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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CWH43 Is a Novel Tumor Suppressor Gene with Negative Regulation of TTK in Colorectal Cancer.
Title: CWH43 Is a Novel Tumor Suppressor Gene with Negative Regulation of TTK in Colorectal Cancer.
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

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82855 (e-PCR)
- UniSTS:102466

D4S253 (e-PCR)
- UniSTS:64602

L00893 (e-PCR)
- UniSTS:64603

D4S253 (e-PCR)
- UniSTS:64604

SHGC-51677 (e-PCR)
- UniSTS:59014

RH91856 (e-PCR)
- UniSTS:91785

D4S525 (e-PCR)
- UniSTS:76751

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in cilium organization	IEA Inferred from Electronic Annotation more info
involved_in membrane protein ectodomain proteolysis	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in peptide secretion	IEA Inferred from Electronic Annotation more info
involved_in protein N-linked glycosylation	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein localization to extracellular region	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein processing	IEA Inferred from Electronic Annotation more info
involved_in walking behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: PGAP2-interacting protein

Names: cell wall biogenesis protein 43 C-terminal homolog

NCBI Reference Sequences (RefSeq)

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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)

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/TrEMBL

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
NM_025087.3 → NP_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:451 → 580

Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

cl00415
Location:119 → 303

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

48986275..49062079

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B7ZAJ2

Conserved Domains (2) summary

pfam03372
Location:451 → 579

Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

cl00415
Location:119 → 303

CobS; Cobalamin-5-phosphate synthase
XM_011513758.2 → XP_011512060.1 PGAP2-interacting protein isoform X3

UniProtKB/TrEMBL

B7ZAJ2

Conserved Domains (1) summary

pfam03372
Location:365 → 493

Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family
XM_011513757.3 → XP_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:424 → 552

Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

cl00415
Location:92 → 276

CobS; Cobalamin-5-phosphate synthase
XM_011513756.4 → XP_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:424 → 552

Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

cl00415
Location:92 → 276

CobS; Cobalamin-5-phosphate synthase
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