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Aliases for POC1B-GALNT4 Gene

Aliases for POC1B-GALNT4 Gene

  • POC1B-GALNT4 Readthrough 2 3 5

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. Diseases associated with POC1B-GALNT4 include Hypophosphatemic Rickets With Hypercalciuria. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism. 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POC1B-GALNT4 Gene

Genomics for POC1B-GALNT4 Gene

Regulatory Elements for POC1B-GALNT4 Gene

Enhancers for POC1B-GALNT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H089529 0.7 ENCODE 0.7 -3.7 -3677 0 CTCF ZNF654 FOXA2 FOXA3 TRIM22 MAX REST RAD21 ZNF592 FOXA1 DUSP6 POC1B-GALNT4 POC1B ENSG00000279939
GH12H089542 1.1 Ensembl ENCODE 0.4 -16.9 -16939 0 HDAC1 CTCF ATF1 ARNT NFXL1 RAD21 CC2D1A GATA3 GATA2 SMC3 ENSG00000279939 POC1B POC1B-GALNT4
GH12H089540 0.9 ENCODE 0.4 -14.4 -14437 0 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 GATA2 EGR1 ATF7 ENSG00000258302 ENSG00000279939 POC1B POC1B-GALNT4
GH12H089536 0.6 dbSUPER 0.4 -12.1 -12108 2 TAL1 HLF CEBPG ATF2 TCF12 GATA3 KDM1A ATF7 ENSG00000258302 GALNT4 POC1B-AS1 ENSG00000279939 POC1B POC1B-GALNT4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Promoters for POC1B-GALNT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000055080 862 2801 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for POC1B-GALNT4 Gene

Chromosome:
12
Start:
89,519,408 bp from pter
End:
89,526,262 bp from pter
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:
    F8VUJ3
    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
  • Protein details for POC1B-GALNT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F8VZB3
    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

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POC1B-GALNT4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for POC1B-GALNT4 Gene

Function 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

Clone Products

  • Applied Biological Materials Clones for POC1B-GALNT4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POC1B-GALNT4 Gene

Localization for POC1B-GALNT4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POC1B-GALNT4 gene
Compartment Confidence
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
See all subcellular structures

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
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 for POC1B-GALNT4 Gene

Pathways & Interactions 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

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) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for POC1B-GALNT4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 34
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii poc1bl 34
  • 70 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 34
  • 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

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 Sequence Context AA Info Type
rs863223348 Likely pathogenic 89,523,356(-) AGAAA(C/T)CCTCC intron-variant, reference, synonymous-codon
rs1000403457 -- 89,522,797(+) TGACG(A/C)AAGTG intron-variant, utr-variant-3-prime
rs1000437746 -- 89,524,241(+) TAAAT(A/G)TTGAT intron-variant, reference, synonymous-codon
rs1000683978 -- 89,524,504(+) AAACG(C/T)CAGCA intron-variant, reference, missense
rs1000797650 -- 89,519,452(+) ATCTT(-/AATC)AACAT intron-variant, utr-variant-3-prime

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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for POC1B-GALNT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypophosphatemic rickets with hypercalciuria
  • hereditary hypophosphatemic rickets with hypercalciuria
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POC1B-GALNT4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POC1B-GALNT4
genes like me logo Genes that share disorders with POC1B-GALNT4: view

No data available for 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 60
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 60

Products for POC1B-GALNT4 Gene

Sources for POC1B-GALNT4 Gene

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