..1567
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/inference="alignment:Splign:1.39.8"
STS 1343..1503
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/standard_name="GDB:197886"
/db_xref="UniSTS:155989"
STS 1403..1554
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/standard_name="SHGC-12512"
/db_xref="UniSTS:13312"
STS 1404..1515
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/standard_name="TCN1"
/db_xref="UniSTS:48622"
variation 1533
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
/replace="a"
/replace="g"
/db_xref="dbSNP:72561781"
polyA_signal 1537..1542
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
polyA_site 1567
/gene="TCN1"
/gene_synonym="TC-1; TC1; TCI"
ORIGIN
ggctgaggcaacctgaaggaggagctctcattaccttctgcccatcacttaataaatagccagccaattcatcaacattctggtacactgttggagagatgagacagtcacaccagctgcccctagtggggctcttactgttttcttttattccaagccaactatgcgagatttgtgaggtaagtgaagaaaactacatccgcctaaaacctctgttgaatacaatgatccagtcaaactataacaggggaaccagcgctgtcaatgttgtgttgtccctcaaacttgttggaatccagatccaaaccctgatgcaaaagatgatccaacaaatcaaatacaatgtgaaaagcagattgtcagatgtaagctcgggagagcttgccttgattatactggctttgggagtatgtcgtaacgctgaggaaaacttaatatatgattaccacctgatcgacaagctagaaaataaattccaagcagaaattgaaaatatggaagcacacaatggcactcccctgactaactactaccagctcagcctggacgttttggccttgtgtctgttcaatgggaactactcaaccgccgaagttgtcaaccacttcactcctgaaaataaaaactattattttggtagccagttctcagtagatactggtgcaatggctgtcctggctctgacctgtgtgaagaagagtctaataaatgggcagatcaaagcagatgaaggcagtttaaagaacatcagtatttatacaaagtcactggtagaaaagattctgtctgagaaaaaagaaaatggtctcattggaaacacatttagcacaggagaagccatgcaggccctctttgtatcatcagactattataatgaaaatgactggaattgccaacaaactctgaatacagtgctcacggaaatttctcaaggagcattcagcaatccaaacgctgcagcccaggtcttacctgccctgatgggaaagaccttcttggatattaacaaagactcttcttgcgtctctgcttcaggtaacttcaacatctccgctgatgagcctataactgtgacacctcctgactcacaatcatatatctccgtcaattactctgtgagaatcaatgaaacatatttcaccaatgtcactgtgctaaatggttctgtcttcctcagtgtgatggagaaagcccagaaaatgaatgatactatatttggtttcacaatggaggagcgctcatgggggccctatatcacctgtattcagggcctatgtgccaacaataatgacagaacctactgggaacttctgagtggaggcgaaccactgagccaaggagctggtagttacgttgtccgcaatggagaaaacttggaggttcgctggagcaaatactaataagcccaaactttcctcagctgcataaaatccatttgcagtggagttccatgtttattgtccttatgccttcttcttcatttatcccagtacgagcaggagagttaataacctccccttctctctctacatgttcaataaaagttgttgaaagattaacaactataaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6947 -> Molecular function: GO:0031419 [cobalamin binding] evidence: IBA
GeneID:6947 -> Biological process: GO:0006766 [vitamin metabolic process] evidence: TAS
GeneID:6947 -> Biological process: GO:0006767 [water-soluble vitamin metabolic process] evidence: TAS
GeneID:6947 -> Biological process: GO:0006824 [cobalt ion transport] evidence: IEA
GeneID:6947 -> Biological process: GO:0009235 [cobalamin metabolic process] evidence: IBA
GeneID:6947 -> Biological process: GO:0009235 [cobalamin metabolic process] evidence: TAS
GeneID:6947 -> Biological process: GO:0015889 [cobalamin transport] evidence: IEA
GeneID:6947 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:6947 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
by
@meso_cacase at
DBCLS
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