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FAM127A Gene

protein-coding   GIFtS: 45
GCID: GC0XP134166

Family With Sequence Similarity 127, Member A

(Previous name: CAAX box 1)
(Previous symbol: CXX1)
  Search for FAM127A
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 A1 2     Mar82
CXX11 2 3 5     Mart82
CAAX Box 11 2     Protein FAM127A2
Mammalian Retrotransposon Derived Protein 8C2 3     MAR83
MAR8C2 3     MART83
MART8C2     Cerebral Protein 53

External Ids:    HGNC: 25691   Entrez Gene: 89332   Ensembl: ENSG000001345907   OMIM: 3002135   UniProtKB: O152553   
UniProtKB: A6ZKI33   

Export aliases for FAM127A gene to outside databases

Previous GC identifers: GC0XP133995 GC0XP123560


(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 FAM127A Gene:
FAM127A (family with sequence similarity 127, member A) is a protein-coding gene. An important paralog of this gene is FAM127C.

Gene Wiki entry for FAM127A 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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM127A gene promoter:
         Elk-1   Nkx5-1   c-Ets-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM127A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM127A


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

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

FAM127A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM127A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP134166:  view genomic region     (about GC identifiers)

Start:
134,166,333 bp from pter      End:
134,167,576 bp from pter
Size:
1,244 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., 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: CXX1_HUMAN, O15255 (See protein sequence)
Recommended Name: CAAX box protein 1 precursor  
Size: 209 amino acids; 22278 Da
Caution: There seems to be two proteins encoded by the FAM127A gene, one with a C-terminal CAAX box (the sequence
shown here) and a smaller protein (AC A6ZKI3)
Secondary accessions: Q6IBF1

UniProtKB/Swiss-Prot: F127A_HUMAN, A6ZKI3 (See protein sequence)

Recommended Name: Protein FAM127A  
Size: 113 amino acids; 13171 Da
Caution: There seems to be two proteins that can be transcribed from FAM127A, one with a C-terminal CAAX box (AC
O15255) and a smaller protein (the sequence shown here) that seems to be encoded by a multicopy gene originating
from a retrotransposon

Explore the universe of human proteins at neXtProt for FAM127A: NX_A6ZKI3

Explore proteomics data for FAM127A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys86
  • Modification sites at PhosphoSitePlus

  • See FAM127A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001071639.1  
    ENSEMBL proteins: 
     ENSP00000257013  

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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: O15255

    UniProtKB/Swiss-Prot: F127A_HUMAN, A6ZKI3
    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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM127A
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    miRTarBase miRNAs that target FAM127A:
    hsa-mir-877-5p (MIRT037349), hsa-mir-423-5p (MIRT038029), hsa-mir-196a-5p (MIRT026081)

    Block miRNA regulation of human, mouse, rat FAM127A using miScript Target Protectors
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    hsa-miR-142-3p hsa-miR-4254 hsa-miR-196a hsa-miR-124 hsa-miR-196b hsa-miR-3919 hsa-miR-506 hsa-miR-892a
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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
    CXX1_HUMAN, O15255: Cell membrane; Lipid-anchor (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    extracellular1
    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 FAM127A
    Interactions:

        Search GeneGlobe Interaction Network for FAM127A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for FAM127A (O152551, 2, 3 ENSP000002570134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 3, ENSP000003614234EBI-954396,EBI-375543 I2D: score=1 STRING: ENSP00000361423
    HBP1O603812, 3, ENSP000002225744MINT-2865593 I2D: score=1 STRING: ENSP00000222574
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
    UBCENSP000003448184STRING: ENSP00000344818
    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
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    Browse Tocris compounds for FAM127A (F127A)



    (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 FAM127A gene (2 alternative transcripts): 
    NM_003928.1  NM_001078171.1  

    Unigene Cluster for FAM127A:

    Family with sequence similarity 127, member A
    Hs.522789  [show with all ESTs]
    Unigene Representative Sequence: BM808256
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495563 ENST00000464369 ENST00000257013(uc004eyd.3)
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate FAM127A:
    hsa-miR-142-3p hsa-miR-4254 hsa-miR-196a hsa-miR-124 hsa-miR-196b hsa-miR-3919 hsa-miR-506 hsa-miR-892a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Primer
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    OriGene qPCR primer pairs and template standards for FAM127A
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      QuantiTect SYBR Green Assays in human, mouse, rat FAM127A
      QuantiFast Probe-based Assays in human, mouse, rat FAM127A

    Additional mRNA sequence: 

    AF038168.1 AF052096.1 BC002385.2 BC002410.2 BC106076.1 CR456853.1 D88756.1 Y13374.1 

    8 DOTS entries:

    DT.117281  DT.100812503  DT.97860340  DT.100812499  DT.95363236  DT.121308288  DT.95078708  DT.100785137 

    Selected AceView cDNA sequences (see all 343):

    C16717 AW160989 BU625652 AF052096 CR623208 BM672027 AA031541 CD676235 
    BU192274 BQ639965 CR600327 AA716124 W76590 BQ962292 AI092787 F10943 
    CD367165 BG394241 BQ006648 D88756 BM696732 BQ023698 BF220132 T33442 

    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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    FAM127A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATTTGGA
    FAM127A Expression
    About this image


    FAM127A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Uterus (Reproductive System)
     
     Lung (Respiratory System)
     
     Ovary (Reproductive System)
     
     Adrenal Gland (Endocrine System)
    FAM127A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM127A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522789

    UniProtKB/Swiss-Prot: CXX1_HUMAN, O15255
    Tissue specificity: Ubiquitous


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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM127A

    (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 FAM127A gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cxx1c1 CAAX box 1C 73.57(n)
    65.77(a)
      72865  NM_028375.3  NP_082651.1 


    ENSEMBL Gene Tree for FAM127A (if available)
    TreeFam Gene Tree for FAM127A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM127A gene
    FAM127C2  RGAG42  LDOC1L2  LDOC12  FAM127B2  
    5 SIMAP similar genes for FAM127A using alignment to 2 protein entries:     CXX1_HUMAN (see all proteins):
    FAM127C    FAM127B    DKFZP564B147    LDOC1    RTL1

    Find genes that share paralogs with FAM127A           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 FAM127A (see all 53)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1486522451,2
    --134164391(+) GAAAGA/GGAGAT 1 -- us2k10--------
    rs1444080921,2
    C--134164392(+) AAAGAA/GAGATC 1 -- us2k10--------
    rs1478347621,2
    --134164986(+) CAATAC/TTGCTC 1 -- us2k10--------
    rs1851201501,2
    --134165049(+) CTTAAA/GCTTAA 1 -- us2k10--------
    rs24758541,2
    C,A--134165168(+) ataaaA/Tactga 1 -- us2k1 tfbs31Minor allele frequency- T:0.00WA 2
    rs1891845281,2
    C--134165230(+) TCCCCC/TGGGCC 1 -- us2k10--------
    rs2009672231,2
    --134165261(+) TTGTC-/TCTTCTTT 1 -- us2k10--------
    rs1454811181,2
    C--134165390(+) CAAGCA/GGCACT 1 -- us2k10--------
    rs1510297681,2
    --134165394(+) CGGCAC/GTGTTG 1 -- us2k10--------
    rs1930576221,2
    --134166019(+) GCTGCC/GGAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM127A (134166333 - 134167576 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FAM127A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483147CNV Loss15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM127A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM127A

    (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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    OMIM gene information: 300213    OMIM disorders: --


    Find genes that share disorders with FAM127A           About GenesLikeMe


    Export disorders for FAM127A gene to outside databases

    (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 FAM127A gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with FAM127A)
        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, 2, 3 Brandt J.... Volff J.-N. (Gene 2005)
    2. A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes. (PubMed id 16093683)1, 2, 3 Brandt J.... Volff J.-N. (Cytogenet. Genome Res. 2005)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. 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)
    6. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    7. 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)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 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: 8933 HGNC: 2569 AceView: CXX1 Ensembl:ENSG00000134590 euGenes: HUgn8933
    ECgene: FAM127A H-InvDB: FAM127A

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FAM127A 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 FAM127A gene:
    Search GeneIP for patents involving FAM127A

    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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    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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