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2024-03-28 18:20:05, 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:

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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