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

C14orf1 Gene

protein-coding   GIFtS: 50
GCID: GC14M076116

chromosome 14 open reading frame 1

  Search for C14orf1
in our new
 Human Malady Compendium 
Biological research products
for C14orf1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 14 Open Reading Frame 11 2
ERG281 2
NET511 2
Probable Ergosterol Biosynthetic Protein 282

External Ids:    HGNC: 11871   Entrez Gene: 111612   Ensembl: ENSG000001339357   OMIM: 6045765   UniProtKB: Q9UKR53   

Export aliases for C14orf1 gene to outside databases

Previous GC identifers: GC14M073621 GC14M069933 GC14M074106 GC14M075185 GC14M056285


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

Gene Wiki entry for C14orf1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C14orf1 gene promoter:
         c-Fos   Sox5   AP-1   FosB   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   CREB   deltaCREB   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C14orf1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C14orf1


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

C14orf1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C14orf1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M076116:  view genomic region     (about GC identifiers)

Start:
76,116,134 bp from pter      End:
76,127,538 bp from pter
Size:
11,405 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ERG28_HUMAN, Q9UKR5 (See protein sequence)
Recommended Name: Probable ergosterol biosynthetic protein 28  
Size: 140 amino acids; 15864 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAD51373.1; Type=Erroneous gene model prediction; Sequence=AAF28966.1; Type=Erroneous
initiation;
Secondary accessions: Q9P093 Q9UPI2

Explore the universe of human proteins at neXtProt for C14orf1: NX_Q9UKR5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UKR5

  • C14orf1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_009107.1  
    ENSEMBL proteins: 
     ENSP00000256319  

    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C14orf1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane NAS10449901
    GO:0030133transport vesicle IDA--


    C14orf1 for ontologies           About GeneDecksing



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    Uscn Antibodies for C14orf1
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    Uscn ELISAs and CLIAs for C14orf1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    C14orf1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005352 Erg28

    Graphical View of Domain Structure for InterPro Entry Q9UKR5

    ProtoNet protein and cluster: Q9UKR5

    1 Blocks protein family: IPB005352 Protein of unknown function UPF0143

    UniProtKB/Swiss-Prot: ERG28_HUMAN, Q9UKR5
    Similarity: Belongs to the ERG28 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for C14orf1:
    chromosome 14 open reading frame 14,expressed in testis and cancer cell lines (see TSG14B),homolog to yeast Yer044C

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    hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-330-5p hsa-miR-15a hsa-miR-1260b hsa-miR-583 hsa-miR-424 hsa-miR-548x
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    C14orf1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for C14orf1:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C14orf1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/98 Interacting proteins for C14orf1 (Q9UKR52, 3 ENSP000002563194) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TK1P041832, 3MINT-8273004 MINT-63378 I2D: score=5 
    CCL18P557742, 3MINT-63888 I2D: score=6 
    ALDH2P050912, 3MINT-63389 I2D: score=5 
    BAIAP2Q9UQB82, 3MINT-65794 I2D: score=5 
    BTBD2Q9BX702, 3MINT-65393 I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0016126sterol biosynthetic process IEA--


    C14orf1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C14orf1
    Search CenterWatch for drugs/clinical trials and news about C14orf1 / ERG28 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C14orf1 gene: 
    NM_007176.3  

    Unigene Cluster for C14orf1:

    Chromosome 14 open reading frame 1
    Hs.15106  [show with all ESTs]
    Unigene Representative Sequence: AF134159
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000256319(uc001xrt.3)

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate C14orf1 (see all 24):
    hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-330-5p hsa-miR-15a hsa-miR-1260b hsa-miR-583 hsa-miR-424 hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidC14orf1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF134159.2 AF136971.1 AF161406.1 AK311764.1 AL136658.1 BC002444.2 BX248022.1 CR533443.1 

    14 DOTS entries:

    DT.443528  DT.100790260  DT.95125061  DT.100843012  DT.120752700  DT.95271085  DT.120752712  DT.120752873 
    DT.92435474  DT.95184866  DT.95271084  DT.120752772  DT.92017387  DT.92435467 

    24/203 AceView cDNA sequences (see all 203):

    CB215328 CK906276 CR604759 AA642233 AI863431 AA053917 CR597566 CK906277 
    AA583250 AL557050 BM986961 AI913778 BQ614118 BG028203 AI971022 CB156946 
    CA950792 AI538920 BM551326 AV711602 BX374458 BC002444 T32338 AI469642 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C14orf1    About this scheme

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


    ECgene alternative splicing isoforms for C14orf1

    (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

    C14orf1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGTTGGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See C14orf1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C14orf1

    SOURCE GeneReport for Unigene cluster: Hs.15106

    UniProtKB/Swiss-Prot: ERG28_HUMAN, Q9UKR5
    Tissue specificity: Ubiquitous; strongly expressed in testis and some cancer cell lines

        SABiosciences Custom PCR Arrays for C14orf1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf1

    (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 eukaryotes.

    Orthologs for C14orf1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610007P14Rik1 , 5 RIKEN cDNA 0610007P14 gene1, 5 92.14(n)1
    97.86(a)1
      12 (39.81 cM)5
    585201  NM_021446.21  NP_067421.11 
     858154485 
    chicken
    (Gallus gallus)
    Aves C5H14orf11 chromosome 5 open reading frame, human C14orf1 74.84(n)
    79.25(a)
      423366  XM_421281.3  XP_421281.3 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5651321 probable ergosterol biosynthetic protein 28-like 72.66(n)
    77.7(a)
      565132  XM_688430.3  XP_693522.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERG286
    Ergosterol biosynthetic protein 28
    32(a)
    1 ↔ 1
    1(3273825-3275837)
    rice
    (Oryza sativa)
    Liliopsida --
    ergosterol biosynthetic protein 28, putative, expr...
    29(a)
    1 ↔ 1
    12(27098644-27101176)


    ENSEMBL Gene Tree for C14orf1 (if available)
    TreeFam Gene Tree for C14orf1 (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, UniProtKB, 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

    10/183 NCBI SNPs in C14orf1 are shown (see all 183    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122276791,2
    --56294365(+) CTCACC/TCTCTC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1124947181,2
    --56294510(+) CTGAGG/CACTTC 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs116258081,2
    C,F,H--56295642(+) GCGCAG/AAGCGC 1 -- ut518Minor allele frequency- A:0.01NS EA NA 426
    rs769839471,2
    F,--56295651(+) GCGGTC/GCACGC 1 -- ut511Minor allele frequency- G:0.06WA 118
    rs801189231,2
    F,--56295695(+) GTAAAC/TGCCTG 1 -- int11Minor allele frequency- T:0.06WA 118
    rs791880391,2
    --56295911(+) AAGCAG/CATTCC 1 -- int11Minor allele frequency- C:0.01EA 120
    rs771654621,2
    C,F,--56295924(+) TCGGGA/CGAGGA 1 -- int11Minor allele frequency- C:0.08WA 118
    rs22410861,2
    H--76116755(+) ACTCAA/TCAAAT 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1486911891,2
    --76116989(+) ATAAGA/GAAGGG 1 -- int10--------
    rs752296891,2
    C,F,--76117013(+) GTTGTG/AAACGC 1 -- int11Minor allele frequency- A:0.04EA 120

    HapMap Linkage Disequilibrium report for C14orf1 (76116134 - 76127538 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C14orf1: --

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    (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.)
    About This Section

    C14orf1 for disorders           About MalaCards

    C14orf1 for disorders           About GeneDecksing

    OMIM gene information: 604576    OMIM disorders: --


    Export disorders for C14orf1 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 C14orf1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with C14orf1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene, encoding a potential membrane protein conserved from yeast to man, is strongly expressed in testis and cancer cell lines. (PubMed id 10449901)1, 2, 3 Veitia R.A.... Fellous A. (1999)
    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. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 3 Schirmer E.C....Gerace L. (2003)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    6. A novel gene conserved from yeast to humans is involved in sterol biosynthesis. (PubMed id 11160377)1, 3 Gachotte D....Bard M. (2001)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    8. 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 Zhang Q.-H.... Chen Z. (2000)
    9. Identifying protein partners of CLN8, an ER-resident p rotein involved in neuronal ceroid lipofuscinosis. (PubMed id 23142642)1 Passantino R....Guarneri P. (2013)
    10. RNA interference characterization of proteins discover ed by proteomic analysis of pancreatic cancer reveals function in cell growth an d survival. (PubMed id 21934552)1 Lee C.N....Moore P.A. (2012)

    (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: 11161 HGNC: 1187 AceView: C14orf1 Ensembl:ENSG00000133935 euGenes: HUgn11161
    ECgene: C14orf1 H-InvDB: C14orf1

    (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 C14orf1 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 C14orf1 gene:
    Search GeneIP for patents involving C14orf1

    GeneCards and IP:
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