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

C19orf53 Gene

protein-coding   GIFtS: 42
GCID: GC19P013885

Chromosome 19 Open Reading Frame 53

  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
Chromosome 19 Open Reading Frame 531 2
Leydig Cell Tumor 10 KDa Protein Homolog1 2
LYDG102

External Ids:    HGNC: 249911   Entrez Gene: 289742   Ensembl: ENSG000001049797   UniProtKB: Q9UNZ53   

Export aliases for C19orf53 gene to outside databases

Previous GC identifers: GC19P013747 GC19P013456


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

GeneCards Summary for C19orf53 Gene: 
C19orf53 (chromosome 19 open reading frame 53) is a protein-coding gene. Diseases associated with C19orf53 include leydig cell tumor, and hypercalcemia.

UniProtKB/Swiss-Prot: L10K_HUMAN, Q9UNZ5
Function: May have a potential role in hypercalcemia of malignancy (By similarity)




(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_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C19orf53 gene promoter:
         AhR   RFX1   RP58   AML1a   Arnt   AREB6   E2F   E2F-1   Zic3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC19orf53 promoter sequence
   Search SABiosciences Chromatin IP Primers for C19orf53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf53


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

C19orf53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf53 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P013885:  view genomic region     (about GC identifiers)

Start:
13,884,982 bp from pter      End:
13,889,587 bp from pter
Size:
4,606 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: L10K_HUMAN, Q9UNZ5 (See protein sequence)
Recommended Name: Leydig cell tumor 10 kDa protein homolog  
Size: 99 amino acids; 10577 Da
Secondary accessions: B2R4J9

Explore the universe of human proteins at neXtProt for C19orf53: NX_Q9UNZ5

Explore proteomics data for C19orf53 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UNZ5

  • C19orf53 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C19orf53 Protein Expression
    REFSEQ proteins: NP_054766.1  
    ENSEMBL proteins: 
     ENSP00000465432   ENSP00000221576   ENSP00000466736   ENSP00000464785   ENSP00000464891  
     ENSP00000468676  

    Human Recombinant Protein Products for C19orf53: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019034 UPF0390

    Graphical View of Domain Structure for InterPro Entry Q9UNZ5

    ProtoNet protein and cluster: Q9UNZ5

    UniProtKB/Swiss-Prot: L10K_HUMAN, Q9UNZ5
    Similarity: Belongs to the UPF0390 family


    C19orf53 for domains           About GeneDecksing


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: L10K_HUMAN, Q9UNZ5
    Function: May have a potential role in hypercalcemia of malignancy (By similarity)

    Phenotypes:
         3 GenomeRNAi human phenotypes for C19orf53:

     Actin fiber cells  Increased G2M DNA content  Increased cell number in G2M,  

    Animal Models:
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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 C19orf53

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for C19orf53 (Q9UNZ53 ENSP000002215764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    KNCNENSP000003796074STRING: ENSP00000379607
    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 C19orf53 (L10K)

    Search CenterWatch for drugs/clinical trials and news about C19orf53 / L10K

    (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 C19orf53 gene: 
    NM_014047.2  

    Unigene Cluster for C19orf53:

    Chromosome 19 open reading frame 53
    Hs.231616  [show with all ESTs]
    Unigene Representative Sequence: BU185894
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588234 ENST00000221576(uc002mxg.3) ENST00000588858 ENST00000588841
    ENST00000592760 ENST00000593274
    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of C19orf53 
    Primer
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    OriGene qPCR primer pairs and template standards for C19orf53
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C19orf53
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C19orf53

    Additional mRNA sequence: 

    AF078852.1 AF086483.1 AK311855.1 BC015465.2 

    11 DOTS entries:

    DT.447837  DT.100059302  DT.91946836  DT.95357547  DT.95357559  DT.91790505  DT.97856461  DT.100662988 
    DT.121471238  DT.121471256  DT.91767303 

    24/318 AceView cDNA sequences (see all 318):

    AW849317 F31995 CD675397 BM702712 CB160591 F34733 CB126428 AW849320 
    BF740057 BU190260 CB110566 CB124310 AI471074 AI422733 CA950633 AI351238 
    BQ682465 BM991551 BX096733 CB124066 AI360213 AJ705959 F32324 BU628189 

    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

    C19orf53 expression in normal human tissues (normalized intensities)      C19orf53 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGTGGTGAT
    C19orf53 Expression
    About this image


    C19orf53 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   

    See C19orf53 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C19orf53

    SOURCE GeneReport for Unigene cluster: Hs.231616
        SABiosciences Custom PCR Arrays for C19orf53
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C19orf53
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf53

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for C19orf53 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D8Ertd738e1 , 5 DNA segment, Chr 8, ERATO Doi 738, expressed1, 5 78.37(n)1
    81.91(a)1
      8 (40.72 cM)5
    1019661  NM_001007571.21  NP_001007572.11 
     842462375 
    lizard
    (Anolis carolinensis)
    Reptilia C19ORF536
    Uncharacterized protein
    66(a)
    1 ↔ 1
    2(29041806-29048114)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ093892.12   -- 77.55(n)    BJ093892.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1368641 zgc:136864 60.3(n)
    62.92(a)
      677749  NM_001040044.1  NP_001035133.1 


    ENSEMBL Gene Tree for C19orf53 (if available)
    TreeFam Gene Tree for C19orf53 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C19orf53 gene

    C19orf53 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C19orf53
    PGOHUM00000238922


    (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

    10/158 SNPs in C19orf53 are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0537834
    ----see VAR_0537832 K R mis40--------
    rs1387679751,2
    C--13885612(+) CCCGGA/GGATCA 1 -- int10--------
    rs22877521,2
    C,F,A,H--13885614(-) ACTGAT/CCCCCG 1 -- int110Minor allele frequency- C:0.42EA WA NA CSA 1870
    rs1418087331,2
    --13885631(+) AGAGGG/TTGGAT 1 -- int10--------
    rs1507725661,2
    --13885775(+) AGAGAC/TGAAAT 1 -- int10--------
    rs739227551,2
    C,F--13885780(+) TGAAAT/ACTGGA 1 -- int12Minor allele frequency- A:0.12WA 120
    rs133469831,2
    C,F--13885809(+) CACAGG/AGATCG 1 -- int14Minor allele frequency- A:0.23WA CSA 124
    rs49261671,2
    C,F--13885876(+) TTCCTT/GGTGCA 1 -- int1 trp38Minor allele frequency- G:0.36NA WA CSA EA 368
    rs1391422791,2
    C--13885939(+) CCTGCA/GGCCCA 1 -- int10--------
    rs1807415411,2
    --13885955(+) GGTTCC/TAATAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for C19orf53 (13884982 - 13889587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C19orf53:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833757CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (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
    2 diseases for C19orf53:    About MalaCards
    leydig cell tumor    hypercalcemia


    C19orf53 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C19orf53 (1 document)

    Export disorders for C19orf53 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 C19orf53 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with C19orf53)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    2. 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)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (2005)
    8. Nucleolar proteome dynamics. (PubMed id 15635413)1 Andersen J.S....Mann M. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (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. (2002)

    (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: 28974 HGNC: 24991 AceView: HSPC023 Ensembl:ENSG00000104979 euGenes: HUgn28974
    ECgene: C19orf53 H-InvDB: C19orf53

    (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 C19orf53 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 C19orf53 gene:
    Search GeneIP for patents involving C19orf53

    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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