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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM127A Gene

protein-coding   GIFtS: 42
GCID: GC0XP134166

Family With Sequence Similarity 127, Member A

(Previous name: CAAX box 1)
(Previous symbol: CXX1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM127A Gene: 
FAM127A (family with sequence similarity 127, member A) is a protein-coding gene. Diseases associated with FAM127A include fundus dystrophy, and von hippel-lindau disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM127A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CXX1_HUMAN, O15255 (See protein sequence)
Recommended Name: CAAX box protein 1 precursor  
Size: 209 amino acids; 22278 Da
Subcellular location: Cell membrane; Lipid-anchor (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6ZKI3

  • FAM127A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM127A Protein Expression
    REFSEQ proteins: NP_001071639.1  
    ENSEMBL proteins: 
     ENSP00000257013  

    Human Recombinant Protein Products for FAM127A: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM127A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM127A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM127A 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FAM127A (F127A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
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    8 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FAM127A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM127A
    Clone
    Products:
         
    OriGene clones in human, mouse for FAM127A (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAM127A (NM_001078171)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM127A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM127A
    Sirion Biotech Customized lentivirus for stable overexpression of FAM127A 
                         Customized lentivirus expression plasmids for stable overexpression of FAM127A 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FAM127A
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM127A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM127A
      QIAGEN 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 

    24/343 AceView cDNA sequences (see all 343):

    W76590 CF127571 CB852978 CF127452 BQ009998 AA555038 CR623551 AI252231 
    NM_003928 T33442 BM710608 AA716124 BM763063 AA359911 BQ006648 BI768563 
    AA031541 F10943 AW160989 BF220132 BF970621 D88756 AA864654 BE884138 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See FAM127A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM127A

    SOURCE GeneReport for Unigene cluster: Hs.522789

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


        SABiosciences Custom PCR Arrays for FAM127A
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    OriGene qPCR primer pairs and template standards for FAM127A
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM127A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM127A
    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)
    About This Section
      --

    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)
    About This Section
    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

    FAM127A 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/53 SNPs in FAM127A are shown (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

    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300213    OMIM disorders: --

    3 diseases for FAM127A:    About MalaCards
    fundus dystrophy    von hippel-lindau disease    cerebritis


    FAM127A for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for FAM127A gene, integrated from 9 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. (2005)
    2. A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes. (PubMed id 16093683)1, 2, 3 Brandt J....Volff J.N. (2005)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (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. (1997)
    6. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (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. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8933 HGNC: 2569 AceView: CXX1 Ensembl:ENSG00000134590 euGenes: HUgn8933
    ECgene: FAM127A H-InvDB: FAM127A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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