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

C6orf57 Gene

protein-coding   GIFtS: 44
GCID: GC06P071276

Chromosome 6 Open Reading Frame 57

  Search for C6orf57
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 6 Open Reading Frame 571 2
UPF0369 Protein C6orf572

External Ids:    HGNC: 209571   Entrez Gene: 1351542   Ensembl: ENSG000001540797   UniProtKB: Q5VUM13   

Export aliases for C6orf57 gene to outside databases

Previous GC identifers: GC06P071226 GC06P071272 GC06P071333 GC06P068474


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

GeneCards Summary for C6orf57 Gene: 
C6orf57 (chromosome 6 open reading frame 57) is a protein-coding 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_000006.11  NC_018917.2  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6orf57 gene promoter:
         Nkx3-1   GR   NCX/Ncx   GR-beta   Nkx3-1 v1   AREB6   FOXJ2 (long isoform)   FOXJ2   GR-alpha   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C6orf57

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf57


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q12

C6orf57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf57 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P071276:  view genomic region     (about GC identifiers)

Start:
71,276,620 bp from pter      End:
71,299,272 bp from pter
Size:
22,653 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: CF057_HUMAN, Q5VUM1 (See protein sequence)
Recommended Name: UPF0369 protein C6orf57 precursor  
Size: 108 amino acids; 12213 Da
Subcellular location: Secreted (Potential)
Secondary accessions: E1P532

Explore the universe of human proteins at neXtProt for C6orf57: NX_Q5VUM1

Explore proteomics data for C6orf57 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VUM1

  • C6orf57 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C6orf57 Protein Expression
    REFSEQ proteins: NP_660310.2  
    ENSEMBL proteins: 
     ENSP00000359505  

    Human Recombinant Protein Products for C6orf57: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005739mitochondrion IEA--

    C6orf57 for ontologies           About GeneDecksing



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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:
     IPR012875 DUF1674

    Graphical View of Domain Structure for InterPro Entry Q5VUM1

    ProtoNet protein and cluster: Q5VUM1

    1 Blocks protein domain: IPB012875 Protein of unknown function DUF1674

    UniProtKB/Swiss-Prot: CF057_HUMAN, Q5VUM1
    Similarity: Belongs to the UPF0369 family


    C6orf57 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

    Phenotypes:
         1 GenomeRNAi human phenotype for C6orf57:
     Increased HPV18 LCR reporter a 

    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 C6orf57

    (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 C6orf57 (CF057)

    Search CenterWatch for drugs/clinical trials and news about C6orf57 / CF057

    (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,
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    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 C6orf57 gene: 
    NM_145267.2  

    Unigene Cluster for C6orf57:

    Chromosome 6 open reading frame 57
    Hs.418495  [show with all ESTs]
    Unigene Representative Sequence: BU598152
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468640 ENST00000370474(uc003pfq.1)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6orf57
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6orf57

    Additional mRNA sequence: 

    BC018085.1 BC104649.1 

    4 DOTS entries:

    DT.95368296  DT.92419498  DT.100741951  DT.75197566 

    24/42 AceView cDNA sequences (see all 42):

    BM142223 AI383596 BM142334 AI089178 AI950532 AW054719 CK820153 BM685163 
    AW195530 BM932161 AI344488 AI300847 AI769717 AI347649 AA532643 BC018085 
    NM_145267 AA553900 BX115326 AI038324 CF597237 BG703280 AA741040 AV760803 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf57    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
    SP1:                          -         
    SP2:              -                     
    SP3:              -           -         


    ECgene alternative splicing isoforms for C6orf57

    (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

    C6orf57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCCATCGA
    C6orf57 Expression
    About this image


    See C6orf57 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf57

    SOURCE GeneReport for Unigene cluster: Hs.418495
        SABiosciences Custom PCR Arrays for C6orf57
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf57

    (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 animals.

    Orthologs for C6orf57 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110058L19Rik1 , 5 RIKEN cDNA 1110058L19 gene1, 5 80.37(n)1
    78.89(a)1
      1 (9.86 cM)5
    680021  NM_026503.31  NP_080779.21 
     239959395 
    chicken
    (Gallus gallus)
    Aves C3H6orf571 chromosome 3 open reading frame, human C6orf57 69.6(n)
    65.93(a)
      421870  XM_001234194.2  XP_001234195.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    52(a)
    50(a)
    many → 1
    many → 1
    1(167669810-167671613)
    5(133324930-133325253)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.169252 Transcribed sequence with weak similarity to protein more 83.19(n)    BM005459.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72246
    CG152836
    --
    31(a)
    29(a)
    many → 1
    many → 1
    2L(7998934-7999743)
    2L(14450282-14450922)
    worm
    (Caenorhabditis elegans)
    Secernentea W02D3.126
    Protein W02D3.12
    42(a)
    1 ↔ 1
    I(6741982-6742358)


    ENSEMBL Gene Tree for C6orf57 (if available)
    TreeFam Gene Tree for C6orf57 (if available)

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

    (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

    10/576 SNPs in C6orf57 are shown (see all 576)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009171281,2
    C--71274886(+) AAGCTC/TTTTTT 1 -- int10--------
    rs1510480881,2
    --71275019(+) CAAACC/TAGTCA 1 -- int10--------
    rs94462671,2
    C,F,H--71275040(+) AATGTC/AGATTT 1 -- int1 tfbs312Minor allele frequency- A:0.29NS EA NA WA CSA 782
    rs1826187521,2
    --71275100(+) ATTCTC/GGCCAG 1 -- int10--------
    rs1889249521,2
    --71275155(+) GAGGGA/GTGGAT 1 -- int10--------
    rs94551611,2
    C,F--71275179(+) GAGTTT/CGAAAC 1 -- int17Minor allele frequency- C:0.19NA WA CSA EA 365
    rs1139499951,2
    F--71275251(+) GTGACA/GTGTGC 1 -- int13Minor allele frequency- G:0.04CSA WA 122
    rs561314951,2
    C,F--71275276(+) AATACA/GTAAAT 1 -- int12Minor allele frequency- G:0.14NA EA 240
    rs1409291051,2
    --71275287(+) AAGCTA/TAATTA 1 -- int10--------
    rs74507711,2
    C,F--71275629(+) aaggcT/Cggcgt 1 -- int13Minor allele frequency- C:0.11NA WA 240

    HapMap Linkage Disequilibrium report for C6orf57 (71276620 - 71299272 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C6orf57:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv886146CNV Loss21882294
    nsv886145CNV Loss21882294
    nsv886147CNV Gain21882294
    nsv524328CNV Gain19592680

    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

    C6orf57 for disorders           About MalaCards

    C6orf57 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C6orf57
    Human Genome Epidemiology (HuGE) Navigator: C6orf57 (1 document)

    Export disorders for C6orf57 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 C6orf57 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C6orf57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PubMed id 21490949)1, 4 Sim X....Tai E.S. (2011)
    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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    5. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. 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: 135154 HGNC: 20957 AceView: C6orf57 Ensembl:ENSG00000154079 euGenes: HUgn135154
    ECgene: C6orf57 H-InvDB: C6orf57

    (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 C6orf57 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 C6orf57 gene:
    Search GeneIP for patents involving C6orf57

    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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