LOCUS       NM_032545               1672 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens cryptic, EGF-CFC family member 1 (CFC1), transcript
            variant 1, mRNA.
ACCESSION   NM_032545
VERSION     NM_032545.4
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 1672)
  AUTHORS   Chikaraishi,K., Takenobu,H., Sugino,R.P., Mukae,K., Akter,J.,
            Haruta,M., Kurosumi,M., Endo,T.A., Koseki,H., Shimojo,N., Ohira,M.
            and Kamijo,T.
  TITLE     CFC1 is a cancer stemness-regulating factor in neuroblastoma
  JOURNAL   Oncotarget 8 (28), 45046-45059 (2017)
   PUBMED   28620148
  REMARK    GeneRIF: The knockdown and overexpression of CFC1 were performed
            using a lentiviral system in NB cell lines. The overexpression of
            CFC1 increased sphere formation, cell growth, and colony formation.
REFERENCE   2  (bases 1 to 1672)
  AUTHORS   Gupta,K., Pilli,V.S. and Aradhyam,G.K.
  TITLE     Left-right axis asymmetry determining human Cryptic gene is
            transcriptionally repressed by Snail
  JOURNAL   BMC Dev Biol 16 (1), 39 (2016)
   PUBMED   27793090
  REMARK    GeneRIF: Results demonstrated that over expression of Snail
            suppresses Cryptic expression and confirmed that Snail directly
            binds to Cryptic gene promoter and regulates its expression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1672)
  AUTHORS   Zhang,D.M., Bao,Y.L., Yu,C.L., Wang,Y.M. and Song,Z.B.
  TITLE     Cripto-1 modulates macrophage cytokine secretion and phagocytic
            activity via NF-kappaB signaling
  JOURNAL   Immunol Res 64 (1), 104-114 (2016)
   PUBMED   26476731
  REMARK    GeneRIF: enhances macrophage phagocytic activity and upregulates
            the production of anti- and pro-inflammatory cytokines via the
            NF-kappaB signaling pathway
REFERENCE   4  (bases 1 to 1672)
  AUTHORS   Cao,R., Long,F., Wang,L., Xu,Y., Guo,Y., Li,F., Chen,S., Sun,K. and
            Xu,R.
  TITLE     Duplication and deletion of CFC1 associated with heterotaxy
            syndrome
  JOURNAL   DNA Cell Biol 34 (2), 101-106 (2015)
   PUBMED   25423076
  REMARK    GeneRIF: Data indicate that the duplication and deletion of CFC1
            protein may play key roles in the occurrence of heterotaxy
            syndrome.
REFERENCE   5  (bases 1 to 1672)
  AUTHORS   Ravisankar,V., Singh,T.P. and Manoj,N.
  TITLE     Molecular evolution of the EGF-CFC protein family
  JOURNAL   Gene 482 (1-2), 43-50 (2011)
   PUBMED   21640172
REFERENCE   6  (bases 1 to 1672)
  AUTHORS   Belmont,J.W., Mohapatra,B., Towbin,J.A. and Ware,S.M.
  TITLE     Molecular genetics of heterotaxy syndromes
  JOURNAL   Curr Opin Cardiol 19 (3), 216-220 (2004)
   PUBMED   15096953
  REMARK    Review article
REFERENCE   7  (bases 1 to 1672)
  AUTHORS   Goldmuntz,E., Bamford,R., Karkera,J.D., dela Cruz,J., Roessler,E.
            and Muenke,M.
  TITLE     CFC1 mutations in patients with transposition of the great arteries
            and double-outlet right ventricle
  JOURNAL   Am J Hum Genet 70 (3), 776-780 (2002)
   PUBMED   11799476
  REMARK    GeneRIF: CFC1 mutations in patients with transposition of the great
            arteries and double-outlet right ventricle
REFERENCE   8  (bases 1 to 1672)
  AUTHORS   Bamford,R.N., Roessler,E., Burdine,R.D., Saplakoglu,U., dela
            Cruz,J., Splitt,M., Goodship,J.A., Towbin,J., Bowers,P.,
            Ferrero,G.B., Marino,B., Schier,A.F., Shen,M.M., Muenke,M. and
            Casey,B.
  TITLE     Loss-of-function mutations in the EGF-CFC gene CFC1 are associated
            with human left-right laterality defects
  JOURNAL   Nat Genet 26 (3), 365-369 (2000)
   PUBMED   11062482
  REMARK    Erratum:[Nat Genet 2000 Dec;26(4):501]
REFERENCE   9  (bases 1 to 1672)
  AUTHORS   Shen,M.M. and Schier,A.F.
  TITLE     The EGF-CFC gene family in vertebrate development
  JOURNAL   Trends Genet 16 (7), 303-309 (2000)
   PUBMED   10858660
  REMARK    Review article
REFERENCE   10 (bases 1 to 1672)
  AUTHORS   Alonso,S., Pierpont,M.E., Radtke,W., Martinez,J., Chen,S.C.,
            Grant,J.W., Dahnert,I., Taviaux,S., Romey,M.C., Demaille,J. et al.
  TITLE     Heterotaxia syndrome and autosomal dominant inheritance
  JOURNAL   Am J Med Genet 56 (1), 12-15 (1995)
   PUBMED   7747776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315326.1, AF312769.1,
            CA948246.1 and BI793242.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_032545.3.
            
            Summary: This gene encodes a member of the epidermal growth factor
            (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved
            in signalling during embryonic development. Proteins in this family
            share a variant EGF-like motif, a conserved cysteine-rich domain,
            and a C-terminal hydrophobic region. The protein encoded by this
            gene is necessary for patterning the left-right embryonic axis.
            Mutations in this gene are associated with defects in organ
            development, including autosomal visceral heterotaxy and congenital
            heart disease. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            
            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 :: AK315326.1, SRR18074969.1719869.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259216.6/ ENSP00000259216.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-242               AK315326.1         1-242
            243-1057            AF312769.1         1-815
            1058-1353           CA948246.1         168-463
            1354-1672           BI793242.1         44-362
FEATURES             Location/Qualifiers
     source          1..1672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     gene            1..1672
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /note="cryptic, EGF-CFC family member 1"
                     /db_xref="GeneID:55997"
                     /db_xref="HGNC:HGNC:18292"
                     /db_xref="MIM:605194"
     exon            1..311
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             289..960
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cryptic family protein 1; heterotaxy 2
                     (autosomal dominant); cripto, FRL-1, cryptic family 1"
                     /codon_start=1
                     /product="cryptic protein isoform 1 precursor"
                     /protein_id="NP_115934.1"
                     /db_xref="CCDS:CCDS2162.1"
                     /db_xref="GeneID:55997"
                     /db_xref="HGNC:HGNC:18292"
                     /db_xref="MIM:605194"
                     /translation="MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQ
                     KHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSF
                     CVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPK
                     DFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPG
                     LGHRL"
     exon            312..361
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     exon            362..535
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     exon            536..650
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     exon            651..760
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     exon            761..1672
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1035..1040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /note="hexamer: AATAAA"
     polyA_site      1058
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /note="major polyA site"
     regulatory      1651..1656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /note="hexamer: AATAAA"
     polyA_site      1672
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
ORIGIN      
        1 agtccccacc ccccagccag gtctcataga gggaattgtt cttcaggctc ggaggggcct
       61 gcctgtcact gcgcccccga ccctagctca gggactgcag aactcaagat accatcccgt
      121 ttctcctggc tgaggaaggg aagggaacat ccacatcttc tgtactcgtc cattctgtgt
      181 ccccggggcc tggagtaaag acaccttcaa atgcagagac tcttcagatt cagctttcct
      241 ggaaactgat cttcaatgca ctaagagaag gagactctca aaccaaaaat gacctggagg
      301 caccatgtca ggcttctgtt tacggtcagt ttggcattac agatcatcaa tttgggaaac
      361 agctatcaaa gagagaaaca taacggcggt agagaggaag tcaccaaggt tgccactcag
      421 aagcaccgac agtcaccgct caactggacc tccagtcatt tcggagaggt gactgggagc
      481 gccgagggct gggggccgga ggagccgctc ccctactccc gggctttcgg agagggtgcg
      541 tccgcgcggc cgcgctgctg caggaacggc ggtacctgcg tgctgggcag cttctgcgtg
      601 tgcccggccc acttcaccgg ccgctactgc gagcatgacc agaggcgcag tgaatgcggc
      661 gccctggagc acggagcctg gaccctccgc gcctgccacc tctgcaggtg catcttcggg
      721 gccctgcact gcctccccct ccagacgcct gaccgctgtg acccgaaaga cttcctggcc
      781 tcccacgctc acgggccgag cgccgggggc gcgcccagcc tgctactctt gctgccctgc
      841 gcactcctgc accgcctcct gcgcccggat gcgcccgcgc accctcggtc cctggtccct
      901 tccgtcctcc agcgggagcg gcgcccctgc ggaaggccgg gacttgggca tcgcctttaa
      961 ttttctatgt tgtaaataat agatgtgttt agtttaccgt aagctgaagc actgggtgaa
     1021 tatttttatt gggtaataaa tattttcatg aaagcgcctt tggctccaga tccttgggag
     1081 agggacacgt gtgtccccag caccactgtg accggtaggt agagacagca gaacaacagc
     1141 gagaaggagc caaagctgga gccagaaagc ctggcaccgc caccttcccc tgacagttag
     1201 caccttcctt tcacaacatc tcccttaagg gggaagcgtc tgctgtggaa cccaccgcaa
     1261 ggcaacgcag gcagagttca gcctgaagag cgccaggcca gcctcctctg tcttccgagc
     1321 accgcttctc aggtcgcttc ccaatctgag gaggctgtcg tgtccacaac cagtccaggg
     1381 ggatgtgcgc cactagctga ggacgccagg cccggcgaca ccacaaaggc ttggccatgc
     1441 ggaatgtgcc ctcaagagca cacacttcgg gtagagggca cttgcattga gctcttcagc
     1501 tttttaaatc cactgtagtt catgagcctg tgtgacataa ttacttttac attttatatt
     1561 gtcaattagt ttattggcat tttcaatctt ttcaactatt ggctatgaaa atatgaattt
     1621 aacgtaacat tcaaatgagt attaaagaaa aataaagtag aacttcatta ga
//
