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HCFC1R1 Gene

protein-coding   GIFtS: 43
GCID: GC16M003072

Host Cell Factor C1 Regulator 1 (XPO1 Dependent)

(Previous name: host cell factor C1 regulator 1 (XPO1 dependant))
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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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

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

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

Export aliases for HCFC1R1 gene to outside databases

Previous GC identifers: GC16M003012 GC16M003045


(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 HCFC1R1 Gene:
HCFC1R1 (host cell factor C1 regulator 1 (XPO1 dependent)) is a protein-coding gene.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: HPIP_HUMAN, Q9NWW0 (See protein sequence)
Recommended Name: Host cell factor C1 regulator 1  
Size: 138 amino acids; 15291 Da
Subunit: Interacts with HCFC1
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


See HCFC1R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (7 alternative transcripts): 
NP_001002017.1  NP_001002018.1  NP_001275594.1  NP_001275595.1  NP_001275596.1  NP_001275597.1  NP_060355.1  

ENSEMBL proteins: 
 ENSP00000248089   ENSP00000459178   ENSP00000458971   ENSP00000460639   ENSP00000346708  
 ENSP00000458628   ENSP00000380123  

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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: Q9NWW0


(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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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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(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 UniProtKB/Swiss-Prot
HPIP_HUMAN, Q9NWW0: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent
manner
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
mitochondrion2
cytosol1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with HCFC1R1           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 HCFC1R1
Interactions:

    GeneGlobe Interaction 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, 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 Tocris compounds for 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,
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,
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REFSEQ mRNAs for HCFC1R1 gene (7 alternative transcripts): 
NM_001002017.2  NM_001002018.2  NM_001288665.1  NM_001288666.1  NM_001288667.1  NM_001288668.1  NM_017885.3  

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)
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  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 

Selected AceView cDNA sequences (see all 193):

CF541056 BM743069 CR594889 BM795438 W81387 AW328289 BM563291 BU733829 
BC064026 BM687339 NM_017885 BM769833 NM_001002018 BQ052173 BM672484 CA422138 
AI685684 AA127040 BQ929195 AA369310 AA978265 BX111176 AW250779 BM790570 

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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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

HCFC1R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HCFC1R1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.423103

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

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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for HCFC1R1 gene from Selected 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 83.19(n)1
84.87(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)
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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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1 SNPs for HCFC1R1    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs105081,2,4
----see VAR_0438492 mis40--------

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

Structural Variations
     Database of Genomic Variants (DGV) Selected 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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Find genes that share disorders with HCFC1R1           About GenesLikeMe

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)
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PubMed articles for HCFC1R1 gene, integrated from 10 sources (see all 12):
(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. (J. Biol. Chem. 2002)
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 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. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
  9. 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)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

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

(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 HCFC1R1 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 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, 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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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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