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CWH43 Gene

protein-coding   GIFtS: 43
GCID: GC04P048988

Cell Wall Biogenesis 43 C-Terminal Homolog (S. Cerevisiae)

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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
Cell Wall Biogenesis 43 C-Terminal Homolog (S. Cerevisiae)1 2
Cell Wall Biogenesis Protein 43 C-Terminal Homolog2 3
CWH43-C2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CWH43 Gene:
CWH43 (cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)) is a protein-coding gene.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006238.12  NC_018915.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CWH43
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: PG2IP_HUMAN, Q9H720 (See protein sequence)
Recommended Name: PGAP2-interacting protein  
Size: 699 amino acids; 78584 Da
Subunit: Interacts with PGAP2/FRAG1 (By similarity)
Secondary accessions: B2RPD7

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

Explore proteomics data for CWH43 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn455

  • See CWH43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273720.1  NP_079363.2  

    ENSEMBL proteins: 
     ENSP00000226432   ENSP00000425157   ENSP00000422802  

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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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    2 InterPro protein domains:
     IPR027317 PGAP2IP
     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


    Find genes that share domains with CWH43           About GenesLikeMe


    (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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    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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    (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
    PG2IP_HUMAN, Q9H720: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CWH43           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 CWH43
    Interactions:

        Search GeneGlobe Interaction Network for CWH43

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CWH43 (Q9H7203 ENSP000002264324) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with CWH43           About GenesLikeMe



    (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 CWH43 (PG2IP)



    (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 CWH43 gene (2 alternative transcripts): 
    NM_001286791.1  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
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    hsa-miR-578
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.75101082 

    21 AceView cDNA sequences:

    AI377551 BX954769 AA195718 AA863019 AI812045 AA369925 AW572339 NM_025087 
    BQ954070 AI868470 AK025164 AI962905 AI373245 BG696417 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™, 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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    CWH43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAACCTCA
    CWH43 Expression
    About this image


    CWH43 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Hair (Integumentary System)
             Bulge Stem Cells Bulge
     
     Epidermis (Integumentary System)
    CWH43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CWH43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479703
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CWH43 gene from Selected species (see all 13)    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_420716.4  XP_420716.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CWH43(YCR017C)4
    CWH431
    Putative sensor/transporter protein involved in cell more4
    CWH431
    44.1(n)1
    32.92(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)
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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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    Selected SNPs for CWH43 (see all 1407)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558154611,2
    C--48318168(+) ACACA-/CACACA
            
    CATAT
    1 -- int11Minor allele frequency- CACACA:0.00NA 2
    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
    C--48986708(+) TTACTC/TTGATG 1 -- us2k10--------
    rs1500921981,2
    --48986770(+) CATTTC/TGAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CWH43 (48988264 - 49064098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CWH43:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428442CNV Loss18775914
    nsv879010CNV Loss21882294
    nsv441875CNV CNV18776908
    dgv1618e1CNV Complex17122850

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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 CWH43           About GenesLikeMe

    Genetic Association Database (GAD): CWH43

    Export disorders for CWH43 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 CWH43 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CWH43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PubMed id 22095909)1, 4 Lange C.M....Bochud P.Y. (Hepatology 2012)
    2. CWH43 is required for the introduction of ceramides into GPI anchors in Saccharomyces cerevisiae. (PubMed id 17714445)1, 3 Ghugtyal V....Conzelmann A. (Mol. Microbiol. 2007)
    3. Saccharomyces cerevisiae CWH43 is involved in the remodeling of the lipid moiety of GPI anchors to ceramides. (PubMed id 17761529)1, 3 Umemura M....Jigami Y. (Mol. Biol. Cell 2007)
    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. (Genome Res. 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. (Nature 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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 80157 HGNC: 26133 AceView: FLJ21511 Ensembl:ENSG00000109182 euGenes: HUgn80157
    ECgene: CWH43 H-InvDB: CWH43

    (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 CWH43 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 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, 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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