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    POC1B-GALNT4 POC1B-GALNT4 readthrough [ Homo sapiens (human) ]

    Gene ID: 100528030, updated on 28-Oct-2024

    Summary

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    Official Symbol
    POC1B-GALNT4provided by HGNC
    Official Full Name
    POC1B-GALNT4 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42957
    See related
    Ensembl:ENSG00000259075 AllianceGenome:HGNC:42957
    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
    GALNT4; GalNAc-T4
    Summary
    This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in stomach (RPKM 16.0), colon (RPKM 14.9) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See POC1B-GALNT4 in Genome Data Viewer
    Location:
    12q21.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (89519412..89526262, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (89501268..89508118, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (89913189..89920039, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369889 Neighboring gene POC1 centriolar protein B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4692 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:89874798-89874988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:89897120-89897793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4693 Neighboring gene centromere protein C pseudogene 1 Neighboring gene POC1B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4695 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 4 Neighboring gene ATPase plasma membrane Ca2+ transporting 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4698 Neighboring gene uncharacterized LOC107984543 Neighboring gene ATP2B1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 365

    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 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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    2. TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. Demirdizen E, et al. Neuro Oncol, 2023 Jun 2. PMID 36215168, Free PMC Article
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ58458, DKFZp686D0362

    General protein information

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    Preferred Names
    POC1B-GALNT4 protein
    Names
    POC1B-GALNT4 fusion
    Polypeptide GalNAc transferase 4
    Polypeptide N-acetylgalactosaminyltransferase 4
    Protein-UDP acetylgalactosaminyltransferase 4
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4
    pp-GaNTase 4

    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.

    Genomic

    1. NG_054725.1 RefSeqGene

      Range
      5216..11851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199781.2 → NP_001186710.1  POC1B-GALNT4 protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which shares sequence identity with the products of both the POC1B and GALNT4 genes.
      Source sequence(s)
      AC010201, AC025034, BX647258, KF455691
      UniProtKB/TrEMBL
      F8VUJ3
      Related
      ENSP00000447852.1, ENST00000548729.5
      Conserved Domains (4) summary
      cd02510
      Location:135 → 429
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG0463
      Location:131 → 427
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cd00161
      Location:443 → 573
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:443 → 571
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    2. NM_001199782.1 → NP_001186711.1  POC1B-GALNT4 protein isoform 2

      See identical proteins and their annotated locations for NP_001186711.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate upstream start codon, differs in the 5' coding region, and uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) shares sequence identity with the GALNT4 gene product only, has a distinct N-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AC010201, AC025034, AK297677, BX647258, KF455691
      UniProtKB/Swiss-Prot
      Q8N4A0
      Conserved Domains (3) summary
      cd00161
      Location:274 → 404
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:274 → 402
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:121 → 260
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      89519412..89526262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      89501268..89508118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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