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KRCC1 Gene

protein-coding   GIFtS: 42
GCID: GC02M088326

Lysine-Rich Coiled-Coil 1

  See KRCC1-related disease
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
Lysine-Rich Coiled-Coil 11 2
Cryptogenic Hepatitis-Binding Protein 22 3
CHBP22 3
Cryptogenic Hepatitis Binding Protein2
Lysine-Rich Coiled-Coil Protein 12

External Ids:    HGNC: 280391   Entrez Gene: 513152   Ensembl: ENSG000001720867   UniProtKB: Q9NPI73   

Export aliases for KRCC1 gene to outside databases

Previous GC identifers: GC02M088107 GC02M087248


(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 KRCC1 Gene:
KRCC1 (lysine-rich coiled-coil 1) is a protein-coding gene. Diseases associated with KRCC1 include hepatitis. An important paralog of this gene is ZNF346.


(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_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRCC1 gene promoter:
         SRF   Elk-1   SRF (504 AA)   Egr-1   POU6F1 (c2)   MEF-2A   E2F   E2F-1   HOXA5   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRCC1 promoter sequence
   Search Chromatin IP Primers for KRCC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRCC1


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

KRCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRCC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M088326:  view genomic region     (about GC identifiers)

Start:
88,326,724 bp from pter      End:
88,355,248 bp from pter
Size:
28,525 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KRCC1_HUMAN, Q9NPI7 (See protein sequence)
Recommended Name: Lysine-rich coiled-coil protein 1  
Size: 259 amino acids; 30980 Da
Sequence caution: Sequence=AAI07581.1; Type=Frameshift; Positions=183; Sequence=ABN71577.1; Type=Frameshift;
Positions=183;
Secondary accessions: Q3B7J7

Explore the universe of human proteins at neXtProt for KRCC1: NX_Q9NPI7

Explore proteomics data for KRCC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRCC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057702.1  
    ENSEMBL proteins: 
     ENSP00000340083  

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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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    ProtoNet protein and cluster: Q9NPI7


    (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, 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRCC1
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    3 qRT-PCR Assays for microRNAs that regulate KRCC1:
    hsa-miR-411* hsa-miR-379* hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidKRCC1 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRCC1


    (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
    nucleus3
    cytosol1
    extracellular1

    (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 KRCC1
    Interactions:

        Search GeneGlobe Interaction Network for KRCC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for KRCC1 (ENSP000003400834) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1DENSP000003481074STRING: ENSP00000348107
    NCAPHENSP000002404234STRING: ENSP00000240423
    PSMD8ENSP000002150714STRING: ENSP00000215071
    SMC4ENSP000003413824STRING: ENSP00000341382
    ESPL1ENSP000002579344STRING: ENSP00000257934
    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 KRCC1



    (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 KRCC1 gene: 
    NM_016618.1  

    Unigene Cluster for KRCC1:

    Lysine-rich coiled-coil 1
    Hs.469254  [show with all ESTs]
    Unigene Representative Sequence: AK025986
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000347055(uc002sso.1 uc002ssp.1)
    miRNA
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    hsa-miR-411* hsa-miR-379* hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidKRCC1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat KRCC1
      QuantiFast Probe-based Assays in human, mouse, rat KRCC1

    Additional mRNA sequence: 

    AF208845.1 AF217520.1 AK025986.1 BC015927.1 BC107580.1 EF413023.1 

    5 DOTS entries:

    DT.455679  DT.95075297  DT.101969574  DT.92015182  DT.100782851 

    Selected AceView cDNA sequences (see all 178):

    BG527591 AA700782 AA194175 AI354804 CA950151 BE326678 AI095536 CA306813 
    AF208845 AA954686 BX283832 BM856194 CA427309 AI041858 N50562 BM512322 
    BM789783 CR604678 NM_016618 AI310720 BM830740 BU688741 AW305172 BU074568 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KRCC1    About this scheme

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


    ECgene alternative splicing isoforms for KRCC1

    (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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    KRCC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGCTCTCC
    KRCC1 Expression
    About this image

    KRCC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRCC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469254
        Custom PCR Arrays for KRCC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRCC1

    (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 KRCC1 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krcc11 , 5 lysine-rich coiled-coil 11, 5 83.59(n)1
    72.66(a)1
      6 (32.14 cM)5
    578961  NM_145568.31  NP_663543.11 
     712720195 
    zebrafish
    (Danio rerio)
    Actinopterygii ZMAT16
    zinc finger, matrin-type 1
    12(a)
    1 → many
    21(9945172-9953379) ENSDARG00000058679


    ENSEMBL Gene Tree for KRCC1 (if available)
    TreeFam Gene Tree for KRCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRCC1 gene
    ZNF3462  ZMAT42  ZMAT12  
    1 SIMAP similar gene for KRCC1 using alignment to 1 protein entry:     KRCC1_HUMAN:
    ZMAT1

    Find genes that share paralogs with KRCC1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KRCC1
    PGOHUM00000240138


    (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 KRCC1 (see all 536)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013375591,2
    C--88326272(+) AGCAG-/CCCCTC 1 -- int10--------
    rs1122884551,2
    F--88326349(+) CTTTAT/CTCTAT 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs1417465081,2
    --88326380(+) CTTGCG/TTGAGA 1 -- int10--------
    rs669198351,2
    C--88326423(+) ACCCC-/TTTTCC 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs1839027371,2
    --88326453(+) CCAGTC/GAAGGG 1 -- int10--------
    rs1886816971,2
    --88326478(+) ACCCCC/TGACCC 1 -- int10--------
    rs1505703761,2
    --88326657(+) CCAAGG/TTATTC 1 -- int10--------
    rs70751,2
    C,F,A,H--88326821(-) ATTATA/GATCTT 1 -- ut3122Minor allele frequency- G:0.21MN NA NS EA 2520
    rs1815395881,2
    --88326840(+) TTTTCC/TACTTT 1 -- ut310--------
    rs136851,2
    C,F,H--88327094(-) TTGAAC/AATATA 1 -- ut317Minor allele frequency- A:0.00MN NS EA NA 864

    HapMap Linkage Disequilibrium report for KRCC1 (88326724 - 88355248 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KRCC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv61n16CNV Deletion17901297
    esv2720313CNV Deletion23290073
    esv2720312CNV Deletion23290073
    nsv441768CNV CNV18776908

    Site Specific Mutation Identification with PCR Assays
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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.)
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    1 disease for KRCC1:    
    About MalaCards
    hepatitis


    Find genes that share disorders with KRCC1           About GenesLikeMe

    Genetic Association Database (GAD): KRCC1

    Export disorders for KRCC1 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 KRCC1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KRCC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)1, 4 Johnson A.D.... Witteman J.C. (Hum. Mol. Genet. 2009)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. 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)
    4. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....da Cruz e Silva E.F. (Biochem. Pharmacol. 2011)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    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. (Genomics 2007)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. 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)
    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: 51315 HGNC: 28039 AceView: LOC51315 Ensembl:ENSG00000172086 euGenes: HUgn51315
    ECgene: KRCC1 H-InvDB: KRCC1

    (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 KRCC1 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 KRCC1 gene:
    Search GeneIP for patents involving KRCC1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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     Search Addgene for plasmids for KRCC1
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    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

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