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

HCFC1R1 Gene

protein-coding   GIFtS: 44
GCID: GC16M003072

Host Cell Factor C1 Regulator 1 (XPO1 Dependent)

(Previous name: host cell factor C1 regulator 1 (XPO1 dependant))
  See 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)
About This Section

Aliases
Host Cell Factor C1 Regulator 1 (XPO1 Dependent)1 2
Host Cell Factor C1 Regulator 1 (XPO1 Dependant)1 2
HPIP2 3
HCF-1 Beta-Propeller-Interacting Protein2 3
HCF-1 Beta-Propeller Interacting Protein2
Host Cell Factor C1 Regulator 12

External Ids:    HGNC: 211981   Entrez Gene: 549852   Ensembl: ENSG000001031457   UniProtKB: Q9NWW03   

Export aliases for HCFC1R1 gene to outside databases

Previous GC identifers: GC16M003012 GC16M003045


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

GeneCards Summary for HCFC1R1 Gene: 
HCFC1R1 (host cell factor C1 regulator 1 (XPO1 dependent)) is a protein-coding gene. Diseases associated with HCFC1R1 include gastric cancer.

UniProtKB/Swiss-Prot: HPIP_HUMAN, Q9NWW0
Function: Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to
accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1
required for import of virion-derived VP16 into the nucleus




(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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HCFC1R1 gene promoter:
         AP-1   ATF-2   MyoD   HNF-4alpha2   c-Jun   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCFC1R1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HCFC1R1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCFC1R1


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

HCFC1R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCFC1R1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M003072:  view genomic region     (about GC identifiers)

Start:
3,072,621 bp from pter      End:
3,074,287 bp from pter
Size:
1,667 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: HPIP_HUMAN, Q9NWW0 (See protein sequence)
Recommended Name: Host cell factor C1 regulator 1  
Size: 138 amino acids; 15291 Da
Subunit: Interacts with HCFC1
Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent
manner
Secondary accessions: D3DUA7 Q68EN7
Alternative splicing: 2 isoforms:  Q9NWW0-1   Q9NWW0-2   

Explore the universe of human proteins at neXtProt for HCFC1R1: NX_Q9NWW0

Explore proteomics data for HCFC1R1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWW0

  • HCFC1R1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HCFC1R1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001002017.1  NP_001002018.1  NP_060355.1  

    ENSEMBL proteins: 
     ENSP00000248089   ENSP00000459178   ENSP00000458971   ENSP00000460639   ENSP00000346708  
     ENSP00000458628   ENSP00000380123  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    HCFC1R1 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

    ProtoNet protein and cluster: Q9NWW0


    (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:

         UniProtKB/Swiss-Prot Summary: HPIP_HUMAN, Q9NWW0
    Function: Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to
    accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1
    required for import of virion-derived VP16 into the nucleus

    Phenotypes:
         1 GenomeRNAi human phenotype for HCFC1R1:

     Increased gamma-H2AX phosphory 

    Animal Models:
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HCFC1R1

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

    3 Interacting proteins for HCFC1R1 (Q9NWW02, 3 ENSP000002480894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMP19Q9Y3282, 3, ENSP000003077224MINT-65807 I2D: score=3 STRING: ENSP00000307722
    HCFC1P516103, ENSP000003095554I2D: score=2 STRING: ENSP00000309555
    --Q6IAL23I2D: score=1 
    About this table

    (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 HCFC1R1 (HPIP)

    Search CenterWatch for drugs/clinical trials and news about HCFC1R1 / HPIP

    (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 HCFC1R1 gene (3 alternative transcripts): 
    NM_001002017.1  NM_001002018.1  NM_017885.2  

    Unigene Cluster for HCFC1R1:

    Host cell factor C1 regulator 1 (XPO1 dependent)
    Hs.423103  [show with all ESTs]
    Unigene Representative Sequence: BM919270
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248089(uc002csy.1 uc002csz.1) ENST00000574151 ENST00000576921
    ENST00000573095 ENST00000572355 ENST00000575214 ENST00000574980 ENST00000354679
    ENST00000573842 ENST00000396916(uc002csx.1)
    miRNA
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    Inhib. RNA
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCFC1R1
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                         Customized lentivirus expression plasmids for stable overexpression of HCFC1R1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HCFC1R1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCFC1R1

    Additional mRNA sequence: 

    AK000575.1 AK293768.1 AY116892.1 BC064026.1 BC080178.1 CR457245.1 

    19 DOTS entries:

    DT.95084812  DT.408651  DT.92434369  DT.92434372  DT.95079278  DT.92411825  DT.420514  DT.408652 
    DT.120679709  DT.100044539  DT.97835341  DT.100806089  DT.95079279  DT.95289379  DT.100806086  DT.100806090 
    DT.100834678  DT.95079280  DT.100801859 

    24/193 AceView cDNA sequences (see all 193):

    AI193077 W81387 BM795438 BX118945 BQ052173 BQ929195 BM790570 CR612406 
    AY116892 AA127040 BM701629 CR594889 BU733829 CA422138 CA407673 BM563291 
    BM769833 AA978265 AI685684 BM743069 NM_001002017 CF541056 BM687339 CB856896 

    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™, 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

    HCFC1R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAGGGAGG
    HCFC1R1 Expression
    About this image


    See HCFC1R1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HCFC1R1

    SOURCE GeneReport for Unigene cluster: Hs.423103

    UniProtKB/Swiss-Prot: HPIP_HUMAN, Q9NWW0
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCFC1R1

    (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 human and mouse.

    Orthologs for HCFC1R1 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcfc1r11 , 5 host cell factor C1 regulator 1 (XPO1-dependent)1, 5 82.22(n)1
    83.33(a)1
      17 (11.98 cM)5
    3535021  NM_181821.11  NP_861542.11 
     236735965 


    ENSEMBL Gene Tree for HCFC1R1 (if available)
    TreeFam Gene Tree for HCFC1R1 (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

    1 SNPs in HCFC1R1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0438494
    ----see VAR_0438492 P Q mis40--------

    HapMap Linkage Disequilibrium report for HCFC1R1 (3072621 - 3074287 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for HCFC1R1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509588CNV Insertion20534489
    dgv2579n71CNV Loss21882294
    nsv510673CNV Loss20534489
    nsv905193CNV Loss21882294
    nsv905170CNV Loss21882294
    nsv905185CNV Loss21882294
    nsv905197CNV Loss21882294
    dgv2575n71CNV Loss21882294
    nsv833125CNV Loss17160897
    dgv2576n71CNV Loss21882294

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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
    2 diseases for HCFC1R1:    About MalaCards
    gastric cancer    


    HCFC1R1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HCFC1R1
    Human Genome Epidemiology (HuGE) Navigator: HCFC1R1 (3 documents)

    Export disorders for HCFC1R1 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 HCFC1R1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with HCFC1R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of HCF-1 with a cellular nuclear export factor. (PubMed id 12235138)1, 2, 3 Mahajan S.S.... Wilson A.C. (2002)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    7. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. 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. (2002)

    (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: 54985 HGNC: 21198 AceView: HCFC1R1 Ensembl:ENSG00000103145 euGenes: HUgn54985
    ECgene: HCFC1R1 H-InvDB: HCFC1R1

    (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 HCFC1R1 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 HCFC1R1 gene:
    Search GeneIP for patents involving HCFC1R1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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