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Aliases for ERG28 Gene

Aliases for ERG28 Gene

  • Ergosterol Biosynthesis 28 Homolog 2 3 5
  • C14orf1 3 4
  • Probable Ergosterol Biosynthetic Protein 28 3
  • Chromosome 14 Open Reading Frame 1 2
  • NET51 3

External Ids for ERG28 Gene

Previous HGNC Symbols for ERG28 Gene

  • C14orf1

Summaries for ERG28 Gene

GeneCards Summary for ERG28 Gene

ERG28 (Ergosterol Biosynthesis 28 Homolog) is a Protein Coding gene. Diseases associated with ERG28 include Neuronal Ceroid Lipofuscinosis.

Gene Wiki entry for ERG28 Gene

Additional gene information for ERG28 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERG28 Gene

Genomics for ERG28 Gene

GeneHancer (GH) Regulatory Elements for ERG28 Gene

Promoters and enhancers for ERG28 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
GH14I075659 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 50 2.5 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 TTLL5 ERG28 GC14M075659 FLVCR2 GPATCH2L NEK9 FCF1 LOC102724153 YLPM1 MLH3
GH14I075497 Enhancer 0.9 FANTOM5 ENCODE 1.4 +163.7 163728 0.3 EBF1 BATF IRF4 RELA ETV6 IKZF2 RUNX3 ZNF687 CBFB ATF2 BATF JDP2 ERG28 LOC105370572 LOC101928377
GH14I075551 Enhancer 0.6 FANTOM5 dbSUPER 1.9 +110.0 109954 0.4 CTCF CBFA2T3 CEBPG BATF FLVCR2 LOC102724153 TTLL5 ERG28 PIR35535
GH14I075547 Enhancer 0.5 FANTOM5 dbSUPER 1.9 +113.2 113215 0.3 BATF LOC102724153 FLVCR2 JDP2 TTLL5 ERG28 PIR35535
GH14I075644 Enhancer 1.4 Ensembl ENCODE dbSUPER 0.4 +13.4 13417 7.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 FLVCR2 LOC102724153 TTLL5 BATF IFT43 GC14M075659 ERG28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERG28 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERG28 Gene

Genomic Locations for ERG28 Gene
chr14:75,649,791-75,661,195
(GRCh38/hg38)
Size:
11,405 bases
Orientation:
Minus strand
chr14:76,116,134-76,127,538
(GRCh37/hg19)

Genomic View for ERG28 Gene

Genes around ERG28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERG28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERG28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERG28 Gene

Proteins for ERG28 Gene

  • Protein details for ERG28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKR5-ERG28_HUMAN
    Recommended name:
    Probable ergosterol biosynthetic protein 28
    Protein Accession:
    Q9UKR5
    Secondary Accessions:
    • Q9P093
    • Q9UPI2

    Protein attributes for ERG28 Gene

    Size:
    140 amino acids
    Molecular mass:
    15864 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD51373.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAF28966.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ERG28 Gene

Post-translational modifications for ERG28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERG28 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERG28 Gene

Domains & Families for ERG28 Gene

Gene Families for ERG28 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ERG28 Gene

Suggested Antigen Peptide Sequences for ERG28 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKR5

UniProtKB/Swiss-Prot:

ERG28_HUMAN :
  • Belongs to the ERG28 family.
Family:
  • Belongs to the ERG28 family.
genes like me logo Genes that share domains with ERG28: view

Function for ERG28 Gene

Gene Ontology (GO) - Molecular Function for ERG28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0030674 protein binding, bridging IBA --
genes like me logo Genes that share ontologies with ERG28: view
genes like me logo Genes that share phenotypes with ERG28: view

Clone Products

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 ERG28 Gene

Localization for ERG28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERG28 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 ERG28 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERG28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10449901
GO:0030133 transport vesicle IDA --
genes like me logo Genes that share ontologies with ERG28: view

Pathways & Interactions for ERG28 Gene

SuperPathways for ERG28 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERG28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006696 ergosterol biosynthetic process IBA --
GO:0008150 biological_process ND --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with ERG28: view

No data available for Pathways by source and SIGNOR curated interactions for ERG28 Gene

Drugs & Compounds for ERG28 Gene

No Compound Related Data Available

Transcripts for ERG28 Gene

mRNA/cDNA for ERG28 Gene

(1) REFSEQ mRNAs :
(203) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERG28 Gene

No ASD Table

Relevant External Links for ERG28 Gene

GeneLoc Exon Structure for
ERG28
ECgene alternative splicing isoforms for
ERG28

Expression for ERG28 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERG28 Gene:

ERG28

mRNA Expression by UniProt/SwissProt for ERG28 Gene:

Q9UKR5-ERG28_HUMAN
Tissue specificity: Ubiquitous; strongly expressed in testis and some cancer cell lines.

Evidence on tissue expression from TISSUES for ERG28 Gene

  • Kidney(4.5)
  • Nervous system(4.4)
  • Adrenal gland(4.2)
  • Blood(4.1)
  • Liver(2.4)
  • Intestine(2)
  • Muscle(2)

No data available for mRNA expression in normal human tissues , 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERG28 Gene

Orthologs for ERG28 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERG28 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14orf1 34
  • 100 (a)
OneToOne
C14H14orf1 33
  • 99.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C14orf1 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8H14orf1 33
  • 92.62 (n)
C14orf1 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 0610007P14Rik 33 34
  • 92.14 (n)
Erg28 16
rat
(Rattus norvegicus)
Mammalia RGD1310769 33
  • 92.14 (n)
cow
(Bos Taurus)
Mammalia C10H14ORF1 34
  • 89 (a)
OneToOne
C10H14orf1 33
  • 88.1 (n)
oppossum
(Monodelphis domestica)
Mammalia C14orf1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14orf1 34
  • 79 (a)
OneToOne
C14ORF1 33
  • 74.84 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia c14orf1 33
  • 72.86 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565132 33
  • 72.66 (n)
C14orf1 34
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10474 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG28 34 36
  • 27 (a)
OneToOne
Species where no ortholog for ERG28 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ERG28 Gene

ENSEMBL:
Gene Tree for ERG28 (if available)
TreeFam:
Gene Tree for ERG28 (if available)

Paralogs for ERG28 Gene

No data available for Paralogs for ERG28 Gene

Variants for ERG28 Gene

Sequence variations from dbSNP and Humsavar for ERG28 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000044265 -- 75,661,249(-) C/T upstream_transcript_variant
rs1000093632 -- 75,654,376(-) G/A intron_variant
rs1000147661 -- 75,654,240(-) T/G intron_variant
rs1000552431 -- 75,655,212(-) A/G intron_variant
rs1000661088 -- 75,659,969(-) G/A intron_variant

Variation tolerance for ERG28 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERG28 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERG28

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERG28 Gene

Disorders for ERG28 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERG28 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards
Search ERG28 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ERG28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERG28 Gene

Publications for ERG28 Gene

  1. A novel human gene, encoding a potential membrane protein conserved from yeast to man, is strongly expressed in testis and cancer cell lines. (PMID: 10449901) Veitia RA … Fellous A (Cytogenetics and cell genetics 1999) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 58
  4. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PMID: 12958361) Schirmer EC … Gerace L (Science (New York, N.Y.) 2003) 2 3 58
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58

Products for ERG28 Gene

Sources for ERG28 Gene

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