U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 80157, updated on 22-Sep-2022

Summary

Go to the top of the page Help
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 be integral component of membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 20.1), skin (RPKM 10.7) and 5 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CWH43 in Genome Data Viewer
Location:
4p11
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48986275..49062079)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (48952880..49028711)
105.20220307 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 triosephosphate isomerase 1 pseudogene 4 Neighboring gene uncharacterized LOC101927209 Neighboring gene sorting nexin 18 pseudogene Neighboring gene sorting nexin 18 pseudogene 23

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Saccharomyces cerevisiae CWH43 is involved in the remodeling of the lipid moiety of GPI anchors to ceramides. Umemura M, et al. Mol Biol Cell, 2007 Nov. PMID 17761529, Free PMC Article
  2. CWH43 is required for the introduction of ceramides into GPI anchors in Saccharomyces cerevisiae. Ghugtyal V, et al. Mol Microbiol, 2007 Sep. PMID 17714445
  3. Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus. Yang D, et al. Proc Natl Acad Sci U S A, 2021 Aug 17. PMID 34380733, Free PMC Article
  4. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. Lange CM, et al. Hepatology, 2012 Apr. PMID 22095909
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

See all (9) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
    Title: Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ21511

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
PGAP2-interacting protein
Names
cell wall biogenesis protein 43 C-terminal homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001286791.2 → NP_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/Swiss-Prot
    Q9H720
    UniProtKB/TrEMBL
    B4DU47, B7ZAJ2, E7EQL2
    Related
    ENSP00000422802.1, ENST00000513409.1
    Conserved Domains (2) summary
    pfam03372
    Location:424 → 553
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:92 → 276
    CobS; Cobalamin-5-phosphate synthase

  2. NM_025087.3 → NP_079363.2  PGAP2-interacting protein isoform 1

    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
    Related
    ENSP00000226432.4, ENST00000226432.9
    Conserved Domains (2) summary
    pfam03372
    Location:451 → 580
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:119 → 303
    CobS; Cobalamin-5-phosphate synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011513755.2 → XP_011512057.1  PGAP2-interacting protein isoform X1

    Conserved Domains (2) summary
    pfam03372
    Location:451 → 579
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:119 → 303
    CobS; Cobalamin-5-phosphate synthase

  2. XM_011513758.2 → XP_011512060.1  PGAP2-interacting protein isoform X3

    Conserved Domains (1) summary
    pfam03372
    Location:365 → 493
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

  3. XM_011513757.3 → XP_011512059.1  PGAP2-interacting protein isoform X2

    Conserved Domains (2) summary
    pfam03372
    Location:424 → 552
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:92 → 276
    CobS; Cobalamin-5-phosphate synthase

  4. XM_011513756.4 → XP_011512058.1  PGAP2-interacting protein isoform X2

    Conserved Domains (2) summary
    pfam03372
    Location:424 → 552
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:92 → 276
    CobS; Cobalamin-5-phosphate synthase

  5. XM_011513759.1 → XP_011512061.1  PGAP2-interacting protein isoform X4

    Conserved Domains (2) summary
    pfam01006
    Location:7 → 46
    HCV_NS4a; Hepatitis C virus non-structural protein NS4a
    pfam03372
    Location:263 → 391
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H720.2 GenPept UniProtKB/Swiss-Prot:Q9H720

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous