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    CHPF chondroitin polymerizing factor [ Homo sapiens (human) ]

    Gene ID: 79586, updated on 14-Nov-2024

    Summary

    Official Symbol
    CHPFprovided by HGNC
    Official Full Name
    chondroitin polymerizing factorprovided by HGNC
    Primary source
    HGNC:HGNC:24291
    See related
    Ensembl:ENSG00000123989 MIM:610405; AllianceGenome:HGNC:24291
    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
    CSS2; CHPF1; CHSY2
    Summary
    Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 33.7), placenta (RPKM 25.6) and 24 other tissues See more
    Orthologs
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    Genomic context

    See CHPF in Genome Data Viewer
    Location:
    2q35
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219538954..219543809, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220023653..220028508, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220403676..220408531, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17153 Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene acid sensing ion channel subunit family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12360 Neighboring gene transmembrane protein 198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417356-220417856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417857-220418357 Neighboring gene microRNA 3132 Neighboring gene obscurin like cytoskeletal adaptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220422411-220422601 Neighboring gene Sharpr-MPRA regulatory region 8831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220425347-220426210 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220429659-220430520 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220430521-220431382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220431383-220432244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220434367-220435204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220435205-220436042 Neighboring gene Sharpr-MPRA regulatory region 8639 Neighboring gene inhibin subunit alpha

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22678

    Gene Ontology Provided by GOA

    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 cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    chondroitin sulfate synthase 2
    Names
    N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II
    N-acetylgalactosaminyltransferase 2
    chondroitin glucuronyltransferase 2
    glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II
    NP_001182660.2
    NP_078812.3
    XP_011510140.1
    XP_054199868.1

    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_001195731.2NP_001182660.2  chondroitin sulfate synthase 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC009955
      Consensus CDS
      CCDS56169.1
      Related
      ENSP00000445571.1, ENST00000535926.3
      Conserved Domains (2) summary
      pfam05679
      Location:100600
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:32142
      Galactosyl_T; Galactosyltransferase
    2. NM_024536.6NP_078812.3  chondroitin sulfate synthase 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009955
      Consensus CDS
      CCDS2443.1
      UniProtKB/Swiss-Prot
      B4DXU0, Q6UXD6, Q7L4G1, Q8IZ52, Q9H0F8, Q9H618
      UniProtKB/TrEMBL
      A0A8I5QJC8
      Related
      ENSP00000243776.6, ENST00000243776.11
      Conserved Domains (2) summary
      pfam05679
      Location:262762
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:194304
      Galactosyl_T; Galactosyltransferase

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219538954..219543809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511838.4XP_011510140.1  chondroitin sulfate synthase 2 isoform X1

      Conserved Domains (1) summary
      pfam05679
      Location:3471
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      220023653..220028508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343893.1XP_054199868.1  chondroitin sulfate synthase 2 isoform X1