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C14orf80 Gene

protein-coding   GIFtS: 39
GCID: GC14P105956

Chromosome 14 Open Reading Frame 80

  Search for C14orf80
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 14 Open Reading Frame 801 2
Uncharacterized Protein C14orf802

External Ids:    HGNC: 201271   Entrez Gene: 2836432   Ensembl: ENSG000001853477   UniProtKB: Q86SX33   

Export aliases for C14orf80 gene to outside databases

Previous GC identifers: GC14P099948 GC14P103927 GC14P103928 GC14P105027 GC14P105953 GC14P086154


(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 C14orf80 Gene:
C14orf80 (chromosome 14 open reading frame 80) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the C14orf80 gene promoter:
         NF-1   NRSF form 1   NRSF form 2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C14orf80

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C14orf80


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

C14orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C14orf80 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105956:  view genomic region     (about GC identifiers)

Start:
105,956,192 bp from pter      End:
105,965,912 bp from pter
Size:
9,721 bases      Orientation:
plus 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: CN080_HUMAN, Q86SX3 (See protein sequence)
Recommended Name: Uncharacterized protein C14orf80  
Size: 495 amino acids; 54231 Da
Sequence caution: Sequence=CAD62351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAD62363.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD62611.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B5MDG3 E9PAQ4 Q86TT3 Q86TT4 Q86TT5 Q96B41 Q9H7H4
Alternative splicing: 6 isoforms:  Q86SX3-1   Q86SX3-2   Q86SX3-3   Q86SX3-4   Q86SX3-5   Q86SX3-6   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for C14orf80: NX_Q86SX3

Explore proteomics data for C14orf80 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys43, Lys83, Lys195, Lys409

  • See C14orf80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001128347.1  NP_001128348.1  NP_001128349.1  NP_001185912.1  

    ENSEMBL proteins: 
     ENSP00000333010   ENSP00000391365   ENSP00000399624   ENSP00000400604   ENSP00000376312  
     ENSP00000398161   ENSP00000400014   ENSP00000401319   ENSP00000376307   ENSP00000376308  
     ENSP00000346568   ENSP00000450003   ENSP00000391436   ENSP00000333959  

    C14orf80 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for C14orf80
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for C14orf80

    C14orf80 Antibody Products:

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    Search for Antibodies for C14orf80 at Abcam
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    LSBio Antibodies in human, mouse, rat for C14orf80

    C14orf80 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for C14orf80
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C14orf80
    Cloud-Clone Corp. CLIAs for C14orf80


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028100 DUF4510
     IPR027996 DUF4509

    Graphical View of Domain Structure for InterPro Entry Q86SX3

    ProtoNet protein and cluster: Q86SX3


    C14orf80 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,
    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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    Phenotypes:
         1 GenomeRNAi human phenotype for C14orf80:
     Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C14orf80
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C14orf80
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C14orf80

    miRNA
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    miRTarBase miRNAs that target C14orf80:
    hsa-mir-361-5p (MIRT044082)

    Block miRNA regulation of human, mouse, rat C14orf80 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate C14orf80
    SwitchGear 3'UTR luciferase reporter plasmidC14orf80 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C14orf80

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    GenScript: all cDNA clones in your preferred vector (see all 4): C14orf80 (NM_001134875)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C14orf80
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C14orf80

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf80


    (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
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    peroxisome1

    (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 C14orf80
    Interactions:

        Search GeneGlobe Interaction Network for C14orf80

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

    2 Interacting proteins for C14orf80 (Q86SX33 ENSP000003763074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDIT3P356383, ENSP000003406714I2D: score=3 STRING: ENSP00000340671
    CEBPZENSP000002341704STRING: ENSP00000234170
    About this table

    (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 C14orf80 (CN080)



    (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 C14orf80 gene (5 alternative transcripts): 
    NM_173608.2  NM_001134875.1  NM_001134876.1  NM_001134877.1  NM_001198983.1  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000329886(uc001yrj.3 uc001yrk.3) ENST00000427614 ENST00000455454
    ENST00000432805 ENST00000551054 ENST00000392527 ENST00000443229 ENST00000421892
    ENST00000451719 ENST00000392522 ENST00000392523(uc001yrn.3 uc001yrm.3)
    ENST00000460959 ENST00000354560(uc001yro.3) ENST00000546536 ENST00000463869
    ENST00000548920(uc010tys.2) ENST00000450383 ENST00000551538
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate C14orf80
    SwitchGear 3'UTR luciferase reporter plasmidC14orf80 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C14orf80
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    GenScript: all cDNA clones in your preferred vector (see all 4): C14orf80 (NM_001134875)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C14orf80
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C14orf80
    Primer
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    OriGene qPCR primer pairs and template standards for C14orf80
    OriGene qSTAR qPCR primer pairs in human, mouse for C14orf80
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C14orf80
      QuantiTect SYBR Green Assays in human, mouse, rat C14orf80
      QuantiFast Probe-based Assays in human, mouse, rat C14orf80

    Selected AceView cDNA sequences (see all 256):

    BM741419 BM767307 BM770554 BQ128340 BX358586 BM742877 BM770272 BM767295 
    BM743915 BX375934 BM742569 AI580872 BM770785 BM765744 BM767246 BM770773 
    BE873246 BM766855 CR623931 BM744385 BM770288 BM742522 CR621008 BM771468 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C14orf80 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^
    SP1:                                -                 -     -     -     -     -     -     -                                                                 -   
    SP2:                                                        -     -     -     -     -     -                 -                                               -   
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                  -     -                 -     -     -     -           -   
    SP5:                    -     -     -                 -     -     -     -     -     -     -                                                           -     -   

    ExUns: 12a · 12b · 12c · 12d ^ 13a · 13b · 13c ^ 14a · 14b
    SP1:  -                 -                                 
    SP2:  -                 -                                 
    SP3:  -                 -                                 
    SP4:  -                 -                                 
    SP5:  -                                                   


    ECgene alternative splicing isoforms for C14orf80

    (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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    C14orf80 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCGCTCCAG
    C14orf80 Expression
    About this image

    C14orf80 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C14orf80 Protein Expression
        Custom PCR Arrays for C14orf80
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf80

    (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 chordates.

    Orthologs for C14orf80 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930427A07Rik1 , 5 RIKEN cDNA 4930427A07 gene1, 5 74.32(n)1
    69.38(a)1
      12 (61.62 cM)5
    1047321  NM_134041.31  NP_598802.21 
     1131564215 
    chicken
    (Gallus gallus)
    Aves C14ORF801 chromosome 8 open reading frame, human C14orf80 55.61(n)
    46.02(a)
      424373  XM_422217.4  XP_422217.3 
    lizard
    (Anolis carolinensis)
    Reptilia C14orf806
    chromosome 14 open reading frame 80
    35(a)
    1 ↔ 1
    GL343405.1(163793-181748)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004853261 chromosome unknown open reading frame, human C14orf8 more 46.23(n)
    38.44(a)
      100485326  XM_002935725.2  XP_002935771.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5705741 uncharacterized LOC570574 46.93(n)
    36.58(a)
      570574  XM_701469.5  XP_706561.2 


    ENSEMBL Gene Tree for C14orf80 (if available)
    TreeFam Gene Tree for C14orf80 (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 C14orf80 (see all 327)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs101353261,2
    C,F,H--105955668(+) TGTGCG/ATCCTC 4 -- us2k115Minor allele frequency- A:0.23NS EA NA WA CSA 1500
    rs798219691,2
    C,F--105956018(+) GATTGG/AGGGAT 4 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1144450491,2
    F--105956271(+) CGGTTC/TCCCAC 4 -- us2k1 ut511Minor allele frequency- T:0.22WA 118
    rs2017606131,2
    --105956507(+) GGGGG-/GCCCCGA 4 -- us2k1 int10--------
    rs74942471,2
    C--105956508(+) gggggC/Gcccga 4 -- us2k1 int10--------
    rs113021051,2
    C--105956508(+) GGCCC-/CGAGGC 4 -- us2k1 int10--------
    rs1836646091,2
    --105957146(+) ACTGCA/GTAAGC 4 -- us2k1 int10--------
    rs768645841,2
    C--105957446(+) TGTCCG/AGCCAG 6 /S /G us2k1 mis12Minor allele frequency- A:0.22CSA WA 120
    rs1158967171,2
    F--105957512(+) AGCGCG/AGTGAT 4 -- us2k1 int11Minor allele frequency- A:0.02WA 118
    rs1150661861,2
    C,F--105957891(+) GCCGGA/GTGGGG 4 -- int11Minor allele frequency- G:0.30WA 118

    HapMap Linkage Disequilibrium report for C14orf80 (105956192 - 105965912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C14orf80 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2033n71CNV Loss21882294
    dgv2025n71CNV Loss21882294
    nsv902490CNV Loss21882294
    dgv2036n71CNV Loss21882294
    dgv2035n71CNV Loss21882294
    dgv2037n71CNV Loss21882294
    nsv902480CNV Loss21882294
    dgv2032n71CNV Loss21882294
    dgv2020n71CNV Loss21882294
    dgv2024n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C14orf80
    DNA2.0 Custom Variant and Variant Library Synthesis for C14orf80

    (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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    (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 C14orf80 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C14orf80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. 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)
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    4. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    5. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. (PubMed id )2 

    (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: 283643 HGNC: 20127 AceView: CRIP1andC14orf80 Ensembl:ENSG00000185347 euGenes: HUgn283643
    ECgene: C14orf80 H-InvDB: C14orf80

    (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 C14orf80 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C14orf80 gene:
    Search GeneIP for patents involving C14orf80

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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