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C19orf57 Gene

protein-coding   GIFtS: 45
GCID: GC19M013993          (predicted)

Chromosome 19 Open Reading Frame 57

  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)
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Aliases
Chromosome 19 Open Reading Frame 571 2
Pre-T/NK Cell-Associated Protein 3B32 3
Pre-T/NK Cell Associated Protein (3B3)2
Uncharacterized Protein C19orf572

External Ids:    HGNC: 281531   Entrez Gene: 791732   Ensembl: ENSG000001320167   UniProtKB: Q0VDD73   

Export aliases for C19orf57 gene to outside databases

Previous GC identifers: GC19M013855 GC19M013856 GC19M013564


(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 C19orf57 Gene:
C19orf57 (chromosome 19 open reading frame 57) is a protein-coding gene. Diseases associated with C19orf57 include meningitis, and choroiditis.


(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_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C19orf57 gene promoter:
         Pax-5   MyoD   Olf-1   MIF-1   YY1   AREB6   MZF-1   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C19orf57

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf57


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.12

C19orf57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf57 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M013993:  view genomic region     (about GC identifiers)

Start:
13,993,161 bp from pter      End:
14,017,265 bp from pter
Size:
24,105 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CS057_HUMAN, Q0VDD7 (See protein sequence)
Recommended Name: Uncharacterized protein C19orf57  
Size: 668 amino acids; 69556 Da
Sequence caution: Sequence=AAB02340.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q13411 Q8N825 Q96D63 Q9BU49
Alternative splicing: 2 isoforms:  Q0VDD7-1   Q0VDD7-2   

Explore the universe of human proteins at neXtProt for C19orf57: NX_Q0VDD7

Explore proteomics data for C19orf57 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C19orf57 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_077299.3  
    ENSEMBL proteins: 
     ENSP00000467241   ENSP00000465822   ENSP00000254336   ENSP00000466723   ENSP00000468467  
     ENSP00000464829   ENSP00000466119   ENSP00000404382  

    C19orf57 Human Recombinant Protein Products:

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    Novus Biologicals C19orf57 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C19orf57

    C19orf57 Antibody Products:

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    Abcam antibodies for C19orf57
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    C19orf57 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for C19orf57
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    Cloud-Clone Corp. ELISAs for C19orf57
    Cloud-Clone Corp. CLIAs for C19orf57


    (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: Q0VDD7


    (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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI16189514
         
    C19orf57 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C19orf57
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C19orf57
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C19orf57

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate C19orf57:
    hsa-miR-3688-3p hsa-miR-4279 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidC19orf57 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C19orf57

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: C19orf57 (NM_024323)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf57
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf57

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf57


    (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
    nucleus3
    cytosol2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    C19orf57 for ontologies           About GeneDecksing


    (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 C19orf57
    Interactions:

        Search GeneGlobe Interaction Network for C19orf57

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for C19orf57 (Q0VDD71, 3 ENSP000002543364) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AIMP2Q131551, 3, ENSP000002230294EBI-741210,EBI-745226 I2D: score=6 STRING: ENSP00000223029
    COPS4Q9BT781, 3, ENSP000002643894EBI-741210,EBI-742413 I2D: score=5 STRING: ENSP00000264389
    RABL6Q3YEC73, ENSP000003111344I2D: score=4 STRING: ENSP00000311134
    VCLP182063, ENSP000002119984I2D: score=4 STRING: ENSP00000211998
    CENPQQ7L2Z93, ENSP000003372894I2D: score=1 STRING: ENSP00000337289
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development NAS8228263

    C19orf57 for ontologies           About GeneDecksing



    (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 C19orf57 (CS057)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C19orf57 gene: 
    NM_024323.3  

    Unigene Cluster for C19orf57:

    Chromosome 19 open reading frame 57
    Hs.143288  [show with all ESTs]
    Unigene Representative Sequence: NM_024323
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588115 ENST00000586783 ENST00000346736(uc002mxl.1) ENST00000591586
    ENST00000586500 ENST00000591439 ENST00000589393 ENST00000585755 ENST00000454313(uc002mxk.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C19orf57 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate C19orf57:
    hsa-miR-3688-3p hsa-miR-4279 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidC19orf57 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C19orf57
    Predesigned siRNA for gene silencing in human, mouse, rat C19orf57
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    OriGene ORF clones in mouse, rat for C19orf57
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C19orf57 (NM_024323)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf57
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf57
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C19orf57
    OriGene qSTAR qPCR primer pairs in human, mouse for C19orf57
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C19orf57
      QuantiTect SYBR Green Assays in human, mouse, rat C19orf57
      QuantiFast Probe-based Assays in human, mouse, rat C19orf57

    Additional mRNA sequence: 

    AK097431.1 BC002891.2 BC012945.1 BC119718.2 BC119719.1 L17327.1 

    6 DOTS entries:

    DT.406237  DT.100738395  DT.100795303  DT.435926  DT.75163105  DT.111857 

    Selected AceView cDNA sequences (see all 35):

    NM_024323 AL539986 BC002891 CR601980 AK097431 AI475541 BX423571 AA084082 
    AL533678 BU621615 BI761493 BE794880 AA359456 L17327 BX463735 BE882367 
    BC012945 AL568154 BX463734 BI561302 BX111591 BU538061 AA758962 AL533677 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf57    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
    SP1:              -                                               -     -         
    SP2:                                            -     -                           
    SP3:                                                              -               
    SP4:                                                                              


    ECgene alternative splicing isoforms for C19orf57

    (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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    C19orf57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAACACAA
    C19orf57 Expression
    About this image


    C19orf57 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             XX Germ Cells Ovigerous Cord
             Ovigerous Cord
     
     Bone (Muscoskeletal System)
             Rib
     
     Gonad
             XX Germ Cells Ovigerous Cord
     
     Eye (Sensory Organs)
             Periocular Mesenchyme
    C19orf57 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C19orf57 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.143288
        Custom PCR Arrays for C19orf57
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf57

    (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 C19orf57 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930432K21Rik1 , 5 RIKEN cDNA 4930432K21 gene1, 5 62.89(n)1
    46.44(a)1
      8 (40.35 cM)5
    746661  NM_029045.21  NP_083321.21 
     841480255 


    ENSEMBL Gene Tree for C19orf57 (if available)
    TreeFam Gene Tree for C19orf57 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C19orf57 (see all 550)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487755281,2
    --13992736(+) GTAAAC/TTGGGG 1 -- ds50010--------
    rs1423843651,2
    --13992887(+) CAGCTC/TGTCCT 1 -- ds50010--------
    rs1131355211,2
    C,F--13992899(+) GAGGAT/CGGGCC 1 -- ds50012Minor allele frequency- C:0.10CSA WA 119
    rs104092411,2
    C,F,A,H--13992913(+) CCACCT/GGAGCG 1 -- ds500120Minor allele frequency- G:0.49NS NA WA CSA EA 1752
    rs1509594381,2
    C--13992973(+) CGACCC/TGCGTG 1 -- ds50010--------
    rs773569931,2
    F--13992976(+) CCCGCG/ATGTAT 1 -- ds50012Minor allele frequency- A:0.08CSA WA 120
    rs1819255241,2
    --13992991(+) AAGAGC/GCTGCA 1 -- ds50010--------
    rs1873751771,2
    --13993005(+) AGATGG/TGGGCA 1 -- ds50010--------
    rs1133730511,2
    C,F--13993024(+) CCCACC/TCCTGG 1 -- ds50012Minor allele frequency- T:0.09CSA WA 119
    rs1905442021,2
    --13993035(+) AGATTC/TGCCCC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for C19orf57 (13993161 - 14017265 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for C19orf57:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668513CNV Deletion23128226
    nsv911102CNV Loss21882294
    nsv833757CNV Loss17160897
    dgv3741n71CNV Loss21882294
    dgv3738n71CNV Loss21882294
    nsv833760CNV Loss17160897
    nsv911098CNV Loss21882294
    dgv3739n71CNV Loss21882294
    dgv3740n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C19orf57
    DNA2.0 Custom Variant and Variant Library Synthesis for C19orf57

    (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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    2 diseases for C19orf57:    
    About MalaCards
    meningitis    choroiditis


    C19orf57 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C19orf57

    Export disorders for C19orf57 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 C19orf57 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with C19orf57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human pre-T/NK cell-associated genes. (PubMed id 8228263)1, 2, 3 Ranes-Goldberg M.G.... Spits H. (J. Immunol. 1993)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. (PubMed id 23940030)1 Teixeira F.R....Gomes M.D. (J. Biol. Chem. 2013)
    4. 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)
    5. 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)
    6. Expanding the substantial interactome of NEMO using protein microarrays. (PubMed id 20098747)1 Fenner B.J....Prehn J.H. (PLoS ONE 2010)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    8. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    9. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. (PubMed id 17434096)4 MatarA-n M....Meschia J.F. (Lancet Neurol 2007)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (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: 79173 HGNC: 28153 AceView: MGC11271 Ensembl:ENSG00000132016 euGenes: HUgn79173
    ECgene: C19orf57 H-InvDB: C19orf57

    (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 C19orf57 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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