Aliases for ERG28 Gene

Aliases for ERG28 Gene

  • Ergosterol Biosynthesis 28 Homolog 2 3 5
  • Probable Ergosterol Biosynthetic Protein 28 3 4
  • C14orf1 3 4
  • 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 and Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant.

Gene Wiki entry for ERG28 Gene

Additional gene information for ERG28 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH14J075659 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.1 94 3.8 ZBTB40 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G SP1 NCOR1 PHF8 TTLL5 ERG28 FLVCR2 GPATCH2L NEK9 FCF1 ENSG00000224721 YLPM1 MLH3 EIF2B2
GH14J075547 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +112.3 112294 2.2 RXRA RELA CBFB USF2 JUND USF1 ELF1 IRF4 IKZF1 ATF2 BATF TTLL5 FLVCR2 ENSG00000224721 JDP2 ERG28 piR-42536
GH14J075494 Enhancer 1.2 FANTOM5 Ensembl ENCODE 1.4 +164.7 164742 3.5 SP1 REST RELA BCL11A TCF12 NFIC CBFB SRF ARNT NBN BATF JDP2 ERG28 piR-32297-006 piR-39904-007
GH14J075551 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 1.9 +109.9 109894 0.6 CTCF CEBPG HLF ATF3 CEBPB CBFA2T3 BATF FLVCR2 ENSG00000224721 TTLL5 ERG28 piR-42536
GH14J075644 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.4 +13.5 13509 7.5 EP300 FOXK2 TCF12 POLR2G NCOR1 FOS REST KDM6A TCF7 FOXA1 FLVCR2 ENSG00000224721 TTLL5 BATF IFT43 ERG28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERG28 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERG28

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)
Size:
11,405 bases
Orientation:
Minus strand

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

Blocks:
  • Protein of unknown function UPF0143
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERG28 Gene

GenScript: Design optimal peptide antigens:
  • Probable ergosterol biosynthetic protein 28 (ERG28_HUMAN)
  • cDNA, FLJ92025 (Q6FII3_HUMAN)

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

Phenotypes From GWAS Catalog 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 21873635
genes like me logo Genes that share ontologies with ERG28: view
genes like me logo Genes that share phenotypes with ERG28: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
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 21873635
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

PathCards logo

SuperPathways for ERG28 Gene

No Data Available

Interacting Proteins for ERG28 Gene

;

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 21873635
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 :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ERG28 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31
  • 100 (a)
OneToOne
C14H14orf1 30
  • 99.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C14orf1 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8H14orf1 30
  • 92.62 (n)
C14orf1 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 0610007P14Rik 31 30
  • 92.14 (n)
OneToOne
Erg28 17
rat
(Rattus norvegicus)
Mammalia RGD1310769 30
  • 92.14 (n)
cow
(Bos Taurus)
Mammalia C10H14ORF1 31
  • 89 (a)
OneToOne
C10H14orf1 30
  • 88.1 (n)
oppossum
(Monodelphis domestica)
Mammalia C14orf1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14orf1 31
  • 79 (a)
OneToOne
C14ORF1 30
  • 74.84 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia c14orf1 30
  • 72.86 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565132 30
  • 72.66 (n)
C14orf1 31
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10474 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG28 33 31
  • 27 (a)
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

Additional dbSNP identifiers (rs#s) for ERG28 Gene

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 , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for ERG28 Gene

Disorders for ERG28 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards
Search ERG28 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERG28

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 54
  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 54
  3. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 54
  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 54
  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 54

Products for ERG28 Gene

Sources for ERG28 Gene