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FAM127C Gene

protein-coding   GIFtS: 33
GCID: GC0XM134154

Family With Sequence Similarity 127, Member C

  Search for FAM127C
at  

(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
Family With Sequence Similarity 127, Member C1 2
Mammalian Retrotransposon Derived Protein 8B2 3
MAR8B2 3
CXX1c2
Protein FAM127C2
CXX1C3

External Ids:    HGNC: 331561   Entrez Gene: 4415182   Ensembl: ENSG000002127477   UniProtKB: Q17RB03   

Export aliases for FAM127C gene to outside databases

Previous GC identifers: GC0XM133984 GC0XM123549


(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 FAM127C Gene:
FAM127C (family with sequence similarity 127, member C) is a protein-coding gene. An important paralog of this gene is RGAG4.


(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:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM127C gene promoter:
         Elk-1   Nkx5-1   c-Ets-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM127C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM127C


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

FAM127C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM127C gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM134154:  view genomic region     (about GC identifiers)

Start:
134,154,534 bp from pter      End:
134,156,566 bp from pter
Size:
2,033 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F127C_HUMAN, Q17RB0 (See protein sequence)
Recommended Name: Protein FAM127C  
Size: 113 amino acids; 13246 Da

Explore the universe of human proteins at neXtProt for FAM127C: NX_Q17RB0

Explore proteomics data for FAM127C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9
  • Modification sites at PhosphoSitePlus

  • See FAM127C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001071641.1  
    ENSEMBL proteins: 
     ENSP00000375268  

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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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    ProtoNet protein and cluster: Q17RB0

    UniProtKB/Swiss-Prot: F127C_HUMAN, Q17RB0
    Similarity: Belongs to the FAM127 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM127C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM127C

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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 COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    peroxisome2
    cytosol1
    nucleus1

    (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 FAM127C
    Interactions:

        Search GeneGlobe Interaction Network for FAM127C

    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM127C (F127C)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM127C gene: 
    NM_001078173.1  

    Unigene Cluster for FAM127C:

    Family with sequence similarity 127, member C
    Hs.378813  [show with all ESTs]
    Unigene Representative Sequence: NM_001078173
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000391440(uc004eyc.1)
    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AK098443.1 BC048268.1 BC063496.1 BC073159.1 BC086860.1 BC113720.1 BC117393.1 

    3 DOTS entries:

    DT.95078706  DT.117281  DT.100812503 

    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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    FAM127C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCAGGG
    FAM127C Expression
    About this image

    FAM127C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM127C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.378813
        Custom PCR Arrays for FAM127C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM127C

    (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 human and mouse.

    Orthologs for FAM127C gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cxx1b5
    Cxx1a1
    CAAX box 1 homolog B (human)5
    CAAX box 1A1
    78.79(n)1
    72.73(a)1
      X (29.91 cM)5
    661581  NM_024170.21  NP_077132.11 
     536691775 


    ENSEMBL Gene Tree for FAM127C (if available)
    TreeFam Gene Tree for FAM127C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM127C gene
    RGAG42  LDOC1L2  LDOC12  FAM127B2  FAM127A2  
    6 SIMAP similar genes for FAM127C using alignment to 1 protein entry:     F127C_HUMAN:
    FAM127A    FAM127B    LDOC1    RTL1    PEG10    BOP

    FAM127C for paralogs           About GeneDecksing



    (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 FAM127C (see all 58)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1854074381,2
    --134154564(+) CAATTA/TAATGG 1 -- ut310--------
    rs1892878161,2
    --134154644(+) AGCCAA/GTTAAA 1 -- ut310--------
    rs735727441,2
    C,F--134154758(+) CAATTT/CTTCTG 1 -- ut311Minor allele frequency- C:0.00WA 2
    rs735727471,2
    C--134154841(+) CTACCC/TACATA 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1415558431,2
    --134154888(+) ATAATC/TCTGTT 1 -- ut310--------
    rs66546821,2
    C,F,H--134154908(+) AATCAT/CGGGTT 1 -- ut318Minor allele frequency- C:0.01NS EA NA CSA 517
    rs1385385621,2
    --134154976(+) ATTTGA/GGAATT 1 -- ut310--------
    rs1420303071,2
    C--134155073(+) GTAACA/GATTCA 1 -- ut310--------
    rs1506638021,2
    --134155095(+) GCTTGG/TGATAA 1 -- ut310--------
    rs1389075111,2
    --134155175(+) TACCAA/CAGGAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FAM127C (134154534 - 134156566 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FAM127C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483147CNV Loss15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM127C
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM127C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 FAM127C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM127C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals. (PubMed id 15716091)1, 3 Brandt J.... Volff J.-N. (Gene 2005)
    2. A low-copy repeat in Xq26 represents a novel putatively prenylated protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and DXS9916). (PubMed id 9403077)1, 3 Frattini A.... Vezzoni P. (Genomics 1997)
    3. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    7. A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes. (PubMed id 16093683)1 Brandt J.... Volff J.-N. (Cytogenet. Genome Res. 2005)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 441518 HGNC: 33156 Ensembl:ENSG00000212747 euGenes: HUgn441518 ECgene: FAM127C
    H-InvDB: FAM127C

    (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 FAM127C 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 FAM127C gene:
    Search GeneIP for patents involving FAM127C

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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     Browse SwitchGear Promoter luciferase reporter plasmids for FAM127C
     Search ThermoFisher Antibodies for FAM127C
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM127C
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM127C
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM127C
     LSBio Antibodies in human, mouse, rat for FAM127C
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     Tissue-specific gene expresssion
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     Browse compounds at ApexBio
           
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