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    CHPF2 chondroitin polymerizing factor 2 [ Homo sapiens (human) ]

    Gene ID: 54480, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CHPF2provided by HGNC
    Official Full Name
    chondroitin polymerizing factor 2provided by HGNC
    Primary source
    HGNC:HGNC:29270
    See related
    Ensembl:ENSG00000033100 MIM:608037; AllianceGenome:HGNC:29270
    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
    ChSy-3; chPF-2; CSGlcAT; CSGLCA-T
    Summary
    Predicted to enable glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Predicted to be involved in chondroitin sulfate biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 11.8), placenta (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHPF2 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151232483..151238822)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152405601..152411942)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150929569..150935908)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ABCF2-H2BK1 readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150910975-150912174 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:150916273-150916470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26854 Neighboring gene H2B.K variant histone 1 Neighboring gene ATP binding cassette subfamily F member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150930441-150931006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150932437-150932937 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:150936637-150937836 Neighboring gene uncharacterized LOC124901779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150938593-150939094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150941724-150942298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150942299-150942872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150942873-150943447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150943448-150944021 Neighboring gene Sharpr-MPRA regulatory region 13648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150949301-150950210 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit D3 Neighboring gene microRNA 671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150953220-150953720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150953721-150954221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150971756-150972555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150974709-150975418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151000420-151001278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26858 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:151038519-151039020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26859 Neighboring gene negative regulator of ubiquitin like proteins 1 Neighboring gene WD repeat domain 86

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. MEK-mediated CHPF2 phosphorylation promotes colorectal cancer cell proliferation and metastasis by activating NF-κB signaling. Wen X, et al. Cancer Lett, 2024 Mar 1. PMID 38253217
    2. Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine. Gotoh M, et al. J Biol Chem, 2002 Oct 11. PMID 12145278
    3. Exosomal lncRNA DUXAP8 affecting CHPF2 in the pathogenesis of intracranial aneurysms. Han L, et al. Gene, 2024 May 25. PMID 38341004
    4. Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members. Izumikawa T, et al. J Biol Chem, 2008 Apr 25. PMID 18316376
    5. Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer. Kalathas D, et al. Mol Med Rep, 2011 Mar-Apr. PMID 21468578

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosomal lncRNA DUXAP8 affecting CHPF2 in the pathogenesis of intracranial aneurysms.
      Title: Exosomal lncRNA DUXAP8 affecting CHPF2 in the pathogenesis of intracranial aneurysms.
    2. MEK-mediated CHPF2 phosphorylation promotes colorectal cancer cell proliferation and metastasis by activating NF-kappaB signaling.
      Title: MEK-mediated CHPF2 phosphorylation promotes colorectal cancer cell proliferation and metastasis by activating NF-κB signaling.
    3. The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer.
      Title: Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer.
    4. chondroitin polymerization is achieved by multiple combinations of ChSy-1, ChSy-2, CSGlcA-T, and ChPF and each combination may play a unique role in the biosynthesis of CS; CSGlcA-T is identified as chondroitin synthase-3 (ChSy-3)
      Title: Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members.
    5. Results describe a novel human gene that possesses homology with chondroitin synthase.
      Title: Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with CHPF2; predicted interaction to be within the Golgi PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chondroitin sulfate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    chondroitin sulfate glucuronyltransferase
    Names
    N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase
    chondroitin synthase-3
    NP_001271224.1
    NP_001376580.1
    NP_001376581.1
    NP_001376582.1
    NP_061888.1

    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)

    1. NM_001284295.2 → NP_001271224.1  chondroitin sulfate glucuronyltransferase isoform 2

      See identical proteins and their annotated locations for NP_001271224.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR and 5' coding region which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC021097, AI191668, AK056331
      Consensus CDS
      CCDS64803.1
      UniProtKB/TrEMBL
      B3KPG6, G5E9W2
      Related
      ENSP00000418914.1, ENST00000495645.5
      Conserved Domains (2) summary
      pfam05679
      Location:234 → 751
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:169 → 261
      Galactosyl_T; Galactosyltransferase

    2. NM_001389651.1 → NP_001376580.1  chondroitin sulfate glucuronyltransferase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC021097
      Consensus CDS
      CCDS94234.1
      UniProtKB/TrEMBL
      A0A8I5KRN5, B3KPG6
      Related
      ENSP00000509142.1, ENST00000692651.1
      Conserved Domains (2) summary
      pfam05679
      Location:242 → 698
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:177 → 269
      Galactosyl_T; Galactosyltransferase

    3. NM_001389652.1 → NP_001376581.1  chondroitin sulfate glucuronyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC021097
      Consensus CDS
      CCDS94233.1
      UniProtKB/TrEMBL
      B3KPG6, C9JZF7
      Related
      ENSP00000419769.2, ENST00000482173.6
      Conserved Domains (2) summary
      pfam05679
      Location:171 → 688
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:106 → 198
      Galactosyl_T; Galactosyltransferase

    4. NM_001389653.1 → NP_001376582.1  chondroitin sulfate glucuronyltransferase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC021097
      UniProtKB/TrEMBL
      B3KPG6
      Conserved Domains (2) summary
      pfam05679
      Location:171 → 627
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:106 → 198
      Galactosyl_T; Galactosyltransferase

    5. NM_019015.3 → NP_061888.1  chondroitin sulfate glucuronyltransferase isoform 1

      See identical proteins and their annotated locations for NP_061888.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC021097
      Consensus CDS
      CCDS34779.1
      UniProtKB/Swiss-Prot
      B2DBD8, Q6P2I4, Q6UXD2, Q9P2E5
      UniProtKB/TrEMBL
      B3KPG6
      Related
      ENSP00000035307.2, ENST00000035307.7
      Conserved Domains (2) summary
      pfam05679
      Location:242 → 759
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:177 → 269
      Galactosyl_T; Galactosyltransferase

    RNA

    1. NR_171547.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021097

    2. NR_171548.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021097

    3. NR_171549.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021097

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151232483..151238822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      152405601..152411942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2E5.2 GenPept UniProtKB/Swiss-Prot:Q9P2E5

    Gene LinkOut

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

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