LOCUS       NM_005142               1511 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens cobalamin binding intrinsic factor (CBLIF), mRNA.
ACCESSION   NM_005142
VERSION     NM_005142.3
KEYWORDS    RefSeq; MANE Select.
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 1511)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1511)
  AUTHORS   Saultier,P., Loosveld,M., Benoist,J.F. and Michel,G.
  TITLE     Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF
            mutation
  JOURNAL   Br J Haematol 181 (3), 304 (2018)
   PUBMED   29368379
  REMARK    GeneRIF: Pancytopenia and megaloblastic erythropoiesis reveal a
            novel GIF mutation.
REFERENCE   3  (bases 1 to 1511)
  AUTHORS   Gueant-Rodriguez,R.M., Chery,C., Caillierez-Fofou,B.M., Voirin,J.,
            Foliguet,B., Josse,T., Tramoy,D., Feillet,F. and Gueant,J.L.
  TITLE     Association of combined GIF290T>C heterozygous mutation/FUT2
            secretor variant with neural tube defects
  JOURNAL   Clin Genet 93 (1), 191-193 (2018)
   PUBMED   28742214
  REMARK    GeneRIF: The gastric intrinsic factor (GIF) 290C
            heterozygous/fucosyltransferase 2 (secretor status included)
            protein (FUT2) rs601338 secretor variant combined genotype was
            indicated in 6 of the 37 neural tube defects (NTDs) fetuses.
REFERENCE   4  (bases 1 to 1511)
  AUTHORS   Li,K., Gesang,L., Dan,Z., Gusang,L., Dawa,C. and Nie,Y.
  TITLE     Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and
            1100-Fold Downregulation of GIF in the Patients with
            Polycythemia-Induced Gastric Injury
  JOURNAL   PLoS One 10 (10), e0140534 (2015)
   PUBMED   26485402
  REMARK    GeneRIF: the present findings reveal that High-altitude
            polycythemia -induced gastric mucosal lesion inspires the
            protection responses by up-regulating APOA4 and APOC3, and
            down-regulating GIF.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1511)
  AUTHORS   Chery,C., Hehn,A., Mrabet,N., Oussalah,A., Jeannesson,E.,
            Besseau,C., Alberto,J.M., Gross,I., Josse,T., Gerard,P.,
            Gueant-Rodriguez,R.M., Freund,J.N., Devignes,J., Bourgaud,F.,
            Peyrin-Biroulet,L., Feillet,F. and Gueant,J.L.
  TITLE     Gastric intrinsic factor deficiency with combined GIF heterozygous
            mutations and FUT2 secretor variant
  JOURNAL   Biochimie 95 (5), 995-1001 (2013)
   PUBMED   23402911
  REMARK    GeneRIF: study reports that FUT2 secretor variant influences GIF
            secretion in B12 deficient cases bearing GIF heterozygous
            mutations, in absence of H. pylori related gastritis
REFERENCE   6  (bases 1 to 1511)
  AUTHORS   Kozyraki,R., Kristiansen,M., Silahtaroglu,A., Hansen,C.,
            Jacobsen,C., Tommerup,N., Verroust,P.J. and Moestrup,S.K.
  TITLE     The human intrinsic factor-vitamin B12 receptor, cubilin: molecular
            characterization and chromosomal mapping of the gene to 10p within
            the autosomal recessive megaloblastic anemia (MGA1) region
  JOURNAL   Blood 91 (10), 3593-3600 (1998)
   PUBMED   9572993
  REMARK    Erratum:[Blood 1998 Oct 1;92(7):2608]
REFERENCE   7  (bases 1 to 1511)
  AUTHORS   Howard,T.A., Misra,D.N., Grove,M., Becich,M.J., Shao,J.S.,
            Gordon,M. and Alpers,D.H.
  TITLE     Human gastric intrinsic factor expression is not restricted to
            parietal cells
  JOURNAL   J Anat 189 (Pt 2) (Pt 2), 303-313 (1996)
   PUBMED   8886952
REFERENCE   8  (bases 1 to 1511)
  AUTHORS   Hewitt,J.E., Gordon,M.M., Taggart,R.T., Mohandas,T.K. and
            Alpers,D.H.
  TITLE     Human gastric intrinsic factor: characterization of cDNA and
            genomic clones and localization to human chromosome 11
  JOURNAL   Genomics 10 (2), 432-440 (1991)
   PUBMED   2071148
REFERENCE   9  (bases 1 to 1511)
  AUTHORS   Wahlstedt,V. and Grasbeck,R.
  TITLE     Cobalamin-binding proteins in human urine: identification and
            quantitation
  JOURNAL   J Lab Clin Med 106 (4), 439-446 (1985)
   PUBMED   4045300
REFERENCE   10 (bases 1 to 1511)
  AUTHORS   Katz,M., Lee,S.K. and Cooper,B.A.
  TITLE     Vitamin B 12 malabsorption due to a biologically inert intrinsic
            factor
  JOURNAL   N Engl J Med 287 (9), 425-429 (1972)
   PUBMED   5044916
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC037958.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005142.2.
            
            Summary: This gene is a member of the cobalamin transport protein
            family. It encodes a glycoprotein secreted by parietal cells of the
            gastric mucosa and is required for adequate absorption of vitamin
            B12. Vitamin B12 is necessary for erythrocyte maturation and
            mutations in this gene may lead to congenital pernicious anemia.
            [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 :: BC037958.1, X76562.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257248.3/ ENSP00000257248.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1511              BC037958.1         3-1513
FEATURES             Location/Qualifiers
     source          1..1511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1511
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /note="cobalamin binding intrinsic factor"
                     /db_xref="GeneID:2694"
                     /db_xref="HGNC:HGNC:4268"
                     /db_xref="MIM:609342"
     exon            1..125
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..1300
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /note="intrinsic factor; gastric intrinsic factor (vitamin
                     B synthesis)"
                     /codon_start=1
                     /product="cobalamin binding intrinsic factor precursor"
                     /protein_id="NP_005133.2"
                     /db_xref="CCDS:CCDS7977.1"
                     /db_xref="GeneID:2694"
                     /db_xref="HGNC:HGNC:4268"
                     /db_xref="MIM:609342"
                     /translation="MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLME
                     NSVTSSAYPNPSILIAMNLAGAYNLKAQKLLTYQLMSSDNNDLTIGQLGLTIMALTSS
                     CRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKT
                     LLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNG
                     IIGDIYSTGLAMQALSVTPEPSKKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLK
                     GKTYLDVPQVTCSPDHEVQPTLPSNPGPGPTSASNITVIYTINNQLRGVELLFNETIN
                     VSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGV
                     TPLNEGVADYIPFNHEHITANFTQY"
     exon            126..302
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            303..416
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            417..557
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            558..739
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            740..917
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1119
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1238
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1511
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /note="hexamer: AATAAA"
     polyA_site      1511
                     /gene="CBLIF"
                     /gene_synonym="GIF; IF; IFMH; INF; TCN3"
                     /note="major polyA site"
ORIGIN      
        1 gcaaatcgcg gtacctgtgg atgagagaca tagacgagag agtgagatgg cctggtttgc
       61 cctctacctc ctgagccttc tctgggctac agctgggact agtacccaga cccagagttc
      121 atgctccgtt ccctcagcac aggagccctt ggtcaatgga atacaagtac tcatggagaa
      181 ctcggtgact tcatcagcct acccaaaccc cagcatcctg attgccatga atctggccgg
      241 agcctacaac ttgaaggccc agaagctcct gacttaccag ctcatgtcca gcgacaacaa
      301 cgatctaacc attgggcagc tcggcctcac catcatggcc ctcacctcct cctgccgaga
      361 ccctggggat aaagtatcca ttctacaaag acaaatggag aactgggcac cttccagccc
      421 caacgctgaa gcatcagcct tctatgggcc cagtctagcg atcttggcac tgtgccagaa
      481 gaactctgag gcgaccttgc cgatagccgt ccgctttgcc aagaccctgc tggccaactc
      541 ctctcccttc aatgtagaca caggagcaat ggcaaccttg gctctgacct gtatgtacaa
      601 caagatccct gtaggttcag aggaaggtta cagatccctg tttggtcagg tactaaagga
      661 tattgtggag aaaatcagca tgaagatcaa agataatggc atcattggag acatctacag
      721 tactggcctc gccatgcagg ctctctctgt aacacctgag ccatctaaaa aggaatggaa
      781 ctgcaagaag actacggata tgatactcaa tgagattaag caggggaaat tccacaaccc
      841 catgtccatt gctcaaatcc tcccttccct gaaaggcaag acatacctag atgtgcccca
      901 ggtcacttgt agtcctgatc atgaggtaca accaactcta cccagcaacc ctggccctgg
      961 ccccacctct gcatctaaca tcactgtcat atacaccata aataaccagc tgaggggggt
     1021 tgagctgctc ttcaacgaga ccatcaatgt tagtgtgaaa agtgggtcag tgttacttgt
     1081 tgtcctagag gaagcacagc gcaaaaatcc tatgttcaaa tttgaaacca caatgacatc
     1141 ttggggcctt gtcgtctctt ctatcaacaa tatcgcggaa aatgttaatc acaagacata
     1201 ctggcagttt cttagtggtg taacaccttt gaatgaaggg gttgctgact acataccctt
     1261 caaccacgag cacatcacag ccaatttcac acagtactaa cgaagaggtg ggttcagctt
     1321 ctatcaaaca tctccaaagg atgggtgaaa ttttttccac ttcattttaa atctatgcaa
     1381 aaaagcgaat gcctgtgatg ctaccatatt cctggtaaaa acatggagaa ccactatgta
     1441 gaataaaaat gcaaagttca ctggagtctc aacatctatg actcatgaaa ataaaatttt
     1501 catcttctca a
//
