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CFC1B Gene

protein-coding   GIFtS: 35
GCID: GC02P131278

Cripto, FRL-1, Cryptic Family 1B

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cripto, FRL-1, Cryptic Family 1B1 2
Cryptic Family Protein 1B2

External Ids:    HGNC: 339831   Entrez Gene: 6532752   Ensembl: ENSG000001520937   UniProtKB: P0CG363   

Export aliases for CFC1B gene to outside databases

Previous GC identifer: GC02P130997


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CFC1B Gene:
CFC1B (cripto, FRL-1, cryptic family 1B) is a protein-coding gene. An important paralog of this gene is TDGF1.

Gene Wiki entry for CFC1B (Cripto) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFC1B gene promoter:
         Oct-B1   oct-B3   oct-B2   AML1a   Nkx2-2   C/EBPalpha   Evi-1   POU2F1   GATA-6   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CFC1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFC1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

CFC1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFC1B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P131278:  view genomic region     (about GC identifiers)

Start:
131,278,667 bp from pter      End:
131,285,579 bp from pter
Size:
6,913 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CFC1B_HUMAN, P0CG36 (See protein sequence)
Recommended Name: Cryptic family protein 1B precursor  
Size: 223 amino acids; 24642 Da
Caution: This gene differs from CFC1 by only one residue at position 78:R -> W. R78W is also thought to be a CFC1
polymorphism
Secondary accessions: B2RCY0 B9EJD3 Q53T05 Q9GZR3

Explore the universe of human proteins at neXtProt for CFC1B: NX_P0CG36

Explore proteomics data for CFC1B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn52

  • See CFC1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001072998.1  
    ENSEMBL proteins: 
     ENSP00000281882  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR019011 Cryptic/Cripto_CFC-dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry P0CG36

    ProtoNet protein and cluster: P0CG36

    UniProtKB/Swiss-Prot: CFC1B_HUMAN, P0CG36
    Similarity: Contains 1 EGF-like domain


    Find genes that share domains with CFC1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CFC1B           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CFC1B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CFC1B_HUMAN, P0CG36: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with CFC1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFC1B
    Interactions:

        Search GeneGlobe Interaction Network for CFC1B

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007369gastrulation IEA--

    Find genes that share ontologies with CFC1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for CFC1B



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CFC1B gene: 
    NM_001079530.1  

    Unigene Cluster for CFC1B:

    Cripto, FRL-1, cryptic family 1B
    Hs.503733  [show with all ESTs]
    Unigene Representative Sequence: NM_001079530
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000281882(uc002trl.1)
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    11 DOTS entries:

    DT.120981469  DT.120981526  DT.120981012  DT.120981442  DT.97833321  DT.111026  DT.120981140  DT.70105380 
    DT.120981189  DT.100812210  DT.95095721 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFC1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCGCAAA
    CFC1B Expression
    About this image


    CFC1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Lung (Respiratory System)
     
     Pancreas (Endocrine System)
    CFC1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFC1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503733
        Custom PCR Arrays for CFC1B
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CFC1B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfc11 cripto, FRL-1, cryptic family 1 65.5(n)
    54.39(a)
      12627  NM_007685.2  NP_031711.1 
    chicken
    (Gallus gallus)
    Aves CFC1B1 cripto, FRL-1, cryptic family 1B 51.43(n)
    41.06(a)
      395437  NM_204700.2  NP_990031.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    31(a)
    1 → many
    2(39802641-39806113)
    zebrafish
    (Danio rerio)
    Actinopterygii oep6
    one-eyed pinhead
    29(a)
    1 → many
    10(1983898-1990349) ENSDARG00000035095


    ENSEMBL Gene Tree for CFC1B (if available)
    TreeFam Gene Tree for CFC1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFC1B gene
    CFC11 2  TDGF12  
    1 SIMAP similar gene for CFC1B using alignment to 1 protein entry:     CFC1B_HUMAN:
    CFC1

    Find genes that share paralogs with CFC1B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFC1B (see all 13)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907272151,2
    --131279681(+) CTCCCA/CTACTC 2 P syn10--------
    rs1825081741,2
    --131279688(+) ACTCCC/TGGGCT 2 R W mis10--------
    rs2001594651,2
    --131280812(+) TCGGGA/GCCCTG 2 T A mis10--------
    rs1862527111,2
    --131281393(+) AGGCCC/TGGGTG 1 -- int10--------
    rs1906485101,2
    --131281827(+) TCCCCC/GCCTGC 1 -- int10--------
    rs1829069251,2
    --131283471(+) CTCTGC/GGGGTC 1 -- int10--------
    rs1505962211,2
    C--131284174(+) ACAGCC/TTACCT 1 -- int10--------
    rs1872051221,2
    --131285007(+) CTGTTC/GTTCGT 1 -- int10--------
    rs798280601,2
    F--131286031(+) GTTCAC/TGAGCC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1148656271,2
    F--131286047(+) GACACA/GATTAC 1 -- int11Minor allele frequency- G:0.27WA 118

    HapMap Linkage Disequilibrium report for CFC1B (131278667 - 131285579 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CFC1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428403CNV Loss18775914
    nsv875103CNV Gain21882294
    dgv1247e1CNV Complex17122850
    dgv1250e1CNV Complex17122850
    nsv7327OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CFC1B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CFC1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    2. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 653275 HGNC: 33983 Ensembl:ENSG00000152093 euGenes: HUgn653275 ECgene: CFC1B
    H-InvDB: CFC1B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CFC1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFC1B gene:
    Search GeneIP for patents involving CFC1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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