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    CWH43 cell wall biogenesis 43 C-terminal homolog [ Homo sapiens (human) ]

    Gene ID: 80157, updated on 14-Nov-2024

    Summary

    Official Symbol
    CWH43provided by HGNC
    Official Full Name
    cell wall biogenesis 43 C-terminal homologprovided by HGNC
    Primary source
    HGNC:HGNC:26133
    See related
    Ensembl:ENSG00000109182 MIM:618561; AllianceGenome:HGNC:26133
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CWH43-C; PGAP2IP
    Summary
    Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; establishment of protein localization; and protein N-linked glycosylation. Predicted to be located in extracellular region and membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 20.1), skin (RPKM 10.7) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CWH43 in Genome Data Viewer
    Location:
    4p11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48986275..49062079)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (48952880..49028711)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (48988292..49064096)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA70 Neighboring gene RNA, U6 small nuclear 158, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21551 Neighboring gene triosephosphate isomerase 1 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49092970-49093748 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49093749-49094527 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49094528-49095306 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49095307-49096084 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49096085-49096864 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49096865-49097642 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49097643-49098421 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49098422-49099199 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49099200-49099978 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49099979-49100757 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49100758-49101536 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49101537-49102314 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49102315-49103094 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49103095-49103872 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49103873-49104650 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49104651-49105428 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49105429-49106208 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49106209-49106986 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49106987-49107766 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49107767-49108544 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49108545-49109324 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49109325-49110102 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49110103-49110880 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49110881-49111658 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49111659-49112438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49112439-49113216 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49113217-49113994 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49113995-49114772 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49115553-49116330 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49114773-49115552 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49116331-49117108 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49117109-49117886 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49118401-49119098 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49119099-49119795 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49119796-49120492 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49120493-49121189 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49121190-49121887 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49121888-49122584 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49122585-49123281 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49123282-49123977 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49124676-49125372 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49123978-49124675 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49125373-49126070 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49126071-49126766 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49126767-49127464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49127465-49128160 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49128161-49128857 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49128858-49129553 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49131647-49132342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49132343-49133040 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49133737-49134434 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49134435-49135130 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49135131-49135828 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49135829-49136524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49136525-49137222 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49137223-49137918 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49139313-49140009 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49140010-49140705 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49140766-49141340 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49141341-49141914 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49143063-49143636 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49142489-49143062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:49143637-49144210 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49144785-49145357 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49145444-49146282 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49146283-49147119 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49147120-49147957 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:49147958-49148794 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49148795-49149632 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49149633-49150470 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49150471-49151308 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49151309-49152144 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:49152255-49152881 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:49152882-49153507 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49153693-49154210 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49154805-49155794 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49155795-49156783 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:49156784-49157772 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:49157773-49158761 Neighboring gene uncharacterized LOC101927209 Neighboring gene OCT4 hESC enhancer GRCh37_chr4:49168367-49168868 Neighboring gene sorting nexin 18 pseudogene Neighboring gene sorting nexin 18 pseudogene 23

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    EBI GWAS Catalog

    Description
    Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ21511

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process  
    involved_in brain development  
    involved_in cell adhesion  
    involved_in cerebrospinal fluid circulation  
    involved_in cilium organization  
    involved_in membrane protein ectodomain proteolysis  
    involved_in neuromuscular process controlling balance  
    involved_in peptide secretion  
    involved_in protein N-linked glycosylation  
    involved_in protein import into nucleus  
    involved_in protein localization to extracellular region  
    involved_in protein targeting to membrane  
    involved_in regulation of intracellular signal transduction  
    involved_in regulation of protein import into nucleus  
    involved_in regulation of protein processing  
    involved_in walking behavior  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum  
    located_in extracellular region  
    located_in membrane  

    General protein information

    Preferred Names
    PGAP2-interacting protein
    Names
    cell wall biogenesis protein 43 C-terminal homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286791.2NP_001273720.1  PGAP2-interacting protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon and a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC020593, AK025164, AK300495, AK316307
      Consensus CDS
      CCDS68697.1
      UniProtKB/TrEMBL
      B7ZAJ2, E7EQL2
      Related
      ENSP00000422802.1, ENST00000513409.1
      Conserved Domains (2) summary
      pfam03372
      Location:424553
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
      cl00415
      Location:92276
      CobS; Cobalamin-5-phosphate synthase
    2. NM_025087.3NP_079363.2  PGAP2-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_079363.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC020593, AI377551, AK025164, DA426878
      Consensus CDS
      CCDS3486.1
      UniProtKB/Swiss-Prot
      B2RPD7, Q9H720
      UniProtKB/TrEMBL
      B7ZAJ2
      Related
      ENSP00000226432.4, ENST00000226432.9
      Conserved Domains (2) summary
      pfam03372
      Location:451580
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
      cl00415
      Location:119303
      CobS; Cobalamin-5-phosphate synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      48986275..49062079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513755.2XP_011512057.1  PGAP2-interacting protein isoform X1

      UniProtKB/TrEMBL
      B7ZAJ2
      Conserved Domains (2) summary
      pfam03372
      Location:451579
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
      cl00415
      Location:119303
      CobS; Cobalamin-5-phosphate synthase
    2. XM_011513758.2XP_011512060.1  PGAP2-interacting protein isoform X3

      UniProtKB/TrEMBL
      B7ZAJ2
      Conserved Domains (1) summary
      pfam03372
      Location:365493
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    3. XM_011513757.3XP_011512059.1  PGAP2-interacting protein isoform X2

      See identical proteins and their annotated locations for XP_011512059.1

      UniProtKB/TrEMBL
      B7ZAJ2
      Conserved Domains (2) summary
      pfam03372
      Location:424552
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
      cl00415
      Location:92276
      CobS; Cobalamin-5-phosphate synthase
    4. XM_011513756.4XP_011512058.1  PGAP2-interacting protein isoform X2

      See identical proteins and their annotated locations for XP_011512058.1

      UniProtKB/TrEMBL
      B7ZAJ2
      Conserved Domains (2) summary
      pfam03372
      Location:424552
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
      cl00415
      Location:92276
      CobS; Cobalamin-5-phosphate synthase
    5. XM_011513759.1XP_011512061.1  PGAP2-interacting protein isoform X4

      Conserved Domains (2) summary
      pfam01006
      Location:746
      HCV_NS4a; Hepatitis C virus non-structural protein NS4a
      pfam03372
      Location:263391
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      48952880..49028711
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350891.1XP_054206866.1  PGAP2-interacting protein isoform X1

    2. XM_054350894.1XP_054206869.1  PGAP2-interacting protein isoform X3

    3. XM_054350893.1XP_054206868.1  PGAP2-interacting protein isoform X2

    4. XM_054350892.1XP_054206867.1  PGAP2-interacting protein isoform X2

    5. XM_054350895.1XP_054206870.1  PGAP2-interacting protein isoform X4

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