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 fusio... See more...

Aliases for POC1B-GALNT4 Gene

Aliases for POC1B-GALNT4 Gene

  • POC1B-GALNT4 Readthrough 2 3 5 13
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 4 3
  • Polypeptide N-Acetylgalactosaminyltransferase 4 3
  • Protein-UDP Acetylgalactosaminyltransferase 4 3
  • Polypeptide N-Acetylgalactosaminyltransferase 13
  • Protein-UDP Acetylgalactosaminyltransferase 13
  • Polypeptide GalNAc Transferase 4 3
  • POC1B-GALNT4 Protein 3
  • POC1B-GALNT4 Fusion 3
  • Pp-GaNTase 4 3
  • EC 2.4.1.- 4
  • GalNAc-T4 3
  • GALNT4 3

External Ids for POC1B-GALNT4 Gene

Previous GeneCards Identifiers for POC1B-GALNT4 Gene

  • GC12U901524
  • GC12M089914

Summaries for POC1B-GALNT4 Gene

Entrez Gene Summary for POC1B-GALNT4 Gene

  • 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]

GeneCards Summary for POC1B-GALNT4 Gene

POC1B-GALNT4 (POC1B-GALNT4 Readthrough) is a Protein Coding gene. Among its related pathways are Metabolism and Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and transferase activity, transferring glycosyl groups. An important paralog of this gene is GALNT4.

Additional gene information for POC1B-GALNT4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POC1B-GALNT4 Gene

Genomics for POC1B-GALNT4 Gene

GeneHancer (GH) Regulatory Elements for POC1B-GALNT4 Gene

Promoters and enhancers for POC1B-GALNT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J089521 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.6 +2.0 2034 5.9 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF SIX5 ZBTB6 RBPJ SMARCE1 GALNT4 POC1B POC1B-AS1 lnc-GALNT4-1 ENSG00000258302 DUSP6 POC1B-GALNT4 piR-54764-127
GH12J089529 Enhancer 0.6 ENCODE 0.6 -3.7 -3677 0.2 CTCF MAX RAD21 ELF3 ARID2 REST TRIM22 FOXK2 FOXA2 SMC3 DUSP6 POC1B POC1B-GALNT4 RF00017-1200 POC1B-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POC1B-GALNT4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for POC1B-GALNT4 Gene

Genomic Locations for POC1B-GALNT4 Gene
chr12:89,519,408-89,526,262
(GRCh38/hg38)
Size:
6,855 bases
Orientation:
Minus strand
chr12:89,913,185-89,920,039
(GRCh37/hg19)
Size:
6,855 bases
Orientation:
Minus strand

Genomic View for POC1B-GALNT4 Gene

Genes around POC1B-GALNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POC1B-GALNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POC1B-GALNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POC1B-GALNT4 Gene

Proteins for POC1B-GALNT4 Gene

  • Protein details for POC1B-GALNT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F8VZB3-F8VZB3_HUMAN
    Recommended name:
    POC1B-GALNT4 readthrough
    Protein Accession:
    F8VZB3

    Protein attributes for POC1B-GALNT4 Gene

    Size:
    42 amino acids
    Molecular mass:
    4501 Da
    Quaternary structure:
    No Data Available
  • Protein details for POC1B-GALNT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F8VUJ3-F8VUJ3_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase
    Protein Accession:
    F8VUJ3

    Protein attributes for POC1B-GALNT4 Gene

    Size:
    575 amino acids
    Molecular mass:
    66238 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for POC1B-GALNT4 Gene

Post-translational modifications for POC1B-GALNT4 Gene

No Post-translational modifications

Other Protein References for POC1B-GALNT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POC1B-GALNT4 Gene

Domains & Families for POC1B-GALNT4 Gene

Gene Families for POC1B-GALNT4 Gene

Unknown:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POC1B-GALNT4 Gene

genes like me logo Genes that share domains with POC1B-GALNT4: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POC1B-GALNT4 Gene

Function for POC1B-GALNT4 Gene

Enzyme Numbers (IUBMB) for POC1B-GALNT4 Gene

Phenotypes From GWAS Catalog for POC1B-GALNT4 Gene

Gene Ontology (GO) - Molecular Function for POC1B-GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with POC1B-GALNT4: view

Phenotypes for POC1B-GALNT4 Gene

genes like me logo Genes that share phenotypes with POC1B-GALNT4: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POC1B-GALNT4 Gene

Localization for POC1B-GALNT4 Gene

Gene Ontology (GO) - Cellular Components for POC1B-GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POC1B-GALNT4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for POC1B-GALNT4 Gene

Pathways & Interactions for POC1B-GALNT4 Gene

PathCards logo

SuperPathways for POC1B-GALNT4 Gene

genes like me logo Genes that share pathways with POC1B-GALNT4: view

Pathways by source for POC1B-GALNT4 Gene

2 KEGG pathways for POC1B-GALNT4 Gene

UniProtKB/Swiss-Prot F8VUJ3-F8VUJ3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for POC1B-GALNT4 Gene

Gene Ontology (GO) - Biological Process for POC1B-GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with POC1B-GALNT4: view

No data available for SIGNOR curated interactions for POC1B-GALNT4 Gene

Drugs & Compounds for POC1B-GALNT4 Gene

No Compound Related Data Available

Transcripts for POC1B-GALNT4 Gene

mRNA/cDNA for POC1B-GALNT4 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for POC1B-GALNT4 Gene

No ASD Table

Relevant External Links for POC1B-GALNT4 Gene

GeneLoc Exon Structure for
POC1B-GALNT4
ECgene alternative splicing isoforms for
POC1B-GALNT4

Expression for POC1B-GALNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POC1B-GALNT4 Gene

genes like me logo Genes that share expression patterns with POC1B-GALNT4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POC1B-GALNT4 Gene

Orthologs for POC1B-GALNT4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POC1B-GALNT4 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Galnt4 33
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii poc1bl 33
  • 70 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 33
  • 61 (a)
OneToMany
Species where no ortholog for POC1B-GALNT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POC1B-GALNT4 Gene

ENSEMBL:
Gene Tree for POC1B-GALNT4 (if available)
TreeFam:
Gene Tree for POC1B-GALNT4 (if available)

Paralogs for POC1B-GALNT4 Gene

(27) SIMAP similar genes for POC1B-GALNT4 Gene using alignment to 2 proteins:

  • F8VUJ3_HUMAN
  • F8VZB3_HUMAN
genes like me logo Genes that share paralogs with POC1B-GALNT4: view

Variants for POC1B-GALNT4 Gene

Sequence variations from dbSNP and Humsavar for POC1B-GALNT4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs863223348 likely-pathogenic, Childhood-Onset Schizophrenia 89,523,356(-) G/A coding_sequence_variant, synonymous_variant
rs1000403457 -- 89,522,797(-) A/C/G 3_prime_UTR_variant
rs1000437746 -- 89,524,241(-) A/G coding_sequence_variant, intron_variant, synonymous_variant
rs1000683978 -- 89,524,504(-) C/G/T intron_variant
rs1000797650 -- 89,519,452(-) AATCAA/AA 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for POC1B-GALNT4 Gene

Variant ID Type Subtype PubMed ID
nsv832479 CNV gain 17160897

Variation tolerance for POC1B-GALNT4 Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POC1B-GALNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POC1B-GALNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POC1B-GALNT4 Gene

Disorders for POC1B-GALNT4 Gene

Additional Disease Information for POC1B-GALNT4

No disorders were found for POC1B-GALNT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POC1B-GALNT4 Gene

Publications for POC1B-GALNT4 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 56
  3. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 13 56

Products for POC1B-GALNT4 Gene

Sources for POC1B-GALNT4 Gene