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

CWH43 Gene

protein-coding   GIFtS: 39
GCID: GC04P048988

cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)

  Search for CWH43
in our new
 Human Malady Compendium 
Biological research products
for CWH43
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cell Wall Biogenesis 43 C-Terminal Homolog (S. Cerevisiae)1 2
CWH43-C1 2
Cell Wall Biogenesis Protein 43 C-Terminal Homolog2 3
FLJ215111
PGAP2-Interacting Protein2
PGAP2IP3

External Ids:    HGNC: 261331   Entrez Gene: 801572   Ensembl: ENSG000001091827   UniProtKB: Q9H7203   

Export aliases for CWH43 gene to outside databases

Previous GC identifers: GC04P048684 GC04P048308


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

UniProtKB/Swiss-Prot: PG2IP_HUMAN, Q9H720
Function: Involved in lipid remodeling during GPI-anchor maturation (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CWH43
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CWH43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CWH43


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

Entrez Gene cytogenetic band: 4p11   Ensembl cytogenetic band:  4p11   HGNC cytogenetic band: 4p12-p11

CWH43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CWH43 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P048988:  view genomic region     (about GC identifiers)

Start:
48,988,264 bp from pter      End:
49,064,098 bp from pter
Size:
75,835 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PG2IP_HUMAN, Q9H720 (See protein sequence)
Recommended Name: PGAP2-interacting protein  
Size: 699 amino acids; 78584 Da
Subunit: Interacts with PGAP2/FRAG1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2RPD7

Explore the universe of human proteins at neXtProt for CWH43: NX_Q9H720

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H720

  • CWH43 Protein expression data from MOPED and PaxDb:    About this image 
    CWH43 Protein Expression
    REFSEQ proteins: NP_079363.2  
    ENSEMBL proteins: 
     ENSP00000226432   ENSP00000425157   ENSP00000422802  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    CWH43 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CWH43 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005135 Endo/exonuclease/phosphatase

    Graphical View of Domain Structure for InterPro Entry Q9H720

    ProtoNet protein and cluster: Q9H720

    UniProtKB/Swiss-Prot: PG2IP_HUMAN, Q9H720
    Similarity: Belongs to the PGAP2IP family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PG2IP_HUMAN, Q9H720
    Function: Involved in lipid remodeling during GPI-anchor maturation (By similarity)

    Animal Models:

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CWH43

    5/22 Interacting proteins for CWH43 (Q9H7203) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG10BQ5I7T13I2D: score=1 
    ALG5Q9Y6733I2D: score=1 
    ASNA1O436813I2D: score=1 
    ATP8A1Q9Y2Q03I2D: score=1 
    CANXP278243I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006506GPI anchor biosynthetic process IEA--

    CWH43 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CWH43
    Search CenterWatch for drugs/clinical trials and news about CWH43 / PG2IP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for CWH43 gene: 
    NM_025087.2  

    Unigene Cluster for CWH43:

    Cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)
    Hs.479703  [show with all ESTs]
    Unigene Representative Sequence: AK025164
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226432(uc003gyv.3) ENST00000514053 ENST00000513409(uc011bzl.2)
    ENST00000506221 ENST00000507372

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CWH43:
    hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidCWH43 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK025164.1 AK300495.1 AK316307.1 BC137387.1 BC137388.1 

    1 DOTS entry:

    DT.75101082 

    21 AceView cDNA sequences:

    AI377551 AA863019 AA195718 BX954769 AI812045 BQ954070 AK025164 BG696417 
    NM_025087 AW572339 AI962905 AA369925 AI373245 AI868470 AI826824 AW235545 
    BG193159 AW589434 AA195754 BI001197 BE180939 

    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

    CWH43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAACCTCA
    CWH43 Expression
    About this image
    See CWH43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CWH43

    SOURCE GeneReport for Unigene cluster: Hs.479703
        SABiosciences Custom PCR Arrays for CWH43

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CWH43

    (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 animals and fungi.

    Orthologs for CWH43 gene from 3/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cwh431 , 5 cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)1, 5 82.4(n)1
    82.98(a)1
      5 (38.78 cM)5
    2312931  NM_181323.21  NP_851840.11 
     734060765 
    chicken
    (Gallus gallus)
    Aves CWH431 cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 70.73(n)
    67.86(a)
      422763  XM_420716.3  XP_420716.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CWH43(YCR017C)4
    CWH431
    Putative sensor/transporter protein involved in cell more4
    Cwh43p1
    43.17(n)1
    31.96(a)1
      3(147634-144773)4
    8503761, 4  NP_009943.21, 4 


    ENSEMBL Gene Tree for CWH43 (if available)
    TreeFam Gene Tree for CWH43 (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, UniProtKB, 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

    10/1147 NCBI SNPs in CWH43 are shown (see all 1147    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159873251,2
    F--48986319(+) CCTCAT/AGTTTC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs68112051,2
    C,A,H--48986359(+) AACACA/GTGGCC 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs26052431,2
    C,F,A,H--48986403(-) GCCCCC/TCTGCG 1 -- us2k15Minor allele frequency- T:0.37NA WA EA 362
    rs1809347901,2
    --48986406(+) AGGGGC/GGCTGG 1 -- us2k10--------
    rs1154556731,2
    F--48986419(+) GCTAGG/AGGAGA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1845970751,2
    --48986481(+) AAACCG/TCCATG 1 -- us2k10--------
    rs1887519951,2
    --48986499(+) TATACC/TTATGT 1 -- us2k10--------
    rs1416619041,2
    --48986708(+) TTACTC/TTGATG 1 -- us2k10--------
    rs1500921981,2
    --48986770(+) CATTTC/TGAGTT 1 -- us2k10--------
    rs1813742261,2
    --48986823(+) TTTGCA/GTACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CWH43 (48988264 - 49064098 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CWH43
         3 CNVs: 39364 38558 3493

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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.)
    About This Section
      --

    (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 CWH43 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CWH43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Saccharomyces cerevisiae CWH43 is involved in the rem odeling of the lipid moiety of GPI anchors to ceramides. (PubMed id 17761529)1, 3 Umemura M....Jigami Y. (2007)
    2. CWH43 is required for the introduction of ceramides i nto GPI anchors in Saccharomyces cerevisiae. (PubMed id 17714445)1, 3 Ghugtyal V....Conzelmann A. (2007)
    3. Serum ferritin levels are associated with a distinct p henotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PubMed id 22095909)1 Lange C.M....Bochud P.Y. (2012)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    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. (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: 80157 HGNC: 26133 AceView: FLJ21511 Ensembl:ENSG00000109182 euGenes: HUgn80157
    ECgene: CWH43 H-InvDB: CWH43

    (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 CWH43 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 CWH43 gene:
    Search GeneIP for patents involving CWH43

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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