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FAM127B Gene

protein-coding   GIFtS: 43
GCID: GC0XM134184

Family With Sequence Similarity 127, Member B

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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
Family With Sequence Similarity 127, Member B1 2
Mammalian Retrotransposon Derived Protein 8A2 3
MAR8A2 3
CXX1b2
Protein FAM127B2
CXX1B3

External Ids:    HGNC: 245141   Entrez Gene: 260712   Ensembl: ENSG000002039507   UniProtKB: Q9BWD33   

Export aliases for FAM127B gene to outside databases

Previous GC identifer: GC0XM134014


(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 FAM127B Gene:
FAM127B (family with sequence similarity 127, member B) is a protein-coding gene. An important paralog of this gene is FAM127C.


(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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM127B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM127B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM127B


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

FAM127B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM127B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM134184:  view genomic region     (about GC identifiers)

Start:
134,184,962 bp from pter      End:
134,186,226 bp from pter
Size:
1,265 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: F127B_HUMAN, Q9BWD3 (See protein sequence)
Recommended Name: Protein FAM127B  
Size: 113 amino acids; 13188 Da
Secondary accessions: A2A2V9 Q8TBU2

Explore the universe of human proteins at neXtProt for FAM127B: NX_Q9BWD3

Explore proteomics data for FAM127B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys86
  • Modification sites at PhosphoSitePlus

  • See FAM127B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001071640.1  NP_001127793.1  

    ENSEMBL proteins: 
     ENSP00000375267  

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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: Q9BWD3

    UniProtKB/Swiss-Prot: F127B_HUMAN, Q9BWD3
    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, 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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    Phenotypes:
         4 GenomeRNAi human phenotypes for FAM127B:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Elongated cells 

    Animal Models:
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    hsa-mir-18a-5p (MIRT031313), hsa-mir-26b-5p (MIRT029839), hsa-mir-615-3p (MIRT039775), hsa-mir-320a (MIRT044851)

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    6 qRT-PCR Assays for microRNAs that regulate FAM127B:
    hsa-miR-196a hsa-miR-124 hsa-miR-330-5p hsa-miR-196b hsa-miR-326 hsa-miR-506
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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
    cytosol2
    mitochondrion2
    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 FAM127B
    Interactions:

        Search GeneGlobe Interaction Network for FAM127B

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for FAM127B (Q9BWD33 ENSP000003752674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=2 STRING: ENSP00000365576
    HSPB3Q129883I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    UBQLN2ENSP000003451954STRING: ENSP00000345195
    About this table

    (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 FAM127B (F127B)



    (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 FAM127B gene (3 alternative transcripts): 
    NM_015582.2  NM_001078172.1  NM_001134321.1  

    Unigene Cluster for FAM127B:

    Family with sequence similarity 127, member B
    Hs.460924  [show with all ESTs]
    Unigene Representative Sequence: NM_001078172
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518153 ENST00000370775(uc004eyf.3) ENST00000520964(uc004eyg.4)
    ENST00000522309
    miRNA
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    hsa-miR-196a hsa-miR-124 hsa-miR-330-5p hsa-miR-196b hsa-miR-326 hsa-miR-506
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AL117556.1 BC000393.2 BC008096.1 BC019300.1 BC071991.1 CR457123.1 CR542228.1 

    12 DOTS entries:

    DT.87078990  DT.121279037  DT.100790200  DT.121279048  DT.100038977  DT.100790203  DT.121279036  DT.87007687 
    DT.102844329  DT.95078660  DT.95078699  DT.95078661 

    Selected AceView cDNA sequences (see all 37):

    BM845251 AI679644 AI369299 AI536970 BM691822 BU729202 BU728681 BM707626 
    BI765262 BU196125 BI093923 AW361511 BM760076 BG030673 BC071991 BV201889 
    BM841831 BM841478 CD248631 W87391 BM695958 CA396243 BM843996 N30279 

    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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    FAM127B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCGTGGACG
    FAM127B Expression
    About this image


    FAM127B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
    FAM127B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM127B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460924
        Custom PCR Arrays for FAM127B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM127B

    (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 FAM127B gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cxx1c5 CAAX box 1 homolog C (human)   --   X (29.82 cM) 53608032 


    ENSEMBL Gene Tree for FAM127B (if available)
    TreeFam Gene Tree for FAM127B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM127B gene
    FAM127C2  RGAG42  LDOC1L2  LDOC12  FAM127A2  
    5 SIMAP similar genes for FAM127B using alignment to 2 protein entries:     F127B_HUMAN (see all proteins):
    FAM127A    FAM127C    LDOC1    RTL1    PEG10

    Find genes that share paralogs with FAM127B           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 FAM127B (see all 56)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1864528311,2
    --134184700(+) TTTTGA/GCATTG 2 -- int10--------
    rs1922113591,2
    C--134185378(+) ATGGCC/GATGGC 3 I M ut31 mis10--------
    rs1826690041,2
    --134185553(+) GGCTGA/GCAAAA 2 -- ut31 int10--------
    rs1877519531,2
    C--134185591(+) GCGGCC/TCAGGA 2 -- ut31 int10--------
    rs2017218341,2
    C--134185841(+) CATCTA/CGGCCA 3 E * stg1 int10--------
    rs24987761,2,,4
    C,F,A,H--134185997(+) GGAGCT/ACGTCT 4 /S /C mis1 ese311Minor allele frequency- A:0.24NS EA MN WA NA CSA 612
    rs1997082931,2
    C--134186131(+) CCCGAC/TCGTCC 4 D G mis10--------
    rs1912369211,2
    C--134186241(+) GACGGA/GCTGTG 2 -- us2k10--------
    rs22473431,2
    C,F,A,H--134186309(-) ACTAGT/CGACCA 2 -- us2k116Minor allele frequency- C:0.44NS EA NA WA 1983
    rs1485646841,2
    C--134186435(+) GCCAGC/TGGGGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM127B (134184962 - 134186226 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FAM127B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483147CNV Loss15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM127B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM127B

    (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 FAM127B gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with FAM127B)
        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. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. 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)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. 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)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    9. 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)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (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: 26071 HGNC: 24514 AceView: DKFZP564B147 Ensembl:ENSG00000203950 euGenes: HUgn26071
    ECgene: FAM127B H-InvDB: FAM127B

    (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 FAM127B 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 FAM127B gene:
    Search GeneIP for patents involving FAM127B

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM127B Predesigned siRNA for gene silencing in human, mouse, rat FAM127B
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     Custom PCR Arrays for FAM127B Search Chromatin IP Primers for FAM127B
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM127B
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     Search Addgene for plasmids for FAM127B
      Search eBioscience for proteins for FAM127B
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      eBioscience FlowRNA Probe Sets
           
    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

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