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

C14orf1 Gene

protein-coding   GIFtS: 53
GCID: GC14M076116

Chromosome 14 Open Reading Frame 1

  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 14 Open Reading Frame 11 2
ERG282
NET512
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

GeneCards Summary for C14orf1 Gene: 
C14orf1 (chromosome 14 open reading frame 1) is a protein-coding gene. Diseases associated with C14orf1 include neuronal ceroid lipofuscinosis, and pancreatic cancer. GO annotations related to this gene include molecular_function.

Gene Wiki entry for C14orf1 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_000014.8  NC_018925.2  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 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: 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

Explore proteomics data for C14orf1 at MOPED 

Post-translational modifications:

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

  • C14orf1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C14orf1 Protein Expression
    REFSEQ proteins: NP_009107.1  
    ENSEMBL proteins: 
     ENSP00000256319  

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    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005352 Erg28

    Graphical View of Domain Structure for InterPro Entry Q9UKR5

    ProtoNet protein and cluster: Q9UKR5

    1 Blocks protein domain: IPB005352 Protein of unknown function UPF0143

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


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

         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


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C14orf1 
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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 C14orf1

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

    5/103 Interacting proteins for C14orf1 (Q9UKR52, 3 ENSP000002563194) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000172850Q9Y3332, 3MINT-65813 I2D: score=5 
    ENSG00000224979Q9Y3332, 3MINT-65813 I2D: score=5 
    ENSG00000225998Q9Y3332, 3MINT-65813 I2D: score=5 
    ENSG00000231502Q9Y3332, 3MINT-65813 I2D: score=5 
    ENSG00000236826Q9Y3332, 3MINT-65813 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, 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 C14orf1 (ERG28)

    Search CenterWatch for drugs/clinical trials and news about C14orf1 / ERG28

    (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 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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    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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    Additional mRNA 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):

    BE391143 BM986961 BQ881270 BQ881043 BX108730 BM852464 AI937406 BQ689363 
    CR604759 AI913778 BQ437435 BC002444 AA583250 BF940488 BM671829 BE048604 
    AI538920 AL557050 T32338 W90243 AI963120 CR596661 CA842928 CF126326 

    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)      C14orf1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGTTGGAA
    C14orf1 Expression
    About this image


    C14orf1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             cord blood   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Thyroid (Endocrine System)    fully expand to see all 2 entries
             thyroid gland ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    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

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    In Situ
    Assay Products:
     

     
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    (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 and fungi.

    Orthologs for C14orf1 gene from 4/11 species (see all 11)    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG28(YER044C)4 Endoplasmic reticulum membrane protein, may facilitate more   --   5(238016-237570) 856767  NP_010962.1 


    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, 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 C14orf1 are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs763477621,2
    C,F--76117016(+) GTGAAC/TGCAGA 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1484493741,2
    C--76117040(+) GAAAA-/AAGAAGAT 1 -- int10--------
    rs1995745501,2
    --76117061(+) AAGAA-/TACAAGAG 1 -- int10--------
    rs597761721,2
    C--76117062(+) AGAAT-/ACAAGAGG 1 -- int10--------
    rs599261941,2
    C--76117065(+) ATACAA/TGAGGA 1 -- int10--------
    rs1818358771,2
    --76117256(+) TTTCTA/GTTTAT 1 -- ut310--------
    rs1875933901,2
    --76117297(+) CAGAAA/GGTCTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C14orf1 (76116134 - 76127538 bp)

    Structural Variations
          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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604576    OMIM disorders: --

    4 diseases for C14orf1:    About MalaCards
    neuronal ceroid lipofuscinosis    pancreatic cancer    pancreatitis    neuronitis


    C14orf1 for disorders           About GeneDecksing


    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)

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    (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:
    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
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