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

Gene ID: 80157, updated on 1-Jun-2020

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
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
Expression
Biased expression in prostate (RPKM 20.1), skin (RPKM 10.7) and 5 other tissues See more
Orthologs

Genomic context

See CWH43 in Genome Data Viewer
Location:
4p11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (48986247..49062079)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (48988264..49064096)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene OCIA domain containing 2 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

Expression

  • 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

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ21511

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001286791.1NP_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: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
    Q9H720
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    48986247..49062079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    Conserved Domains (1) summary
    pfam03372
    Location:365493
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
  3. XM_011513757.2XP_011512059.1  PGAP2-interacting protein isoform X2

    See identical proteins and their annotated locations for XP_011512059.1

    Conserved Domains (2) summary
    pfam03372
    Location:424552
    Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
    cl00415
    Location:92276
    CobS; Cobalamin-5-phosphate synthase
  4. XM_011513756.3XP_011512058.1  PGAP2-interacting protein isoform X2

    See identical proteins and their annotated locations for XP_011512058.1

    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
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