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KRT78 Gene

protein-coding   GIFtS: 49
GCID: GC12M053232

Keratin 78

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(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
Keratin 781 2     Keratin, Type II Cytoskeletal 782
K5B2 3 5     keratin-5b2
Type-II Keratin Kb402 3     keratin-782
CK-782 3     Cytokeratin-783
K782 3     KB403
Kb402     Keratin-5b3
cytokeratin-782     Keratin-783
Keratin 5b2     

External Ids:    HGNC: 289261   Entrez Gene: 1963742   Ensembl: ENSG000001704237   OMIM: 6111595   UniProtKB: Q8N1N43   

Export aliases for KRT78 gene to outside databases

Previous GC identifers: GC12M051518 GC12M050276


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRT78 Gene:
This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament
domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12
nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and
non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four
pseudogenes of this gene family have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT78 Gene:
KRT78 (keratin 78) is a protein-coding gene. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT80.

Gene Wiki entry for KRT78 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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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT78 gene promoter:
         GR   RP58   AML1a   Tal-1beta   E47   C/EBPalpha   HEN1   CHOP-10   GR-alpha   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT78 promoter sequence
   Search Chromatin IP Primers for KRT78

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT78


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

KRT78 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT78 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053232:  view genomic region     (about GC identifiers)

Start:
53,231,588 bp from pter      End:
53,242,876 bp from pter
Size:
11,289 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K2C78_HUMAN, Q8N1N4 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 78  
Size: 520 amino acids; 56866 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Sequence caution: Sequence=DAA00377.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K4D6 Q5HYM7 Q7RTT2
Alternative splicing: 2 isoforms:  Q8N1N4-1   Q8N1N4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KRT78: NX_Q8N1N4

Explore proteomics data for KRT78 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys128
  • Modification sites at PhosphoSitePlus

  • See KRT78 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775487.2  
    ENSEMBL proteins: 
     ENSP00000352479   ENSP00000306261   ENSP00000448562   ENSP00000447817  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF2: Intermediate filaments type II, keratins (basic)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry Q8N1N4

    ProtoNet protein and cluster: Q8N1N4

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C78_HUMAN, Q8N1N4
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with KRT78           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    Find genes that share ontologies with KRT78           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT78:
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KRT78

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    (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
    cytoskeleton2
    cytosol2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005882intermediate filament ----
    GO:0045095keratin filament IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with KRT78           About GenesLikeMe


    (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 KRT78
    Interactions:

        Search GeneGlobe Interaction Network for KRT78

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

    Selected Interacting proteins for KRT78 (Q8N1N43 ENSP000003062614) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT2Q8IXJ63, ENSP000002493964I2D: score=2 STRING: ENSP00000249396
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    CDC42BPBQ9Y5S23, ENSP000003552374I2D: score=1 STRING: ENSP00000355237
    AMBRA1Q9C0C73I2D: score=1 
    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 KRT78 (K2C78)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KRT78 gene: 
    NM_173352.2  

    Unigene Cluster for KRT78:

    Keratin 78
    Hs.665267  [show with all ESTs]
    Unigene Representative Sequence: BX647095
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359499 ENST00000304620(uc001sbc.1) ENST00000547920 ENST00000547110
    ENST00000551581
    miRNA
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    hsa-miR-4265 hsa-miR-4296
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    Additional mRNA sequence: 

    AK290901.1 AK298636.1 BX647095.1 

    2 DOTS entries:

    DT.99997715  DT.101976768 

    Selected AceView cDNA sequences (see all 251):

    BF830977 BM697307 BE742142 BG741384 BQ027522 NM_175834 AK130156 AA629199 
    AU077018 BC039148 AJ564105 BE735977 BM715509 AW082111 BP371899 C00570 
    AW265613 BG674144 BM986757 NM_015848 BG698825 BM701115 BE719510 BF751553 

    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™, 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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    KRT78 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRT78 Expression
    About this image

    KRT78 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT78 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.665267

    UniProtKB/Swiss-Prot: K2C78_HUMAN, Q8N1N4
    Tissue specificity: Expressed in tongue, but not in skin or in any other tissues or organs examined

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT78

    (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 KRT78 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt781 , 5 keratin 781, 5 76.65(n)1
    67.65(a)1
      15 (57.15 cM)5
    3321311  NM_212487.41  NP_997652.41 
     1019460045 
    chicken
    (Gallus gallus)
    Aves KRT786
    keratin 78
    41(a)
    1 ↔ 1
    LGE22C19W28_E50C23(700752-704451)
    lizard
    (Anolis carolinensis)
    Reptilia KRT786
    keratin 78
    38(a)
    1 ↔ 1
    AAWZ02040712(2642-4405)


    ENSEMBL Gene Tree for KRT78 (if available)
    TreeFam Gene Tree for KRT78 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT78 gene
    KRT802  
    Selected SIMAP similar genes for KRT78 using alignment to 3 protein entries:     K2C78_HUMAN (see all proteins) (see all similar genes):
    KRT7    KRT79    KRT121P    KRT1    KRTHB6    KRT3
    KRT4    KRT75    KRT72    KRT6C    KRT8    KRT74
    KRT2    KRT73    KRT5    KRT76    KRT1B    KRT6A

    Find genes that share paralogs with KRT78           About GenesLikeMe



    (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 KRT78 (see all 407)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs594399011,2
    C,F--53067518(+) CTACCG/AAGTCC 2 /L syn13Minor allele frequency- A:0.05WA NA EU 5705
    rs1143305861,2
    C,F--53067551(+) CCAACT/ACCTCC 2 /G syn11Minor allele frequency- A:0.00NA 4472
    rs1414985481,2
    C,F--53067552(+) CAACTC/ACTCCA 2 /G /V mis11Minor allele frequency- A:0.00NA 4472
    rs1903943231,2
    C--53067603(+) GCACCA/GGGTCA 1 -- int10--------
    rs2006928951,2
    --53067653(+) AAGTCC/TCCTGA 1 -- int10--------
    rs1452420981,2
    C--53067761(+) CCCCAC/TGAGCT 1 -- int10--------
    rs1822016351,2
    --53067840(+) CCTCTA/CTGCAG 1 -- int10--------
    rs1471812001,2
    C--53067850(+) GCGTCA/GGTTGC 1 -- int10--------
    rs1115482631,2
    C--53067946(+) AACTCT/ATATTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1998915581,2
    --53067974(+) TCCCTC/TACCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for KRT78 (53231588 - 53242876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KRT78:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv711CNV Insertion18451855
    nsv832416CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT78
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT78

    (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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    OMIM gene information: 611159    OMIM disorders: --


    Find genes that share disorders with KRT78           About GenesLikeMe

    Genetic Association Database (GAD): KRT78

    Export disorders for KRT78 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)
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    PubMed articles for KRT78 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with KRT78)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    2. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PubMed id 15737194)1, 2 Rogers M.A....Schweizer J. (J. Invest. Dermatol. 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. (PubMed id 11683385)1, 2 Hesse M.... Weber K. (J. Cell Sci. 2001)
    5. The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (Mol. Cell. Biochem. 2012)
    6. Genome-wide association study identifies new prostate cancer susceptibility loci. (PubMed id 21743057)4 Schumacher F.R....Kraft P. (Hum. Mol. Genet. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1 Sang L.... Jackson P.K. (Cell 2011)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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: 196374 HGNC: 28926 AceView: KRT4andHUMCYT2AandKRT3andK5BandKRT6L Ensembl:ENSG00000170423 euGenes: HUgn196374
    ECgene: KRT78 H-InvDB: KRT78

    (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 KRT78 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 KRT78 gene:
    Search GeneIP for patents involving KRT78

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KRT78  
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     OriGene Custom Antibody Services for KRT78   OriGene Custom Protein Services for KRT78  

     
     
     Block miRNA regulation of human, mouse, rat KRT78 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KRT78
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT78 Predesigned siRNA for gene silencing in human, mouse, rat KRT78
     QuantiFast Probe-based Assays in human, mouse, rat KRT78 QuantiTect SYBR Green Assays in human, mouse, rat KRT78
     Custom PCR Arrays for KRT78 Search Chromatin IP Primers for KRT78
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT78  Search GeneGlobe Interaction Network for KRT78
     Regulatory tfbs in KRT78 promoter
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     Search Tocris compounds for KRT78 (K2C78)
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     Novus Tissue Slides
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     Browse ESI BIO Cell Lines and PureStem Progenitors for KRT78
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     Browse compounds at ApexBio
     Search Addgene for plasmids for KRT78
      Search eBioscience for proteins for KRT78
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for KRT78
     antibodies-online antibodies for KRT78 (11 products)
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      Search antibodies-online for peptides for KRT78
     antibodies-online proteins for KRT78 (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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